Incidental Mutation 'R0268:Mthfr'
ID 35055
Institutional Source Beutler Lab
Gene Symbol Mthfr
Ensembl Gene ENSMUSG00000029009
Gene Name methylenetetrahydrofolate reductase
Synonyms
MMRRC Submission 038494-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R0268 (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: 98.7%
  • 3x: 97.7%
  • 10x: 95.9%
  • 20x: 93.0%
Validation Efficiency 98% (93/95)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,274,027 (GRCm39) noncoding transcript Het
Aadacl4 A T 4: 144,349,565 (GRCm39) H274L probably benign Het
Aldh1a7 T A 19: 20,686,866 (GRCm39) probably null Het
Ap3m1 A C 14: 21,087,170 (GRCm39) 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
Avpr1a T C 10: 122,285,614 (GRCm39) V302A probably 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
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Cd209e T C 8: 3,899,125 (GRCm39) I196V probably benign Het
Cdc42bpa G T 1: 179,983,347 (GRCm39) probably benign Het
Cdcp3 A G 7: 130,839,905 (GRCm39) D609G probably damaging Het
Clec16a T A 16: 10,462,692 (GRCm39) L670* probably null Het
Cmtm2b A G 8: 105,049,066 (GRCm39) E27G probably damaging Het
Col4a1 T A 8: 11,317,588 (GRCm39) probably benign Het
Cyp26b1 A T 6: 84,551,554 (GRCm39) F221I probably damaging Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dip2c G A 13: 9,687,186 (GRCm39) R1270H probably damaging Het
Dlg1 T C 16: 31,503,011 (GRCm39) C73R probably benign Het
Dnah8 A G 17: 30,988,681 (GRCm39) D3217G probably damaging Het
Dtx1 T C 5: 120,819,356 (GRCm39) E614G probably damaging Het
Dut C A 2: 125,099,011 (GRCm39) A166E probably damaging Het
Ebf1 C A 11: 44,534,240 (GRCm39) D166E probably damaging Het
Egln2 A T 7: 26,864,672 (GRCm39) D84E possibly damaging Het
Exosc7 T A 9: 122,948,025 (GRCm39) S65T probably benign Het
Fam83e G A 7: 45,376,334 (GRCm39) R349Q probably benign Het
Fbxl17 G A 17: 63,692,062 (GRCm39) probably benign Het
Fras1 A G 5: 96,884,868 (GRCm39) N2582S probably damaging Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gfral A T 9: 76,104,383 (GRCm39) C210S probably damaging Het
Gls GGCTGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTGCTG 1: 52,271,853 (GRCm39) probably benign Het
Hcn4 A C 9: 58,767,445 (GRCm39) E1002A unknown Het
Hcrtr2 A G 9: 76,135,470 (GRCm39) V449A probably benign Het
Hectd1 T C 12: 51,815,891 (GRCm39) S1394G possibly damaging Het
Hectd1 C A 12: 51,815,890 (GRCm39) S1394I probably damaging Het
Hecw2 A G 1: 53,965,857 (GRCm39) probably benign Het
Herc3 A G 6: 58,845,613 (GRCm39) probably benign Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itsn2 G A 12: 4,750,333 (GRCm39) R1199Q probably benign Het
Kcnj3 C A 2: 55,484,971 (GRCm39) Y356* probably null Het
Klb T A 5: 65,506,180 (GRCm39) D142E probably benign Het
Klhl35 T A 7: 99,120,958 (GRCm39) S409T probably benign Het
Krt16 T A 11: 100,137,351 (GRCm39) probably benign Het
Krt82 C A 15: 101,450,148 (GRCm39) R516L probably benign Het
Lce3a A T 3: 92,833,038 (GRCm39) C21S unknown Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Map2 A T 1: 66,419,881 (GRCm39) K71* probably null Het
Mycbp2 T A 14: 103,551,761 (GRCm39) R157* probably null Het
Nat10 C A 2: 103,558,262 (GRCm39) probably benign Het
Obscn G A 11: 58,958,098 (GRCm39) T3810M possibly damaging Het
Or13a19 G A 7: 139,903,068 (GRCm39) S152N possibly damaging Het
Or1x6 T A 11: 50,939,768 (GRCm39) M278K probably damaging Het
Or5d35 A T 2: 87,855,812 (GRCm39) I249F probably damaging Het
Or5g29 A G 2: 85,421,645 (GRCm39) T254A possibly damaging Het
Or6c209 A T 10: 129,483,045 (GRCm39) D16V possibly damaging Het
Or7a38 C T 10: 78,753,439 (GRCm39) T255I probably damaging Het
Park7 A G 4: 150,992,806 (GRCm39) V20A possibly damaging Het
Pgm2 T A 5: 64,263,151 (GRCm39) V266E probably damaging Het
Phip G A 9: 82,753,341 (GRCm39) T1801I probably damaging Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Ppp1r12a T A 10: 108,109,242 (GRCm39) probably benign Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Ptprq A T 10: 107,541,409 (GRCm39) D372E probably benign Het
Ptprr G A 10: 116,088,868 (GRCm39) V340I possibly damaging Het
Qki A G 17: 10,428,575 (GRCm39) probably benign Het
Qpct T A 17: 79,385,081 (GRCm39) D240E probably benign Het
Ren1 A G 1: 133,283,349 (GRCm39) T162A possibly damaging Het
Rif1 T C 2: 51,980,298 (GRCm39) probably null Het
Sart3 A G 5: 113,890,460 (GRCm39) V461A probably damaging Het
Saxo4 A G 19: 10,454,449 (GRCm39) V329A possibly damaging Het
Scgb1b24 G A 7: 33,443,278 (GRCm39) G19R probably null Het
Spen A T 4: 141,204,868 (GRCm39) I1253N unknown Het
Sspo C A 6: 48,442,489 (GRCm39) H1995N probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Togaram2 T C 17: 72,004,993 (GRCm39) probably null Het
Trim65 T A 11: 116,017,470 (GRCm39) probably benign Het
Trpm3 T A 19: 22,874,885 (GRCm39) probably null Het
Ubxn7 T C 16: 32,178,864 (GRCm39) I87T probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r102 A G 17: 19,898,112 (GRCm39) T376A probably benign Het
Vmn2r105 A T 17: 20,428,938 (GRCm39) C713S probably benign Het
Zbtb45 C T 7: 12,742,254 (GRCm39) M1I probably null Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L probably benign Het
Zfp932 T C 5: 110,156,929 (GRCm39) I176T probably benign Het
Zswim1 G A 2: 164,668,046 (GRCm39) E433K probably damaging 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
R0344: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 2013-05-09