Mthfd1 MGI Mouse Gene Detail - MGI:1342005 - methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase

Symbol

Mthfd1
Name

methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
Synonyms

DCS, E430024A07Rik, Mthfd

Feature Type

protein coding gene
IDs

MGI:1342005
NCBI Gene: 108156
Alliance

gene page
Transcription Start Sites

13 TSS

Sequence Map

Chr12:76302072-76366577 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 33.52 cM, cytoband D2
Mapping Data

2 experiments

SNPs within 2kb

573 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1342005	protein coding gene	Chr12:76301180-76366594 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019854	protein coding gene	Chr12:76349143-76418724 (+)
A/J	MGP_AJ_G0019812	protein coding gene	Chr12:73457820-73523283 (+)
AKR/J	MGP_AKRJ_G0019787	protein coding gene	Chr12:75679697-75745742 (+)
BALB/cJ	MGP_BALBcJ_G0019791	protein coding gene	Chr12:73928315-73994019 (+)
C3H/HeJ	MGP_C3HHeJ_G0019597	protein coding gene	Chr12:76143500-76210522 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020243	protein coding gene	Chr12:78697870-78768187 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017861	protein coding gene	Chr12:70794088-70858568 (+)
CAST/EiJ	MGP_CASTEiJ_G0019149	protein coding gene	Chr12:70956300-71026717 (+)
CBA/J	MGP_CBAJ_G0019567	protein coding gene	Chr12:81738194-81811715 (+)
DBA/2J	MGP_DBA2J_G0019683	protein coding gene	Chr12:73309005-73373716 (+)
FVB/NJ	MGP_FVBNJ_G0019670	protein coding gene	Chr12:72153545-72218465 (+)
LP/J	MGP_LPJ_G0019755	protein coding gene	Chr12:76327482-76400253 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019709	protein coding gene	Chr12:84776108-84843334 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020279	protein coding gene	Chr12:75156065-75222941 (+)
PWK/PhJ	MGP_PWKPhJ_G0018914	protein coding gene	Chr12:67679800-67745728 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018708	protein coding gene	Chr12:69664635-69735945 (+)
WSB/EiJ	MGP_WSBEiJ_G0019200	protein coding gene	Chr12:75769550-75837250 (+)

Human Ortholog

MTHFD1, methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

Vertebrate Orthologs

5

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MTHFD1, methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
Synonyms

CIMAH, MTHFC, MTHFD
Links

HGNC:7432

NCBI Gene ID: 4522

neXtProt AC: NX_P11586

UniProt: P11586
Chr Location

14q23.3; chr14:64388031-64463457 (+) GRCh38

MGI Vertebrate Homology

Mthfd1 stringent orthology
1 human;1 mouse;2 rat;2 zebrafish
HCOP

vertebrate homology predictions: MTHFD1
Gene Tree

Mthfd1

Diseases

8 with human MTHFD1 associations

				Human Disease	Mouse Models
				abdominal aortic aneurysm IDs abdominal aortic aneurysm DOID:7693 EFO:0004214 MESH:D017544 NCI:C27000 OMIM:100070 OMIM:609782 OMIM:611891 OMIM:614375 UMLS_CUI:C0162871
				cleft lip IDs cleft lip DOID:9296 DOID:9333 EFO:0003959 ICD10CM:Q36 ICD9CM_2006:749.11 ICD9CM:749.1 ICD9CM:749.10 ICD9CM:749.11 MESH:D002971 NCI:C87175 UMLS_CUI:C0008924 UMLS_CUI:C0158651
				cleft palate IDs cleft palate DOID:674 ICD10CM:Q35 ICD9CM:749.0 ICD9CM:749.00 MESH:D002972 NCI:C87069 ORDO:99772 UMLS_CUI:C0008925
				developmental cardiac valvular defect IDs developmental cardiac valvular defect DOID:0080633 OMIM:212093
				Down syndrome IDs Down syndrome DOID:14250 ICD10CM:Q90 ICD9CM:758.0 MESH:D004314 NCI:C2993 OMIM:190685 ORDO:870 UMLS_CUI:C0013080
				neural tube defect IDs neural tube defect DOID:0080074 OMIM:301410 OMIM:601634
				spina bifida IDs spina bifida DOID:0080016 ICD10CM:Q05 MESH:D016135 NCI:C101214 UMLS_CUI:C0080178
				tetralogy of Fallot IDs tetralogy of Fallot DOID:6419 ICD10CM:Q21.3 ICD9CM:745.2 MESH:D013771 NCI:C84505 OMIM:187500 UMLS_CUI:C0039685

