Incidental Mutation 'R2280:Mthfd1'
ID 243064
Institutional Source Beutler Lab
Gene Symbol Mthfd1
Ensembl Gene ENSMUSG00000021048
Gene Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
Synonyms E430024A07Rik, Mthfd, DCS
MMRRC Submission 040279-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2280 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 76302072-76366577 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76327266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 118 (I118T)
Ref Sequence ENSEMBL: ENSMUSP00000021443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021443] [ENSMUST00000220046]
AlphaFold Q922D8
Predicted Effect probably benign
Transcript: ENSMUST00000021443
AA Change: I118T

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021443
Gene: ENSMUSG00000021048
AA Change: I118T

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: ENSMUST00000218456
Predicted Effect probably benign
Transcript: ENSMUST00000220046
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,654,955 (GRCm39) N2698S probably damaging Het
Ankrd37 T C 8: 46,452,413 (GRCm39) T19A probably benign Het
Anks1b A C 10: 90,802,164 (GRCm39) K353N probably damaging Het
Ano3 T A 2: 110,513,104 (GRCm39) E630D probably benign Het
Ap3b1 A G 13: 94,664,724 (GRCm39) M888V unknown Het
Apoh T A 11: 108,300,006 (GRCm39) Y218* probably null Het
Arhgef19 G A 4: 140,973,827 (GRCm39) G105S probably benign Het
Brd7 A G 8: 89,069,385 (GRCm39) S437P probably benign Het
Cacna2d4 A T 6: 119,327,002 (GRCm39) Q1089L possibly damaging Het
Ccdc168 T A 1: 44,095,620 (GRCm39) H1826L possibly damaging Het
Ccser1 A T 6: 61,547,799 (GRCm39) M49L probably damaging Het
Cep170 A T 1: 176,602,071 (GRCm39) V345E probably benign Het
Chaf1b T G 16: 93,688,459 (GRCm39) Y185D probably damaging Het
Clasp1 C T 1: 118,492,913 (GRCm39) P1153S probably benign Het
Clvs2 A T 10: 33,404,496 (GRCm39) I240N probably damaging Het
Cox8c A T 12: 102,865,713 (GRCm39) H30L possibly damaging Het
Crtac1 G A 19: 42,272,006 (GRCm39) L646F unknown Het
Cyp46a1 T C 12: 108,321,730 (GRCm39) S319P probably damaging Het
Dcdc5 G A 2: 106,202,867 (GRCm39) noncoding transcript Het
Ddx4 T C 13: 112,757,190 (GRCm39) I377V probably benign Het
Dis3l T A 9: 64,225,076 (GRCm39) N407I possibly damaging Het
Dysf A C 6: 84,041,476 (GRCm39) T161P probably damaging Het
Ecsit C T 9: 21,987,836 (GRCm39) V68I possibly damaging Het
Ei24 A G 9: 36,693,635 (GRCm39) probably null Het
Fbxl19 A T 7: 127,347,540 (GRCm39) D32V possibly damaging Het
Fgd5 G A 6: 91,965,926 (GRCm39) V562M possibly damaging Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Frem2 A G 3: 53,479,844 (GRCm39) C1950R probably damaging Het
Fryl T C 5: 73,198,707 (GRCm39) D2640G possibly damaging Het
Ganab T C 19: 8,886,832 (GRCm39) V306A probably damaging Het
Gbx2 A T 1: 89,858,359 (GRCm39) V40D probably damaging Het
Gcc2 C A 10: 58,105,502 (GRCm39) T210K probably benign Het
Gcn1 T A 5: 115,750,789 (GRCm39) M1991K probably damaging Het
Gpr18 T A 14: 122,150,017 (GRCm39) T3S probably benign Het
Herc2 A C 7: 55,787,019 (GRCm39) K1621N possibly damaging Het
Hspg2 A G 4: 137,249,354 (GRCm39) E1300G probably damaging Het
Krtap19-5 C T 16: 88,693,231 (GRCm39) C27Y unknown Het
Lrrc3b A T 14: 15,358,076 (GRCm38) L177M probably damaging Het
Ncoa4-ps A G 12: 119,226,573 (GRCm39) noncoding transcript Het
Nphp4 A G 4: 152,641,500 (GRCm39) K1094E possibly damaging Het
Npy1r C T 8: 67,156,711 (GRCm39) L44F possibly damaging Het
Or10aa1 C A 1: 173,870,087 (GRCm39) S190R probably benign Het
Pcx C A 19: 4,654,571 (GRCm39) R328S probably damaging Het
Pde6a T C 18: 61,395,505 (GRCm39) Y583H probably damaging Het
Pip5k1b T A 19: 24,356,311 (GRCm39) Y209F probably damaging Het
Plch2 A T 4: 155,068,766 (GRCm39) S1182T probably damaging Het
Pum1 A T 4: 130,493,322 (GRCm39) I696F probably damaging Het
Pxdn T C 12: 30,034,905 (GRCm39) V254A probably damaging Het
Rcsd1 C T 1: 165,486,998 (GRCm39) A72T probably benign Het
Rsph4a A T 10: 33,787,595 (GRCm39) I584L probably benign Het
Scamp5 A G 9: 57,352,722 (GRCm39) V149A probably benign Het
