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Mthfr
Gene Detail
Symbol

Name
ID
Mthfr
5,10-methylenetetrahydrofolate reductase
MGI:106639
Feature Type
protein coding gene
Genetic Map
Chromosome 4
78.67 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr4:148039077-148059551 bp, + strand
From VEGA annotation of GRCm38

  20475 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4349  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MTHFR
Protein SuperFamily: methylenetetrahydrofolate reductase
Gene Tree: Mthfr

Human
homologs
MTHFR, methylenetetrahydrofolate reductase (NAD(P)H)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4524
neXtProt AC: NX_P42898

Human Chr (Location): 1p36.3; chr1:11785730-11806103 (-)  GRCh38.p2

Disease Associations: (4) Diseases Associated with Human MTHFR

Mutations,
alleles, and
phenotypes
All mutations/alleles(33) : Gene trapped(25) Targeted(8)
Genomic Mutations involving Mthfr (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for disruptions in this gene have elevated plasma levels of homocysteine. They also display delayed growth and development and a reduced survival rate.
 
Human Diseases Modeled in Mice Using Mthfr (2)    Mutations Annotated to Human Diseases (1)   
Interactions
Mthfr interacts with 299 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (23 annotations)
Process heterochromatin maintenance, homocysteine metabolic process, ...
Component cytosol, neuron projection
Function catalytic activity, flavin adenine dinucleotide binding, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (146)    Tissues (136)    Images (21)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 19
RNA in situ 123
RT-PCR 4
cDNA source data(84)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mthfr ; ZFIN mthfr    NEW 
Molecular
reagents
All nucleic(86) Genomic(1) cDNA(84) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000010193 (Evidence)
Ensembl Gene Model ENSMUSG00000029009 (Evidence)
Entrez Gene 17769 (Evidence)
UniGene 89959
DFCI TC1602875, TC1583513, TC1615932, TC1650538, TC1648035, TC1645521
DoTS DT.101329533, DT.101256975, DT.103544678, DT.97371247, DT.97351732, DT.489094
NIA Mouse Gene Index U005082, U047748
EC 1.5.1.20
Consensus CDS Project CCDS18929.1, CCDS51376.1
International Mouse Phenotyping Consortium Status Mthfr
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010193 VEGA Gene Model | MGI Sequence Detail 20475 C57BL/6J ±  kb
transcript OTTMUST00000023686 VEGA | MGI Sequence Detail 6072 Not Applicable 
polypeptide OTTMUSP00000010828 VEGA | MGI Sequence Detail 695 Not Applicable 

For the selected sequences
All sequences(122) RefSeq(35) UniProt(13)
Polymorphisms
RFLP(1) : SNPs within 2kb(200 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004621 Eukaryotic-type methylenetetrahydrofolate reductase
InterPro IPR003171 Methylenetetrahydrofolate reductase
Protein Ontology PR:000010725 methylenetetrahydrofolate reductase
References
(Earliest) J:36986 Marks PW, et al., Genomic organization and chromosomal location of murine Cdc42. Genomics. 1996 Nov 15;38(1):13-8
(Latest) J:205587 Wlodarczyk BJ, et al., Mthfr gene ablation enhances susceptibility to arsenic prenatal toxicity. Toxicol Appl Pharmacol. 2014 Feb 15;275(1):22-7
All references(76)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-35096, MGI:2140237

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory