Incidental Mutation 'R0279:Bhmt'
ID 24578
Institutional Source Beutler Lab
Gene Symbol Bhmt
Ensembl Gene ENSMUSG00000074768
Gene Name betaine-homocysteine methyltransferase
Synonyms
MMRRC Submission 038501-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0279 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 93753399-93774266 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93761972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 104 (C104R)
Ref Sequence ENSEMBL: ENSMUSP00000096912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099309]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000099309
AA Change: C104R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096912
Gene: ENSMUSG00000074768
AA Change: C104R

DomainStartEndE-ValueType
Pfam:S-methyl_trans 23 314 5e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143025
Meta Mutation Damage Score 0.9308 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.1%
  • 20x: 89.6%
Validation Efficiency 99% (82/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit slow postnatal weight gain, altered homocysteine, choline, and one-carbon homeostasis, fatty liver, and hepatocellular carcinomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610528J11Rik A T 4: 118,386,490 (GRCm39) M1L probably benign Het
5730596B20Rik T A 6: 52,156,182 (GRCm39) probably benign Het
Acrbp T C 6: 125,030,917 (GRCm39) probably null Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Acss3 A G 10: 106,920,732 (GRCm39) I126T possibly damaging Het
Aff3 T C 1: 38,574,650 (GRCm39) E110G probably damaging Het
Aldh1a3 T C 7: 66,059,000 (GRCm39) I113V probably benign Het
Aplp2 T C 9: 31,069,086 (GRCm39) E525G probably damaging Het
Atp2b4 A G 1: 133,657,440 (GRCm39) probably benign Het
Atp8a1 C T 5: 67,970,435 (GRCm39) probably null Het
Cct5 T G 15: 31,591,177 (GRCm39) E508A probably damaging Het
Celsr1 T A 15: 85,787,065 (GRCm39) E2761D probably benign Het
Clstn1 T C 4: 149,728,131 (GRCm39) S600P probably damaging Het
Cnppd1 A G 1: 75,113,573 (GRCm39) S232P probably damaging Het
Crybb3 T C 5: 113,227,619 (GRCm39) probably null Het
Csmd1 A G 8: 16,273,249 (GRCm39) I861T probably damaging Het
Cyp2d10 A C 15: 82,289,540 (GRCm39) S191A possibly damaging Het
Ddx10 T C 9: 53,146,604 (GRCm39) D206G probably damaging Het
Dnah1 G T 14: 31,024,332 (GRCm39) H916N possibly damaging Het
Dnah9 A G 11: 65,802,615 (GRCm39) probably null Het
Epb42 G A 2: 120,859,525 (GRCm39) probably benign Het
Etnppl A G 3: 130,423,062 (GRCm39) R248G probably damaging Het
Eya3 T C 4: 132,446,558 (GRCm39) F369L probably damaging Het
Fam170b T C 14: 32,556,025 (GRCm39) probably benign Het
Fli1 A T 9: 32,372,723 (GRCm39) V105D probably damaging Het
Fmo1 T C 1: 162,657,841 (GRCm39) I433M possibly damaging Het
Fndc3b C A 3: 27,511,155 (GRCm39) C785F probably benign Het
Foxe3 T C 4: 114,782,765 (GRCm39) D149G probably damaging Het
Gk5 T C 9: 96,056,857 (GRCm39) probably benign Het
Gm14226 A G 2: 154,867,372 (GRCm39) D443G possibly damaging Het
Gm9796 C T 11: 95,588,821 (GRCm39) noncoding transcript Het
Golga4 A T 9: 118,398,061 (GRCm39) R52S probably benign Het
Hey2 C A 10: 30,710,006 (GRCm39) C249F probably damaging Het
Ipo9 A T 1: 135,348,101 (GRCm39) probably benign Het
Ireb2 C A 9: 54,793,877 (GRCm39) T269K probably benign Het
Kansl3 A G 1: 36,391,050 (GRCm39) V274A probably damaging Het
Kcnk2 C T 1: 188,942,169 (GRCm39) A352T possibly damaging Het
Lamc2 T C 1: 153,006,442 (GRCm39) E903G probably benign Het
Lepr A G 4: 101,607,541 (GRCm39) K253R probably benign Het
Lmntd2 T C 7: 140,793,536 (GRCm39) probably benign Het
Lrrc39 A T 3: 116,371,952 (GRCm39) T240S probably benign Het
Lrrc43 A G 5: 123,635,085 (GRCm39) probably null Het
Maf T C 8: 116,432,495 (GRCm39) M370V possibly damaging Het