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

26 phenotypes from 3 alleles in 5 genetic backgrounds
24 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

62
Chemically induced (other)

1
Gene trapped

55
Targeted

6
Genomic Mutations

1 involving Mthfd1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

79 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice heterozygous for a gene trap allele exhibit altered amino acid levels and nucleotide metabolism related to dietary folate and choline concentrations.

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All GO Annotations

36
GO References

11

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1139
Tissues

184
cDNA Data

213
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mthfd1

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All Sequences

77
RefSeq

4
UniProt

7
CCDS

CCDS25990.1

Ensembl

ENSMUSG00000021048 (Evidence)
NCBI Gene

108156

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021048	Ensembl Gene Model \| MGI Sequence Detail	64506	C57BL/6J	± kb
transcript	ENSMUST00000021443	Ensembl \| MGI Sequence Detail	3241	Not Applicable
polypeptide	ENSMUSP00000021443	Ensembl \| MGI Sequence Detail	935	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000010722 C-1-tetrahydrofolate synthase, cytoplasmic

(term hierarchy)
EC

1.5.1.5, 3.5.4.9, 6.3.4.3
InterPro Domains

IPR046346 Aminoacid dehydrogenase-like, N-terminal domain superfamily

IPR000559 Formate-tetrahydrofolate ligase, FTHFS

IPR020628 Formate-tetrahydrofolate ligase, FTHFS, conserved site

IPR036291 NAD(P)-binding domain superfamily

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR000672 Tetrahydrofolate dehydrogenase/cyclohydrolase

IPR020630 Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

IPR020867 Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site

IPR020631 Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain

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All nucleic 218

cDNA 214

Primer pair 4

Microarray probesets 6

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MGD-MRK-12591, MGI:2444093, MGI:97181

Summaries

All 62

Developmental Gene Expression 9

Gene Ontology 11

Phenotypes 24
Earliest

J:2333 Peri KG, et al., Transcriptional regulation of murine NADP(+)-dependent methylenetetrahydrofolate dehydrogenase-cyclohydrolase-synthetase. FEBS Lett. 1991 Dec 2;294(1-2):113-5
Latest

J:312368 Imbard A, et al., Liver and brain differential expression of one-carbon metabolism genes during ontogenesis. Sci Rep. 2021 Oct 26;11(1):21132

TSS for Mthfd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr113934	Chr12:76301983-76302013 (+)	-74 bp
Tssr113935	Chr12:76302018-76302031 (+)	-47 bp
Tssr113936	Chr12:76302064-76302081 (+)	1 bp
Tssr113937	Chr12:76302106-76302111 (+)	37 bp
Tssr113938	Chr12:76302122-76302143 (+)	61 bp
Tssr113939	Chr12:76302145-76302210 (+)	106 bp
Tssr113940	Chr12:76302227-76302246 (+)	165 bp
Tssr113941	Chr12:76302257-76302268 (+)	191 bp
Tssr113942	Chr12:76340911-76340957 (+)	38,862 bp
Tssr113943	Chr12:76353836-76353848 (+)	51,770 bp
Tssr113944	Chr12:76353873-76353885 (+)	51,807 bp
Tssr113945	Chr12:76353917-76353931 (+)	51,852 bp
Tssr113946	Chr12:76365831-76365835 (+)	63,761 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/09/2024 MGI 6.23