Incidental Mutation 'R4487:Mthfr'
ID 331655
Institutional Source Beutler Lab
Gene Symbol Mthfr
Ensembl Gene ENSMUSG00000029009
Gene Name methylenetetrahydrofolate reductase
Synonyms
MMRRC Submission 041743-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R4487 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 148123534-148144008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148135884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 278 (K278R)
Ref Sequence ENSEMBL: ENSMUSP00000095395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069604] [ENSMUST00000097788] [ENSMUST00000152498]
AlphaFold Q9WU20
Predicted Effect probably benign
Transcript: ENSMUST00000069604
AA Change: K319R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000069774
Gene: ENSMUSG00000029009
AA Change: K319R

DomainStartEndE-ValueType
low complexity region 48 73 N/A INTRINSIC
Pfam:MTHFR 88 377 2.3e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097788
AA Change: K278R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000095395
Gene: ENSMUSG00000029009
AA Change: K278R

DomainStartEndE-ValueType
low complexity region 7 32 N/A INTRINSIC
Pfam:MTHFR 47 336 5.9e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152498
AA Change: K294R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117095
Gene: ENSMUSG00000029009
AA Change: K294R

DomainStartEndE-ValueType
low complexity region 23 48 N/A INTRINSIC
Pfam:MTHFR 63 352 2.4e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156113
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik A G 9: 50,651,931 (GRCm39) L99P probably damaging Het
Abcd2 A G 15: 91,062,486 (GRCm39) V484A probably damaging Het
Adgrv1 A G 13: 81,588,185 (GRCm39) I4467T probably damaging Het
Ash1l T A 3: 88,892,622 (GRCm39) D1500E possibly damaging Het
C1ql2 A T 1: 120,269,409 (GRCm39) Y188F possibly damaging Het
Cnga2 T A X: 71,049,733 (GRCm39) F133I possibly damaging Het
Crybg2 T C 4: 133,801,512 (GRCm39) S891P probably benign Het
Hao2 T A 3: 98,789,341 (GRCm39) I116F probably damaging Het
Htr1b A T 9: 81,513,592 (GRCm39) D338E probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif9 A G 9: 110,323,552 (GRCm39) E225G probably null Het
Krt76 T C 15: 101,798,917 (GRCm39) K256R possibly damaging Het
Mapk4 T C 18: 74,064,046 (GRCm39) D392G probably damaging Het
Mup4 T A 4: 59,960,547 (GRCm39) E18V probably damaging Het
Nepro A G 16: 44,556,089 (GRCm39) K416E probably damaging Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nmu A G 5: 76,491,909 (GRCm39) probably null Het
Nt5m A G 11: 59,739,173 (GRCm39) Y73C probably damaging Het
Oaz3 A T 3: 94,342,437 (GRCm39) probably null Het
Pgap1 A G 1: 54,567,751 (GRCm39) S365P probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pus7l A G 15: 94,429,498 (GRCm39) I440T possibly damaging Het
Raph1 C T 1: 60,542,028 (GRCm39) S362N possibly damaging Het
Rftn2 A G 1: 55,241,311 (GRCm39) Y330H possibly damaging Het
Rhot2 G A 17: 26,058,467 (GRCm39) H580Y probably benign Het
Rnase2a A T 14: 51,493,302 (GRCm39) M21K unknown Het
Rusf1 T C 7: 127,887,530 (GRCm39) D24G probably damaging Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Snx1 A T 9: 65,996,877 (GRCm39) V459E possibly damaging Het
Suz12 A G 11: 79,922,939 (GRCm39) T694A probably benign Het
Tg G A 15: 66,543,245 (GRCm39) C53Y probably damaging Het
Tor1aip1 G T 1: 155,882,870 (GRCm39) T326K probably damaging Het
Vmn1r61 C A 7: 5,613,924 (GRCm39) C130F possibly damaging Het
Xlr5b T C X: 72,201,504 (GRCm39) probably null 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
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
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'- CTCCCAGACTCTACAAATGAGAGAG -3'
(R):5'- CCACATGCCCAGTTGCTTTAG -3'

Sequencing Primer
(F):5'- GTACTGCCTTGCAATACCACCTG -3'
(R):5'- GGTATAGAAGTGGAGGCCT -3'
Posted On 2015-07-21