Mib2 G A 4: 155,745,673 (GRCm39) S46L possibly damaging Het
Mms22l C T 4: 24,497,867 (GRCm39) T63I probably damaging Het
Morc2a T A 11: 3,633,989 (GRCm39) S700R probably benign Het
Mpz A G 1: 170,987,498 (GRCm39) probably benign Het
Ncam2 T C 16: 81,420,225 (GRCm39) probably benign Het
Niban1 T C 1: 151,584,957 (GRCm39) probably null Het
Nudt14 C T 12: 112,902,037 (GRCm39) A123T probably damaging Het
Odad3 A G 9: 21,901,543 (GRCm39) probably benign Het
Or10h1 C T 17: 33,418,298 (GRCm39) T92I probably benign Het
Or2a7 G A 6: 43,151,692 (GRCm39) M257I probably benign Het
Or9g20 A T 2: 85,629,879 (GRCm39) I245N possibly damaging Het
Otoa T C 7: 120,710,302 (GRCm39) probably benign Het
Pik3cg G A 12: 32,254,790 (GRCm39) T399I probably damaging Het
Pkn3 C T 2: 29,973,309 (GRCm39) A377V probably benign Het
Ppan A G 9: 20,802,825 (GRCm39) N327S probably benign Het
Prkca T C 11: 107,944,937 (GRCm39) probably benign Het
Prrc2c A T 1: 162,543,033 (GRCm39) V320E probably damaging Het
Ptprq A G 10: 107,444,278 (GRCm39) V1442A probably damaging Het
Rapgef1 C T 2: 29,616,239 (GRCm39) R834C probably damaging Het
Rbms1 G T 2: 60,672,754 (GRCm39) N44K probably damaging Het
Rfwd3 A C 8: 112,009,365 (GRCm39) F404V probably benign Het
Rimbp3 G T 16: 17,027,317 (GRCm39) R247L probably benign Het
Serpinb1b T C 13: 33,277,696 (GRCm39) S310P possibly damaging Het
Smtn C A 11: 3,480,235 (GRCm39) V329L probably damaging Het
Snapc2 T C 8: 4,304,979 (GRCm39) probably benign Het
Spam1 A T 6: 24,800,418 (GRCm39) M386L probably benign Het
Syne2 A G 12: 76,142,387 (GRCm39) E6208G probably damaging Het
Teddm1a T C 1: 153,768,369 (GRCm39) Y278H probably damaging Het
Tnfaip6 A T 2: 51,945,928 (GRCm39) N258I possibly damaging Het
Trpm4 C T 7: 44,971,472 (GRCm39) R188Q probably damaging Het
Ttbk2 A T 2: 120,579,441 (GRCm39) H491Q probably benign Het
Urgcp C T 11: 5,666,989 (GRCm39) E450K probably benign Het
Vmn1r228 T C 17: 20,996,637 (GRCm39) N294D probably benign Het
Wdfy3 A T 5: 102,015,958 (GRCm39) C2606S probably damaging Het
Wdr33 T A 18: 32,021,377 (GRCm39) H642Q unknown Het
Zbtb46 A G 2: 181,053,567 (GRCm39) S382P possibly damaging Het
Zfp217 A G 2: 169,961,700 (GRCm39) I209T probably benign Het
Zranb3 T A 1: 127,891,510 (GRCm39) N822I probably benign Het
Other mutations in Bhmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Bhmt APN 13 93,761,917 (GRCm39) missense probably damaging 1.00
IGL02365:Bhmt APN 13 93,754,146 (GRCm39) missense probably benign
IGL02556:Bhmt APN 13 93,774,008 (GRCm39) utr 5 prime probably benign
R1853:Bhmt UTSW 13 93,761,843 (GRCm39) missense probably damaging 0.98
R2012:Bhmt UTSW 13 93,761,900 (GRCm39) missense probably damaging 1.00
R2065:Bhmt UTSW 13 93,754,120 (GRCm39) missense probably benign 0.01
R2283:Bhmt UTSW 13 93,756,809 (GRCm39) missense probably damaging 1.00
R3429:Bhmt UTSW 13 93,763,855 (GRCm39) missense probably damaging 1.00
R3430:Bhmt UTSW 13 93,763,855 (GRCm39) missense probably damaging 1.00
R4166:Bhmt UTSW 13 93,762,007 (GRCm39) splice site probably benign
R4729:Bhmt UTSW 13 93,763,871 (GRCm39) missense probably damaging 0.97
R5135:Bhmt UTSW 13 93,763,831 (GRCm39) missense probably damaging 0.99
R5277:Bhmt UTSW 13 93,761,393 (GRCm39) missense possibly damaging 0.64
R7233:Bhmt UTSW 13 93,758,025 (GRCm39) nonsense probably null
R7553:Bhmt UTSW 13 93,756,589 (GRCm39) critical splice donor site probably null
R7828:Bhmt UTSW 13 93,754,156 (GRCm39) missense possibly damaging 0.55
R8499:Bhmt UTSW 13 93,756,600 (GRCm39) missense probably benign 0.18
R9621:Bhmt UTSW 13 93,758,079 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- TTCTGGCCTCCTGAGAGTAAGGAAG -3'
(R):5'- TGCAGACTGCTAGACTCGGTCAAC -3'

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