Incidental Mutation 'IGL02529:Mthfd1'
ID297219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mthfd1
Ensembl Gene ENSMUSG00000021048
Gene Namemethylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
SynonymsMthfd, DCS, E430024A07Rik
Accession Numbers

Genbank: NM_138745; MGI: 1342005

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02529
Quality Score
Status
Chromosome12
Chromosomal Location76255298-76319803 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76303709 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 474 (I474V)
Ref Sequence ENSEMBL: ENSMUSP00000151500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021443] [ENSMUST00000220046] [ENSMUST00000220321]
Predicted Effect probably benign
Transcript: ENSMUST00000021443
AA Change: I654V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000021443
Gene: ENSMUSG00000021048
AA Change: I654V

DomainStartEndE-ValueType
Pfam:THF_DHG_CYH 6 125 1.7e-36 PFAM
Pfam:THF_DHG_CYH_C 128 295 1.1e-67 PFAM
Pfam:FTHFS 317 935 4.1e-259 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218513
Predicted Effect probably benign
Transcript: ENSMUST00000220046
AA Change: I474V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000220321
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a trifunctional cytoplasmic enzyme. The encoded protein functions as a methylenetetrahydrofolate dehydrogenase, a methenyltetrahydrofolate cyclohydrolase, and a formyltetrahydrofolate synthase. The encoded enzyme functions in de novo synthesis of purines and thymidylate and in regeneration of methionine from homocysteine. [provided by RefSeq, Oct 2009]
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. [provided by MGI curators]
Allele List at MGI

All alleles(57) : Targeted, other(2) Gene trapped(54) Radiation induced(1)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,661,233 H925L probably benign Het
Agpat5 T A 8: 18,881,754 Y297N possibly damaging Het
Apobec3 C T 15: 79,897,687 probably benign Het
Atpaf1 C A 4: 115,791,269 A161E probably damaging Het
Bnc1 A T 7: 81,977,368 D91E probably damaging Het
Capg G A 6: 72,555,846 V98I probably benign Het
Ccdc7b C T 8: 129,178,225 L115F possibly damaging Het
Ces2a T A 8: 104,737,219 probably benign Het
Cldn6 T G 17: 23,681,317 V85G probably damaging Het
Clec2e T C 6: 129,098,496 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dhx38 T C 8: 109,559,013 E396G probably benign Het
Dock8 A T 19: 25,100,926 K532* probably null Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Gmip G A 8: 69,816,789 G537E probably damaging Het
Hacd1 T C 2: 14,045,202 H64R probably damaging Het
Hdac3 G T 18: 37,944,132 Q230K probably benign Het
Htt C T 5: 34,819,043 probably benign Het
Il18r1 A G 1: 40,487,059 D255G possibly damaging Het
Krt82 T A 15: 101,550,396 R70* probably null Het
Krt9 G T 11: 100,189,966 H353Q probably damaging Het
Kyat3 T C 3: 142,720,474 I57T probably benign Het
L1td1 A G 4: 98,737,421 K618E probably benign Het
Limch1 C A 5: 67,002,613 N617K possibly damaging Het
Lsm8 T C 6: 18,851,652 F34S probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mmrn2 C A 14: 34,398,613 A480E possibly damaging Het
Mycl A G 4: 122,996,977 K152R probably damaging Het
Numa1 A G 7: 101,999,953 probably null Het
Olfr474 G T 7: 107,955,216 V192F possibly damaging Het
Otog A C 7: 46,259,957 D617A probably damaging Het
Ppef2 A G 5: 92,244,737 I267T probably damaging Het
Ptprq A G 10: 107,635,365 Y1392H probably benign Het
Rasgrp3 G T 17: 75,525,102 K639N possibly damaging Het
Rgs19 C T 2: 181,689,150 R203H probably benign Het
Scnn1g C A 7: 121,742,446 probably benign Het
Tmem181b-ps T C 17: 6,466,921 noncoding transcript Het
Vmn2r118 A G 17: 55,610,870 V214A possibly damaging Het
Zfp811 T C 17: 32,797,815 Y417C probably damaging Het
Other mutations in Mthfd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Mthfd1 APN 12 76300439 missense possibly damaging 0.79
IGL01996:Mthfd1 APN 12 76303905 missense probably damaging 1.00
IGL02399:Mthfd1 APN 12 76317632 missense probably damaging 1.00
3-1:Mthfd1 UTSW 12 76314400 critical splice acceptor site probably null
R0062:Mthfd1 UTSW 12 76297589 splice site probably benign
R0062:Mthfd1 UTSW 12 76297589 splice site probably benign
R0732:Mthfd1 UTSW 12 76294174 missense probably damaging 1.00
R1572:Mthfd1 UTSW 12 76270419 nonsense probably null
R1918:Mthfd1 UTSW 12 76314976 missense probably damaging 1.00
R2008:Mthfd1 UTSW 12 76297519 missense probably damaging 1.00
R2280:Mthfd1 UTSW 12 76280492 missense probably benign 0.37
R2857:Mthfd1 UTSW 12 76288925 missense probably damaging 0.99
R2859:Mthfd1 UTSW 12 76288925 missense probably damaging 0.99
R2997:Mthfd1 UTSW 12 76315036 missense probably benign 0.01
R3034:Mthfd1 UTSW 12 76289470 missense probably benign 0.04
R3153:Mthfd1 UTSW 12 76311963 missense probably benign
R3412:Mthfd1 UTSW 12 76303749 splice site probably null
R4135:Mthfd1 UTSW 12 76282874 splice site probably null
R4245:Mthfd1 UTSW 12 76301273 missense probably damaging 0.99
R4498:Mthfd1 UTSW 12 76314990 missense probably damaging 1.00
R4573:Mthfd1 UTSW 12 76294138 critical splice acceptor site probably null
R5022:Mthfd1 UTSW 12 76294374 missense probably damaging 1.00
R5022:Mthfd1 UTSW 12 76301328 missense probably damaging 1.00
R5037:Mthfd1 UTSW 12 76294140 missense probably damaging 1.00
R5455:Mthfd1 UTSW 12 76301288 missense probably benign 0.20
R5879:Mthfd1 UTSW 12 76294218 missense probably benign 0.00
R5902:Mthfd1 UTSW 12 76291052 missense probably benign 0.01
R6119:Mthfd1 UTSW 12 76303673 missense probably damaging 1.00
R6199:Mthfd1 UTSW 12 76288911 missense probably damaging 1.00
R6199:Mthfd1 UTSW 12 76303680 missense probably damaging 1.00
R6931:Mthfd1 UTSW 12 76303698 missense probably benign
X0012:Mthfd1 UTSW 12 76314408 missense possibly damaging 0.75
Posted On2015-04-16