Sike1 A G 3: 102,904,694 (GRCm39) H134R possibly damaging Het
Slc12a9 A G 5: 137,330,474 (GRCm39) L77P probably damaging Het
Spmap2l T C 5: 77,207,214 (GRCm39) I324T probably damaging Het
Taar7f G A 10: 23,925,417 (GRCm39) A4T probably benign Het
Tmem216 T A 19: 10,529,237 (GRCm39) T104S probably damaging Het
Tpsg1 C T 17: 25,593,016 (GRCm39) R94C probably damaging Het
Utp20 A T 10: 88,661,365 (GRCm39) probably null Het
Wdr35 A G 12: 9,028,628 (GRCm39) Q82R probably benign Het
Zfp12 A G 5: 143,231,248 (GRCm39) Y525C probably damaging Het
Zfp532 T C 18: 65,757,783 (GRCm39) V572A probably damaging Het
Zfyve26 T A 12: 79,321,814 (GRCm39) Q935L probably damaging Het
Other mutations in Mthfd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Mthfd1 APN 12 76,347,213 (GRCm39) missense possibly damaging 0.79
IGL01996:Mthfd1 APN 12 76,350,679 (GRCm39) missense probably damaging 1.00
IGL02399:Mthfd1 APN 12 76,364,406 (GRCm39) missense probably damaging 1.00
IGL02529:Mthfd1 APN 12 76,350,483 (GRCm39) missense probably benign 0.02
3-1:Mthfd1 UTSW 12 76,361,174 (GRCm39) critical splice acceptor site probably null
R0062:Mthfd1 UTSW 12 76,344,363 (GRCm39) splice site probably benign
R0062:Mthfd1 UTSW 12 76,344,363 (GRCm39) splice site probably benign
R0732:Mthfd1 UTSW 12 76,340,948 (GRCm39) missense probably damaging 1.00
R1572:Mthfd1 UTSW 12 76,317,193 (GRCm39) nonsense probably null
R1918:Mthfd1 UTSW 12 76,361,750 (GRCm39) missense probably damaging 1.00
R2008:Mthfd1 UTSW 12 76,344,293 (GRCm39) missense probably damaging 1.00
R2857:Mthfd1 UTSW 12 76,335,699 (GRCm39) missense probably damaging 0.99
R2859:Mthfd1 UTSW 12 76,335,699 (GRCm39) missense probably damaging 0.99
R2997:Mthfd1 UTSW 12 76,361,810 (GRCm39) missense probably benign 0.01
R3034:Mthfd1 UTSW 12 76,336,244 (GRCm39) missense probably benign 0.04
R3153:Mthfd1 UTSW 12 76,358,737 (GRCm39) missense probably benign
R3412:Mthfd1 UTSW 12 76,350,523 (GRCm39) splice site probably null
R4135:Mthfd1 UTSW 12 76,329,648 (GRCm39) splice site probably null
R4245:Mthfd1 UTSW 12 76,348,047 (GRCm39) missense probably damaging 0.99
R4498:Mthfd1 UTSW 12 76,361,764 (GRCm39) missense probably damaging 1.00
R4573:Mthfd1 UTSW 12 76,340,912 (GRCm39) critical splice acceptor site probably null
R5022:Mthfd1 UTSW 12 76,348,102 (GRCm39) missense probably damaging 1.00
R5022:Mthfd1 UTSW 12 76,341,148 (GRCm39) missense probably damaging 1.00
R5037:Mthfd1 UTSW 12 76,340,914 (GRCm39) missense probably damaging 1.00
R5455:Mthfd1 UTSW 12 76,348,062 (GRCm39) missense probably benign 0.20
R5879:Mthfd1 UTSW 12 76,340,992 (GRCm39) missense probably benign 0.00
R5902:Mthfd1 UTSW 12 76,337,826 (GRCm39) missense probably benign 0.01
R6119:Mthfd1 UTSW 12 76,350,447 (GRCm39) missense probably damaging 1.00
R6199:Mthfd1 UTSW 12 76,350,454 (GRCm39) missense probably damaging 1.00
R6199:Mthfd1 UTSW 12 76,335,685 (GRCm39) missense probably damaging 1.00
R6931:Mthfd1 UTSW 12 76,350,472 (GRCm39) missense probably benign
R7405:Mthfd1 UTSW 12 76,358,648 (GRCm39) missense probably damaging 0.98
R7658:Mthfd1 UTSW 12 76,317,209 (GRCm39) missense probably damaging 1.00
R8053:Mthfd1 UTSW 12 76,327,282 (GRCm39) missense probably damaging 1.00
R8493:Mthfd1 UTSW 12 76,340,929 (GRCm39) missense probably damaging 1.00
R8914:Mthfd1 UTSW 12 76,329,710 (GRCm39) missense probably benign 0.00
R9002:Mthfd1 UTSW 12 76,350,754 (GRCm39) missense probably benign 0.00
R9003:Mthfd1 UTSW 12 76,350,754 (GRCm39) missense probably benign 0.00
R9004:Mthfd1 UTSW 12 76,350,754 (GRCm39) missense probably benign 0.00
R9019:Mthfd1 UTSW 12 76,350,754 (GRCm39) missense probably benign 0.00
R9103:Mthfd1 UTSW 12 76,350,517 (GRCm39) missense probably damaging 1.00
R9136:Mthfd1 UTSW 12 76,350,649 (GRCm39) missense probably damaging 0.97
X0012:Mthfd1 UTSW 12 76,361,182 (GRCm39) missense possibly damaging 0.75
Z1176:Mthfd1 UTSW 12 76,350,741 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GGGGCTGAGATACACTTTGCAG -3'
(R):5'- TTAGATCACCTCTGGCGAGC -3'

Sequencing Primer
(F):5'- AATATTTCTTTACAGCCTTTCCTTCC -3'
(R):5'- GCTTCCCAGCACTGACG -3'
Posted On 2014-10-16