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Mthfd1l Gene Detail
Summary
  • Symbol
    Mthfd1l
  • Name
    methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
  • Synonyms
    2410004L15Rik, Fthfsdc1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924836
    NCBI Gene: 270685
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:3923118-4117081 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 2.06 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6378 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924836
 protein coding gene Chr10:3918282-4117081 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016975
 protein coding gene Chr10:927543-1137150 (+)
A/J MGP_AJ_G0016953
 protein coding gene Chr10:890141-1088243 (+)
AKR/J MGP_AKRJ_G0016918
 protein coding gene Chr10:863988-1065177 (+)
BALB/cJ MGP_BALBcJ_G0016911
 protein coding gene Chr10:852175-1050347 (+)
C3H/HeJ MGP_C3HHeJ_G0016736
 protein coding gene Chr10:938407-1152672 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017374
 protein coding gene Chr10:922217-1147440 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015080
 protein coding gene Chr10:728037-919674 (+)
CAST/EiJ MGP_CASTEiJ_G0016318
 protein coding gene Chr10:966131-1186169 (+)
CBA/J MGP_CBAJ_G0016708
 protein coding gene Chr10:931492-1161949 (+)
DBA/2J MGP_DBA2J_G0016816
 protein coding gene Chr10:890597-1087662 (+)
FVB/NJ MGP_FVBNJ_G0016811
 protein coding gene Chr10:846363-1045853 (+)
LP/J MGP_LPJ_G0016891
 protein coding gene Chr10:935181-1146116 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016842
 protein coding gene Chr10:917953-1130124 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017411
 protein coding gene Chr10:877171-1081209 (+)
PWK/PhJ MGP_PWKPhJ_G0016104
 protein coding gene Chr10:883760-1079864 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015885
 protein coding gene Chr10:1069682-1279746 (+)
WSB/EiJ MGP_WSBEiJ_G0016379
 protein coding gene Chr10:911272-1128967 (+)



Homology
more
  • Human Ortholog
    MTHFD1L, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MTHFD1L, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like
  • Synonyms
    dJ292B18.2, FTHFSDC1, MTC1THFS
  • Links
    NCBI Gene ID: 25902
    neXtProt AC: NX_Q6UB35
    UniProt: Q6UB35

  • Chr Location
    6q25.1; chr6:150865679-151101887 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mthfd1l mouse models; 1 with human MTHFD1L associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 1 allele in 1 genetic background
    17 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.
Homozygous deletion of this gene causes embryonic lethality, delayed embryonic growth, craniofacial anomalies, and neural tube defects including craniorachischisis, exencephaly and/or a wavy neural tube. Maternal formate supplementation reduces the incidence of NTDs and improves embryonic growth.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    9
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1099
  • Tissues
    199
  • cDNA Data
    85
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040675 Ensembl Gene Model | MGI Sequence Detail 193964 C57BL/6J ±  kb
    transcript ENSMUST00000043735 Ensembl | MGI Sequence Detail 3535 Not Applicable  
    polypeptide ENSMUSP00000036178 Ensembl | MGI Sequence Detail 977 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000010723 monofunctional C1-tetrahydrofolate synthase, mitochondrial
      (term hierarchy)
    • PDB
      2EO2
    • EC
      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
      IPR020631 Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
    Molecular
    Reagents
    less
    • All nucleic 89
      cDNA 85
      Primer pair 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2143659
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 9
      Phenotypes 17
    • 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:349164 Ambekar YS, et al., Optical coherence tomography-guided Brillouin microscopy highlights regional tissue stiffness differences during anterior neural tube closure in the Mthfd1l murine mutant. Development. 2024 May 15;151(10):dev202475
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory