Incidental Mutation 'R0344:Mthfr'
ID 26421
Institutional Source Beutler Lab
Gene Symbol Mthfr
Ensembl Gene ENSMUSG00000029009
Gene Name methylenetetrahydrofolate reductase
Synonyms
MMRRC Submission 038551-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R0344 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 148123534-148144008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 148139885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tryptophan at position 618 (S618W)
Ref Sequence ENSEMBL: ENSMUSP00000117095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069604] [ENSMUST00000097788] [ENSMUST00000152498]
AlphaFold Q9WU20
Predicted Effect probably damaging
Transcript: ENSMUST00000069604
AA Change: S643W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069774
Gene: ENSMUSG00000029009
AA Change: S643W

DomainStartEndE-ValueType
low complexity region 48 73 N/A INTRINSIC
Pfam:MTHFR 88 377 2.3e-121 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097788
AA Change: S602W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095395
Gene: ENSMUSG00000029009
AA Change: S602W

DomainStartEndE-ValueType
low complexity region 7 32 N/A INTRINSIC
Pfam:MTHFR 47 336 5.9e-121 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152498
AA Change: S618W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117095
Gene: ENSMUSG00000029009
AA Change: S618W

DomainStartEndE-ValueType
low complexity region 23 48 N/A INTRINSIC
Pfam:MTHFR 63 352 2.4e-121 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000156113
AA Change: S99W
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.3%
  • 20x: 93.6%
Validation Efficiency 99% (81/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
PHENOTYPE: 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. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553J12Rik T A 16: 88,617,189 (GRCm39) C29* probably null Het
Abca4 G A 3: 121,877,613 (GRCm39) C324Y probably damaging Het
Ablim2 T G 5: 35,994,277 (GRCm39) probably benign Het
Abr A T 11: 76,369,870 (GRCm39) V115E probably damaging Het
Adgrl2 C T 3: 148,571,231 (GRCm39) probably null Het
Aff3 A T 1: 38,243,013 (GRCm39) S936T probably benign Het
Agap3 T C 5: 24,656,200 (GRCm39) probably benign Het
Ahrr T A 13: 74,362,705 (GRCm39) S393C probably damaging Het
Amfr T C 8: 94,713,998 (GRCm39) probably null Het
Ankrd26 C A 6: 118,484,598 (GRCm39) probably null Het
Asxl3 G A 18: 22,650,668 (GRCm39) V886I probably benign Het
Atp5f1a C A 18: 77,867,895 (GRCm39) N356K probably damaging Het
AU021092 A T 16: 5,040,031 (GRCm39) M31K possibly damaging Het
Bicral A G 17: 47,124,978 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
C3ar1 T C 6: 122,827,731 (GRCm39) D162G probably benign Het
Camkk2 C T 5: 122,901,940 (GRCm39) C123Y probably benign Het
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Catsperg1 A T 7: 28,894,965 (GRCm39) V544E probably damaging Het
Cdc27 G A 11: 104,417,817 (GRCm39) probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dmac2l T C 12: 69,787,663 (GRCm39) probably benign Het
Fbxl17 G A 17: 63,692,062 (GRCm39) probably benign Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gdap2 G A 3: 100,085,572 (GRCm39) G165S probably damaging Het
Gns A G 10: 121,219,328 (GRCm39) K352E probably benign Het
Gtf2ird2 C T 5: 134,220,088 (GRCm39) T22M probably damaging Het
Herc3 A G 6: 58,845,613 (GRCm39) probably benign Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Inpp1 A T 1: 52,838,513 (GRCm39) F45L probably damaging Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itgae A G 11: 73,008,973 (GRCm39) K485E probably benign Het
Jak2 G A 19: 29,261,029 (GRCm39) V342I probably damaging Het
Kptn C A 7: 15,859,666 (GRCm39) Q297K probably damaging Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Nup133 A G 8: 124,644,185 (GRCm39) V727A possibly damaging Het
Oas2 T G 5: 120,881,152 (GRCm39) E313A probably damaging Het
Or10d4c G A 9: 39,558,646 (GRCm39) C208Y probably damaging Het
Or52b2 C A 7: 104,986,814 (GRCm39) M36I probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5m8 T A 2: 85,822,726 (GRCm39) C188* probably null Het
Or5p63 A T 7: 107,810,949 (GRCm39) Y262* probably null Het
Park7 A G 4: 150,992,806 (GRCm39) V20A possibly damaging Het
Pgap4 T C 4: 49,586,566 (GRCm39) T201A probably benign Het
Phldb1 C A 9: 44,612,964 (GRCm39) V919L probably benign Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Plekhg3 G T 12: 76,613,040 (GRCm39) E449* probably null Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Pstpip1 T C 9: 56,033,929 (GRCm39) V301A probably benign Het
Ptdss1 G A 13: 67,081,636 (GRCm39) R22H probably damaging Het
Ptprq A G 10: 107,541,443 (GRCm39) V361A probably benign Het
Ralgapa2 A T 2: 146,188,714 (GRCm39) V1309E possibly damaging Het
Rere T C 4: 150,695,438 (GRCm39) probably benign Het
Sbk3 T A 7: 4,970,404 (GRCm39) T322S possibly damaging Het
Scn9a T A 2: 66,335,354 (GRCm39) I1203L probably damaging Het
Setdb1 A T 3: 95,233,442 (GRCm39) probably benign Het
Sik3 C A 9: 46,120,109 (GRCm39) Q683K probably damaging Het
Slc24a5 A G 2: 124,927,621 (GRCm39) I307V probably benign Het
Smg6 A G 11: 74,820,647 (GRCm39) D306G probably damaging Het
Snx13 G A 12: 35,136,899 (GRCm39) W120* probably null Het
Snx5 A G 2: 144,099,128 (GRCm39) probably benign Het
Srsf5 T C 12: 80,994,298 (GRCm39) S76P probably benign Het
Stard6 A G 18: 70,629,186 (GRCm39) D31G probably damaging Het
Taf3 A G 2: 9,956,709 (GRCm39) M333T probably benign Het
Taf6 T G 5: 138,179,409 (GRCm39) I377L probably benign Het
Taf8 G T 17: 47,804,505 (GRCm39) N252K probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Tmtc4 C T 14: 123,215,572 (GRCm39) V25M probably damaging Het
Topbp1 T A 9: 103,205,886 (GRCm39) D841E probably damaging Het
Topbp1 T A 9: 103,185,932 (GRCm39) probably benign Het
Ttn A T 2: 76,542,833 (GRCm39) D33384E probably damaging Het
Unc13c T C 9: 73,838,067 (GRCm39) E928G probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r63 A G 7: 42,553,042 (GRCm39) I738T probably damaging Het
Vmn2r87 C T 10: 130,315,806 (GRCm39) E87K probably damaging Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L probably benign Het
Other mutations in Mthfr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Mthfr APN 4 148,125,727 (GRCm39) missense probably benign
IGL00911:Mthfr APN 4 148,125,759 (GRCm39) missense probably benign 0.01
R0116:Mthfr UTSW 4 148,135,980 (GRCm39) missense probably benign 0.00
R0207:Mthfr UTSW 4 148,136,681 (GRCm39) missense probably damaging 1.00
R0268:Mthfr UTSW 4 148,139,885 (GRCm39) missense probably damaging 1.00
R0762:Mthfr UTSW 4 148,139,900 (GRCm39) missense possibly damaging 0.65
R1433:Mthfr UTSW 4 148,139,900 (GRCm39) missense possibly damaging 0.92
R1464:Mthfr UTSW 4 148,138,029 (GRCm39) splice site probably benign
R1972:Mthfr UTSW 4 148,136,384 (GRCm39) missense probably damaging 1.00
R3154:Mthfr UTSW 4 148,136,061 (GRCm39) missense probably benign 0.12
R3407:Mthfr UTSW 4 148,139,518 (GRCm39) missense probably damaging 1.00
R3773:Mthfr UTSW 4 148,128,907 (GRCm39) missense probably benign 0.00
R4153:Mthfr UTSW 4 148,135,932 (GRCm39) missense probably damaging 0.99
R4291:Mthfr UTSW 4 148,139,949 (GRCm39) missense probably damaging 1.00
R4487:Mthfr UTSW 4 148,135,884 (GRCm39) missense probably benign 0.00
R4574:Mthfr UTSW 4 148,127,998 (GRCm39) missense possibly damaging 0.95
R4583:Mthfr UTSW 4 148,136,329 (GRCm39) missense possibly damaging 0.80
R4847:Mthfr UTSW 4 148,132,596 (GRCm39) missense probably damaging 0.99
R5183:Mthfr UTSW 4 148,135,817 (GRCm39) splice site probably null
R5536:Mthfr UTSW 4 148,128,940 (GRCm39) missense probably damaging 1.00
R5664:Mthfr UTSW 4 148,139,923 (GRCm39) missense probably damaging 1.00
R6161:Mthfr UTSW 4 148,126,211 (GRCm39) missense probably benign 0.35
R7285:Mthfr UTSW 4 148,138,056 (GRCm39) missense probably benign 0.01
R7427:Mthfr UTSW 4 148,136,060 (GRCm39) missense probably benign 0.00
R7428:Mthfr UTSW 4 148,136,060 (GRCm39) missense probably benign 0.00
R7474:Mthfr UTSW 4 148,137,059 (GRCm39) missense possibly damaging 0.95
R7823:Mthfr UTSW 4 148,135,944 (GRCm39) missense probably benign 0.29
R7826:Mthfr UTSW 4 148,139,467 (GRCm39) missense probably benign 0.00
R7975:Mthfr UTSW 4 148,127,920 (GRCm39) missense probably damaging 1.00
R8669:Mthfr UTSW 4 148,135,934 (GRCm39) missense probably benign 0.21
R8698:Mthfr UTSW 4 148,128,947 (GRCm39) nonsense probably null
R8714:Mthfr UTSW 4 148,126,275 (GRCm39) missense probably damaging 1.00
R8790:Mthfr UTSW 4 148,139,991 (GRCm39) missense probably benign 0.07
R8961:Mthfr UTSW 4 148,128,099 (GRCm39) missense probably damaging 1.00
R8981:Mthfr UTSW 4 148,139,451 (GRCm39) missense probably benign 0.00
R9098:Mthfr UTSW 4 148,126,082 (GRCm39) missense probably benign 0.10
R9221:Mthfr UTSW 4 148,132,626 (GRCm39) missense probably damaging 1.00
R9708:Mthfr UTSW 4 148,128,978 (GRCm39) nonsense probably null
R9781:Mthfr UTSW 4 148,132,710 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGCCCTGAAGGCCGTATGTTAG -3'
(R):5'- CAAAGTTCACCTCCTAGAGGCTGC -3'

Sequencing Primer
(F):5'- CACATGGTGTTTATTTCTGGGC -3'
(R):5'- CATCTTAGGTCCAGCCAGAG -3'
Posted On 2013-04-16