Incidental Mutation 'R9221:Mthfr'
ID 699451
Institutional Source Beutler Lab
Gene Symbol Mthfr
Ensembl Gene ENSMUSG00000029009
Gene Name methylenetetrahydrofolate reductase
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R9221 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 148123534-148144008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 148132626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 268 (Q268L)
Ref Sequence ENSEMBL: ENSMUSP00000069774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069604] [ENSMUST00000097788] [ENSMUST00000141283] [ENSMUST00000152498]
AlphaFold Q9WU20
Predicted Effect probably damaging
Transcript: ENSMUST00000069604
AA Change: Q268L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069774
Gene: ENSMUSG00000029009
AA Change: Q268L

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: Q227L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095395
Gene: ENSMUSG00000029009
AA Change: Q227L

DomainStartEndE-ValueType
low complexity region 7 32 N/A INTRINSIC
Pfam:MTHFR 47 336 5.9e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141283
SMART Domains Protein: ENSMUSP00000116239
Gene: ENSMUSG00000029009

DomainStartEndE-ValueType
low complexity region 7 32 N/A INTRINSIC
Pfam:MTHFR 47 194 7.4e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152498
AA Change: Q243L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117095
Gene: ENSMUSG00000029009
AA Change: Q243L

DomainStartEndE-ValueType
low complexity region 23 48 N/A INTRINSIC
Pfam:MTHFR 63 352 2.4e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156113
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,921,828 (GRCm39) D1128G probably damaging Het
Acsm3 A T 7: 119,368,131 (GRCm39) R116* probably null Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Ahnak T A 19: 8,989,943 (GRCm39) D3742E probably damaging Het
Arhgef17 A G 7: 100,528,818 (GRCm39) S598P possibly damaging Het
Asxl2 T C 12: 3,552,310 (GRCm39) F1351L probably damaging Het
Atg7 C T 6: 114,672,588 (GRCm39) T267I possibly damaging Het
Bace2 A G 16: 97,209,692 (GRCm39) K202R probably benign Het
Bccip G T 7: 133,311,249 (GRCm39) V55L probably benign Het
Bpifa1 T A 2: 153,988,052 (GRCm39) H198Q possibly damaging Het
Btbd7 A G 12: 102,777,430 (GRCm39) Y466H probably damaging Het
Cdc45 A C 16: 18,605,521 (GRCm39) S480A probably benign Het
Cenpe T C 3: 134,935,839 (GRCm39) Y425H possibly damaging Het
Cep76 A C 18: 67,767,977 (GRCm39) M185R probably damaging Het
Chd5 G T 4: 152,456,122 (GRCm39) M930I probably damaging Het
Clstn2 G T 9: 97,343,395 (GRCm39) T684K probably benign Het
Col4a2 A G 8: 11,491,943 (GRCm39) N1270S possibly damaging Het
Crxos A G 7: 15,636,850 (GRCm39) H141R probably benign Het
Dcc A G 18: 71,553,433 (GRCm39) I741T possibly damaging Het
Ddx20 A T 3: 105,587,685 (GRCm39) C430* probably null Het
Dgki G A 6: 37,273,615 (GRCm39) T12M probably benign Het
Dock6 T C 9: 21,721,153 (GRCm39) N1676S possibly damaging Het
Exosc6 G A 8: 111,783,028 (GRCm39) R9H probably damaging Het
Fstl5 A G 3: 76,569,114 (GRCm39) Q589R probably damaging Het
Gm4846 T A 1: 166,324,959 (GRCm39) Y44F probably benign Het
Gpr15lg A G 14: 36,829,352 (GRCm39) S44P probably damaging Het
Gtf3c2 A C 5: 31,326,401 (GRCm39) I370R probably damaging Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Hspg2 A G 4: 137,287,726 (GRCm39) M3696V possibly damaging Het
Itga1 A T 13: 115,166,695 (GRCm39) C167* probably null Het
Khdc4 T C 3: 88,593,853 (GRCm39) S81P probably benign Het
Kpna2 A G 11: 106,880,158 (GRCm39) S497P probably damaging Het
Krt77 T A 15: 101,774,064 (GRCm39) T197S probably damaging Het
Krtap6-5 T C 16: 88,844,655 (GRCm39) Y26C unknown Het
Lhfpl5 A T 17: 28,799,133 (GRCm39) D214V possibly damaging Het
Lrrtm1 A G 6: 77,221,596 (GRCm39) E351G probably damaging Het
Mphosph9 A G 5: 124,403,427 (GRCm39) V867A probably benign Het
Mtcl1 T A 17: 66,650,879 (GRCm39) M1529L probably benign Het
Myo1d A T 11: 80,565,744 (GRCm39) N360K probably damaging Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Or1e33 A T 11: 73,738,108 (GRCm39) V281E probably damaging Het
Or4p8 T C 2: 88,727,255 (GRCm39) S229G probably benign Het
Or5an1b A T 19: 12,299,336 (GRCm39) M285K probably damaging Het
Or5m11 T A 2: 85,782,185 (GRCm39) Y259* probably null Het
P2rx5 A T 11: 73,062,655 (GRCm39) T455S probably damaging Het
Palld A T 8: 61,969,591 (GRCm39) F1244L unknown Het
Pbld1 A G 10: 62,907,829 (GRCm39) T125A Het
Pde3b G A 7: 114,014,697 (GRCm39) probably benign Het
Pfkm T C 15: 98,019,188 (GRCm39) S180P probably damaging Het
Pla2g4d T A 2: 120,100,453 (GRCm39) R626S possibly damaging Het
Postn A G 3: 54,282,515 (GRCm39) E492G possibly damaging Het
Prph2 A G 17: 47,230,818 (GRCm39) D237G probably damaging Het
Psmd4 T C 3: 94,942,604 (GRCm39) H105R probably damaging Het
Pygl T C 12: 70,242,401 (GRCm39) N685S probably damaging Het
Rp1 A G 1: 4,315,266 (GRCm39) F502S unknown Het
Sik1 T C 17: 32,066,167 (GRCm39) I607V probably benign Het
Slc26a3 T A 12: 31,513,470 (GRCm39) I464N possibly damaging Het
Slc38a9 A G 13: 112,825,910 (GRCm39) N116S probably damaging Het
Sorcs2 C A 5: 36,181,910 (GRCm39) probably null Het
Spink5 T C 18: 44,119,367 (GRCm39) L226P probably damaging Het
Tab1 G A 15: 80,034,754 (GRCm39) V180I probably benign Het
Tacc2 T G 7: 130,226,058 (GRCm39) S914R probably damaging Het
Tacc2 C T 7: 130,226,209 (GRCm39) R965C probably benign Het
Tlr9 A G 9: 106,101,972 (GRCm39) D421G probably damaging Het
Tmem181a T C 17: 6,307,265 (GRCm39) L16P probably damaging Het
Trim58 A T 11: 58,542,075 (GRCm39) H345L probably damaging Het
Ttc13 G A 8: 125,400,290 (GRCm39) R688C probably benign Het
Ube2o C A 11: 116,433,664 (GRCm39) V685L probably damaging Het
Uso1 A G 5: 92,335,173 (GRCm39) H511R probably benign Het
Vmn2r5 A T 3: 64,411,721 (GRCm39) Y282* 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
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
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'- ACTGTTTCTGGGAAGACCACC -3'
(R):5'- GCACTGAGCATCACTGAGGAAG -3'

Sequencing Primer
(F):5'- TTCTGGGAAGACCACCGCATG -3'
(R):5'- GAAGAACTTCCGCATGCACTGG -3'
Posted On 2022-02-07