Incidental Mutation 'IGL03148:Bhmt2'
ID 410981
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 # IGL03148
Quality Score
Status
Chromosome 13
Chromosomal Location 93792605-93810810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93803161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 124 (D124V)
Ref Sequence ENSEMBL: ENSMUSP00000015941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015941]
AlphaFold Q91WS4
Predicted Effect possibly damaging
Transcript: ENSMUST00000015941
AA Change: D124V

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000015941
Gene: ENSMUSG00000042118
AA Change: D124V

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A G 11: 99,728,079 (GRCm39) S255P unknown Het
Adamtsl2 T A 2: 26,974,071 (GRCm39) Y125N probably damaging Het
Ankrd9 T C 12: 110,943,293 (GRCm39) E214G probably benign Het
Ccdc150 A G 1: 54,317,874 (GRCm39) H271R possibly damaging Het
Clcn1 T G 6: 42,276,925 (GRCm39) probably null Het
Col6a3 T A 1: 90,755,588 (GRCm39) I234F probably benign Het
Cpa5 T A 6: 30,630,436 (GRCm39) M330K probably damaging Het
Csmd2 G A 4: 128,278,062 (GRCm39) C995Y probably damaging Het
D630003M21Rik T C 2: 158,059,144 (GRCm39) E252G probably damaging Het
Dhrs1 A T 14: 55,978,748 (GRCm39) Y133* probably null Het
Dnaaf10 G A 11: 17,179,845 (GRCm39) G282E probably damaging Het
Dock10 T C 1: 80,518,075 (GRCm39) I1300V probably benign Het
Efcab12 T C 6: 115,787,952 (GRCm39) Y670C probably damaging Het
Frg1 T G 8: 41,864,321 (GRCm39) K66N probably benign Het
Gbp2b C A 3: 142,312,642 (GRCm39) H342N probably benign Het
Gria4 T A 9: 4,464,295 (GRCm39) I556F possibly damaging Het
Kcnh1 T G 1: 191,959,307 (GRCm39) I287S probably damaging Het
Map1b A G 13: 99,578,203 (GRCm39) L150P probably damaging Het
Map3k4 C T 17: 12,457,045 (GRCm39) R1299Q probably benign Het
Mapk10 T C 5: 103,073,971 (GRCm39) N407D probably damaging Het
Mcemp1 T A 8: 3,717,390 (GRCm39) probably null Het
Nav1 A C 1: 135,397,762 (GRCm39) N802K possibly damaging Het
Pcdhb2 T A 18: 37,429,831 (GRCm39) N601K probably damaging Het
Pi4ka T A 16: 17,172,053 (GRCm39) H564L probably damaging Het
Pnp T A 14: 51,188,185 (GRCm39) probably benign Het
Ppp2r2a G T 14: 67,259,744 (GRCm39) N317K probably benign Het
Pramel47 A G 5: 95,489,177 (GRCm39) T207A possibly damaging Het
Rars2 A T 4: 34,650,243 (GRCm39) I343F possibly damaging Het
Rnf213 T C 11: 119,355,833 (GRCm39) F4092S probably damaging Het
Tcp11 A G 17: 28,289,444 (GRCm39) V209A possibly damaging Het
Tet2 T C 3: 133,187,124 (GRCm39) S1102G probably benign 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
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
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 2016-08-02