Incidental Mutation 'IGL00330:Bhmt2'
ID 4265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bhmt2
Ensembl Gene ENSMUSG00000042118
Gene Name betaine-homocysteine methyltransferase 2
Synonyms C81077, D13Ucla2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL00330
Quality Score
Status
Chromosome 13
Chromosomal Location 93792605-93810810 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 93803279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000015941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015941]
AlphaFold Q91WS4
Predicted Effect probably benign
Transcript: ENSMUST00000015941
SMART Domains Protein: ENSMUSP00000015941
Gene: ENSMUSG00000042118

DomainStartEndE-ValueType
Pfam:S-methyl_trans 23 305 3.9e-44 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik T G 1: 192,857,087 (GRCm39) D146E probably benign Het
Alpi A T 1: 87,027,442 (GRCm39) L308Q probably damaging Het
Bsn T C 9: 107,992,539 (GRCm39) E1071G probably damaging Het
Car3 A T 3: 14,933,439 (GRCm39) N128Y probably benign Het
Cdkl2 C T 5: 92,165,236 (GRCm39) probably null Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Cul9 T C 17: 46,821,767 (GRCm39) probably benign Het
Gpr149 T G 3: 62,438,094 (GRCm39) I688L probably damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Kif19a G A 11: 114,670,411 (GRCm39) G107D probably damaging Het
Loxhd1 A C 18: 77,483,146 (GRCm39) R1242S probably damaging Het
Ms4a6c T C 19: 11,455,676 (GRCm39) Y162H probably benign Het
Msrb2 G T 2: 19,376,510 (GRCm39) R6L unknown Het
Myh2 A G 11: 67,084,266 (GRCm39) N1630D probably benign Het
Myrf A G 19: 10,201,877 (GRCm39) V200A probably benign Het
Ncor2 A G 5: 125,119,807 (GRCm39) probably null Het
Nrg1 T A 8: 32,308,117 (GRCm39) Q621L probably damaging Het
Or11h6 G A 14: 50,880,625 (GRCm39) A296T probably benign Het
Or5bw2 A T 7: 6,573,667 (GRCm39) I226F possibly damaging Het
Pfkp A G 13: 6,669,586 (GRCm39) F211S probably damaging Het
Pramex1 T C X: 134,515,258 (GRCm39) N273S probably benign Het
Prss1l T C 6: 41,371,707 (GRCm39) L51P probably damaging Het
Pwwp3b A G X: 138,136,443 (GRCm39) D327G probably damaging Het
Rnh1 G A 7: 140,746,644 (GRCm39) A49V possibly damaging Het
Serhl C T 15: 82,988,574 (GRCm39) S167F probably benign Het
Skint1 T C 4: 111,878,777 (GRCm39) probably null Het
Taar7b A C 10: 23,876,740 (GRCm39) I302L probably benign Het
Tasor2 A G 13: 3,624,832 (GRCm39) F1706S probably benign Het
Zfp106 G A 2: 120,369,978 (GRCm39) P15S probably benign Het
Zfp385b T C 2: 77,307,122 (GRCm39) Q167R probably damaging Het
Zfp800 T A 6: 28,243,037 (GRCm39) T643S probably benign Het
Other mutations in Bhmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01665:Bhmt2 APN 13 93,799,661 (GRCm39) nonsense probably null
IGL02059:Bhmt2 APN 13 93,803,171 (GRCm39) missense probably benign
IGL02239:Bhmt2 APN 13 93,799,687 (GRCm39) missense probably benign 0.00
IGL02267:Bhmt2 APN 13 93,805,854 (GRCm39) missense probably damaging 1.00
IGL03148:Bhmt2 APN 13 93,803,161 (GRCm39) missense possibly damaging 0.48
R1171:Bhmt2 UTSW 13 93,798,837 (GRCm39) missense probably benign 0.00
R1517:Bhmt2 UTSW 13 93,798,847 (GRCm39) missense probably damaging 0.97
R1886:Bhmt2 UTSW 13 93,798,998 (GRCm39) missense probably benign 0.02
R2167:Bhmt2 UTSW 13 93,799,012 (GRCm39) missense probably benign 0.29
R4024:Bhmt2 UTSW 13 93,799,839 (GRCm39) splice site probably benign
R4823:Bhmt2 UTSW 13 93,799,798 (GRCm39) missense probably benign
R5273:Bhmt2 UTSW 13 93,803,086 (GRCm39) missense possibly damaging 0.84
R5333:Bhmt2 UTSW 13 93,807,938 (GRCm39) missense probably benign 0.00
R5738:Bhmt2 UTSW 13 93,799,798 (GRCm39) missense probably benign
R5955:Bhmt2 UTSW 13 93,799,705 (GRCm39) missense probably benign 0.00
R6281:Bhmt2 UTSW 13 93,799,668 (GRCm39) missense probably damaging 1.00
R6858:Bhmt2 UTSW 13 93,807,948 (GRCm39) missense probably damaging 0.97
R6934:Bhmt2 UTSW 13 93,798,819 (GRCm39) missense probably benign 0.18
R6985:Bhmt2 UTSW 13 93,799,830 (GRCm39) missense possibly damaging 0.64
R7185:Bhmt2 UTSW 13 93,799,779 (GRCm39) missense probably benign 0.22
R7639:Bhmt2 UTSW 13 93,799,822 (GRCm39) missense probably damaging 1.00
R8412:Bhmt2 UTSW 13 93,798,820 (GRCm39) missense possibly damaging 0.49
R9224:Bhmt2 UTSW 13 93,805,854 (GRCm39) missense probably damaging 1.00
R9479:Bhmt2 UTSW 13 93,799,833 (GRCm39) missense probably damaging 0.99
Posted On 2012-04-20