Incidental Mutation 'IGL02239:Bhmt2'
ID 286015
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: 0.106) question?
Stock # IGL02239
Quality Score
Status
Chromosome 13
Chromosomal Location 93792605-93810810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 93799687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 250 (G250R)
Ref Sequence ENSEMBL: ENSMUSP00000015941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015941]
AlphaFold Q91WS4
Predicted Effect probably benign
Transcript: ENSMUST00000015941
AA Change: G250R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000015941
Gene: ENSMUSG00000042118
AA Change: G250R

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,369,386 (GRCm39) E262G possibly damaging Het
Adgra3 T A 5: 50,118,054 (GRCm39) S1165C probably damaging Het
Akap11 A G 14: 78,751,289 (GRCm39) L366P probably damaging Het
Astn1 T C 1: 158,491,700 (GRCm39) probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntnap2 A G 6: 46,998,588 (GRCm39) D880G probably damaging Het
Erc1 A G 6: 119,750,852 (GRCm39) V443A probably damaging Het
Fbxw15 A G 9: 109,388,905 (GRCm39) I168T probably benign Het
Fgfr2 C T 7: 129,779,416 (GRCm39) A504T probably damaging Het
Galm A G 17: 80,452,467 (GRCm39) D135G probably damaging Het
Gstp3 C T 19: 4,107,899 (GRCm39) V145I possibly damaging Het
Hspa5 T C 2: 34,662,788 (GRCm39) F115L probably benign Het
Lig4 A C 8: 10,022,473 (GRCm39) S436A probably damaging Het
Ncam1 A G 9: 49,478,702 (GRCm39) V99A probably damaging Het
Nell1 T A 7: 49,899,398 (GRCm39) I336N probably benign Het
Or52ad1 T C 7: 102,995,805 (GRCm39) Y110C probably damaging Het
Or5p55 T C 7: 107,567,254 (GRCm39) S217P probably damaging Het
Or8g20 T A 9: 39,395,857 (GRCm39) I231F probably damaging Het
Patl1 A T 19: 11,914,723 (GRCm39) K625* probably null Het
Qrsl1 G A 10: 43,770,596 (GRCm39) P99S possibly damaging Het
Rfx8 T C 1: 39,720,046 (GRCm39) D343G probably benign Het
Scart2 T C 7: 139,875,756 (GRCm39) F340S probably damaging Het
Serpinb3a T A 1: 106,979,418 (GRCm39) Y28F probably benign Het
Slc6a4 A T 11: 76,917,982 (GRCm39) I575F probably benign Het
Tbx5 T A 5: 120,009,345 (GRCm39) S285T possibly damaging Het
Tmem229a A T 6: 24,955,539 (GRCm39) S72T probably damaging Het
Ttn T C 2: 76,576,748 (GRCm39) D24715G probably damaging Het
Zfp784 T C 7: 5,038,670 (GRCm39) probably benign Het
Zswim2 T A 2: 83,769,107 (GRCm39) K85* probably null Het
Other mutations in Bhmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Bhmt2 APN 13 93,803,279 (GRCm39) splice site probably benign
IGL01665:Bhmt2 APN 13 93,799,661 (GRCm39) nonsense probably null
IGL02059:Bhmt2 APN 13 93,803,171 (GRCm39) missense probably benign
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 2015-04-16