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Mthfs Gene Detail
Summary
  • Symbol
    Mthfs
  • Name
    5, 10-methenyltetrahydrofolate synthetase
  • Synonyms
    1110034I12Rik, 2310020H23Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1340032
    NCBI Gene: 107885
Location & Maps
more
  • Sequence Map
    Chr9:89210676-89377713 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      167038 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 47.24 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    MTERF1, mitochondrial transcription termination factor 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    MTERF1, mitochondrial transcription termination factor 1
    Orthology source: HGNC
  • Synonyms
    MTERF
  • Links
    NCBI Gene ID: 7978
    neXtProt AC: NX_Q99551

  • Chr Location
    7q21.2; chr7:91872876-91880720 (-)  GRCh38.p2

  • Human Ortholog
    MTHFS, 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HsT19268
  • Links
    NCBI Gene ID: 10588
    neXtProt AC: NX_P49914

  • Chr Location
    15q25.1; chr15:79843547-79897285 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    7 phenotype references
Phenotype Overview

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
    3
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    1
  • Genomic Mutations
    1 involving Mthfs
  • Incidental Mutations
Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice display decreased de novo purine synthesis and reduced plasma folate levels.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031930 VEGA Gene Model | MGI Sequence Detail 167038 C57BL/6J ±  kb
transcript OTTMUST00000079185 VEGA | MGI Sequence Detail 816 Not Applicable  
polypeptide OTTMUSP00000042201 VEGA | MGI Sequence Detail 203 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    820 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • EC
  • InterPro Domains
    IPR002698 5-formyltetrahydrofolate cyclo-ligase
    IPR024185 5-formyltetrahydrofolate cyclo-ligase-like domain
Molecular
Reagents
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  • All nucleic 8
    cDNA 7
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGI:1915997, MGI:1922835, MGI:2142982
References
more
  • Summaries
    All 39
    Developmental Gene Expression 4
    Gene Ontology 4
    Phenotypes 7
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:193822 Lumayag S, et al., Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E507-16

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
09/27/2016
MGI 6.05
The Jackson Laboratory