Incidental Mutation 'R5664:Mthfr'
ID 444245
Institutional Source Beutler Lab
Gene Symbol Mthfr
Ensembl Gene ENSMUSG00000029009
Gene Name methylenetetrahydrofolate reductase
Synonyms
MMRRC Submission 043307-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R5664 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 148123534-148144008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148139923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 656 (Y656H)
Ref Sequence ENSEMBL: ENSMUSP00000069774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069604] [ENSMUST00000097788] [ENSMUST00000152498]
AlphaFold Q9WU20
Predicted Effect probably damaging
Transcript: ENSMUST00000069604
AA Change: Y656H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069774
Gene: ENSMUSG00000029009
AA Change: Y656H

DomainStartEndE-ValueType
low complexity region 48 73 N/A INTRINSIC
Pfam:MTHFR 88 377 2.3e-121 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097788
AA Change: Y615H

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095395
Gene: ENSMUSG00000029009
AA Change: Y615H

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: Y631H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117095
Gene: ENSMUSG00000029009
AA Change: Y631H

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: Y112H
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,325,977 (GRCm39) probably null Het
9430015G10Rik T A 4: 156,208,016 (GRCm39) L112H probably damaging Het
Acaca T C 11: 84,134,210 (GRCm39) L441P probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arsj A T 3: 126,232,306 (GRCm39) I351F probably damaging Het
Atp6v1b2 A G 8: 69,560,272 (GRCm39) T373A probably damaging Het
Atr C A 9: 95,787,866 (GRCm39) N1486K probably benign Het
Avl9 T C 6: 56,730,824 (GRCm39) S583P probably damaging Het
Bptf A T 11: 106,964,525 (GRCm39) D1493E probably benign Het
Brme1 A T 8: 84,893,288 (GRCm39) I152F probably benign Het
C2cd2l T C 9: 44,225,069 (GRCm39) E548G probably damaging Het
Capn3 G A 2: 120,307,506 (GRCm39) R15Q probably benign Het
Ccl3 A G 11: 83,540,039 (GRCm39) F22S probably benign Het
Clcf1 T C 19: 4,272,150 (GRCm39) F69S probably damaging Het
Col13a1 T C 10: 61,686,895 (GRCm39) E170G probably damaging Het
Dhx29 T A 13: 113,083,413 (GRCm39) F489L probably damaging Het
Dhx8 A T 11: 101,631,577 (GRCm39) N390I probably damaging Het
Dkk1 T A 19: 30,526,189 (GRCm39) Y135F probably benign Het
Edil3 G T 13: 89,467,832 (GRCm39) V446F probably damaging Het
Epha5 T A 5: 84,479,725 (GRCm39) E93V probably damaging Het
Epsti1 C T 14: 78,201,104 (GRCm39) T196I possibly damaging Het
Fras1 T C 5: 96,876,394 (GRCm39) S2376P possibly damaging Het
Frem2 A G 3: 53,559,911 (GRCm39) V1532A probably benign Het
Fsip2 T A 2: 82,818,439 (GRCm39) M4724K probably benign Het
Gcat T A 15: 78,927,273 (GRCm39) L238Q probably damaging Het
Gimap6 T C 6: 48,679,209 (GRCm39) K276E probably benign Het
Gjb5 T A 4: 127,249,722 (GRCm39) I141F probably benign Het
Glt6d1 T C 2: 25,704,192 (GRCm39) I7V probably benign Het
Gtf2h5 G A 17: 6,134,799 (GRCm39) G30R probably damaging Het
Herc6 C A 6: 57,595,669 (GRCm39) T449K probably benign Het
Hpn A T 7: 30,798,687 (GRCm39) Y132N probably damaging Het
Hpx A T 7: 105,244,355 (GRCm39) M190K probably benign Het
Inf2 A G 12: 112,578,162 (GRCm39) H1151R unknown Het
Krt74 A G 15: 101,669,014 (GRCm39) noncoding transcript Het
Loxl3 G A 6: 83,026,863 (GRCm39) S564N probably benign Het
Map7 T A 10: 20,143,105 (GRCm39) V418E unknown Het
Mrpl37 T C 4: 106,921,588 (GRCm39) N214D probably benign Het
Myo9b A G 8: 71,812,526 (GRCm39) D2099G probably benign Het
Nktr T A 9: 121,578,483 (GRCm39) C825* probably null Het
Nomo1 A G 7: 45,725,581 (GRCm39) E1029G probably benign Het
Nup133 T C 8: 124,633,020 (GRCm39) D1037G probably benign Het
Or4b12 A G 2: 90,095,959 (GRCm39) F272L probably damaging Het
Or5w22 T C 2: 87,363,178 (GRCm39) L267P probably benign Het
Pcdhb14 T A 18: 37,582,049 (GRCm39) V385D possibly damaging Het
Pik3c2g T C 6: 139,682,733 (GRCm39) L38P probably damaging Het
Pkd1 A T 17: 24,788,345 (GRCm39) D701V probably damaging Het
Pnpla6 A G 8: 3,587,478 (GRCm39) T1070A probably damaging Het
Ppl T C 16: 4,923,919 (GRCm39) D185G probably benign Het
Prp2rt C A 13: 97,235,629 (GRCm39) L39F probably damaging Het
Prss1l C T 6: 41,371,605 (GRCm39) P17L probably benign Het
Prune1 A T 3: 95,165,489 (GRCm39) L261Q probably damaging Het
Qser1 A T 2: 104,608,541 (GRCm39) L1444I probably damaging Het
Serpina6 A C 12: 103,620,726 (GRCm39) C8G probably damaging Het
Sla2 A T 2: 156,716,919 (GRCm39) D180E probably benign Het
Slc4a4 C T 5: 89,176,103 (GRCm39) L25F probably damaging Het
Snhg16 A T 11: 116,563,490 (GRCm39) T27S possibly damaging Het
Tbx3 A G 5: 119,816,796 (GRCm39) K311R possibly damaging Het
Tdpoz6 A G 3: 93,599,994 (GRCm39) F125S probably benign Het
Thbs2 A T 17: 14,910,099 (GRCm39) C167S probably damaging Het
Trak1 T A 9: 121,301,373 (GRCm39) C710S possibly damaging Het
Tsks G A 7: 44,603,208 (GRCm39) E337K probably damaging Het
Vcpip1 A G 1: 9,816,604 (GRCm39) I593T probably damaging Het
Vmn2r118 A G 17: 55,899,765 (GRCm39) I713T possibly damaging Het
Vmn2r23 C T 6: 123,690,033 (GRCm39) T303M probably damaging Het
Vmn2r68 A T 7: 84,882,978 (GRCm39) M258K probably benign Het
Vmn2r76 A G 7: 85,895,202 (GRCm39) probably null Het
Wap A G 11: 6,588,609 (GRCm39) I5T possibly damaging Het
Zfp235 A C 7: 23,841,576 (GRCm39) H665P 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
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
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
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'- GGCCGTATGTTAGCACATGG -3'
(R):5'- TCCAGGTGAGGAAGATACCG -3'

Sequencing Primer
(F):5'- TTACCTGGGTGGCCTGCAG -3'
(R):5'- TTGAGGGATGCAGGCTCAC -3'
Posted On 2016-11-09