Incidental Mutation 'IGL03148:Bhmt2'
ID410981
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bhmt2
Ensembl Gene ENSMUSG00000042118
Gene Namebetaine-homocysteine methyltransferase 2
SynonymsC81077, D13Ucla2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #IGL03148
Quality Score
Status
Chromosome13
Chromosomal Location93655720-93674302 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 93666653 bp
ZygosityHeterozygous
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]
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: 99,837,253 S255P unknown Het
Adamtsl2 T A 2: 27,084,059 Y125N probably damaging Het
Ankrd9 T C 12: 110,976,859 E214G probably benign Het
Ccdc150 A G 1: 54,278,715 H271R possibly damaging Het
Clcn1 T G 6: 42,299,991 probably null Het
Col6a3 T A 1: 90,827,866 I234F probably benign Het
Cpa5 T A 6: 30,630,437 M330K probably damaging Het
Csmd2 G A 4: 128,384,269 C995Y probably damaging Het
D630003M21Rik T C 2: 158,217,224 E252G probably damaging Het
Dhrs1 A T 14: 55,741,291 Y133* probably null Het
Dock10 T C 1: 80,540,358 I1300V probably benign Het
Efcab12 T C 6: 115,810,991 Y670C probably damaging Het
Frg1 T G 8: 41,411,284 K66N probably benign Het
Gbp2b C A 3: 142,606,881 H342N probably benign Het
Gm3259 A G 5: 95,341,318 T207A possibly damaging Het
Gria4 T A 9: 4,464,295 I556F possibly damaging Het
Kcnh1 T G 1: 192,276,999 I287S probably damaging Het
Map1b A G 13: 99,441,695 L150P probably damaging Het
Map3k4 C T 17: 12,238,158 R1299Q probably benign Het
Mapk10 T C 5: 102,926,105 N407D probably damaging Het
Mcemp1 T A 8: 3,667,390 probably null Het
Nav1 A C 1: 135,470,024 N802K possibly damaging Het
Pcdhb2 T A 18: 37,296,778 N601K probably damaging Het
Pi4ka T A 16: 17,354,189 H564L probably damaging Het
Pnp T A 14: 50,950,728 probably benign Het
Ppp2r2a G T 14: 67,022,295 N317K probably benign Het
Rars2 A T 4: 34,650,243 I343F possibly damaging Het
Rnf213 T C 11: 119,465,007 F4092S probably damaging Het
Tcp11 A G 17: 28,070,470 V209A possibly damaging Het
Tet2 T C 3: 133,481,363 S1102G probably benign Het
Wdr92 G A 11: 17,229,845 G282E probably damaging Het
Other mutations in Bhmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Bhmt2 APN 13 93666771 splice site probably benign
IGL01665:Bhmt2 APN 13 93663153 nonsense probably null
IGL02059:Bhmt2 APN 13 93666663 missense probably benign
IGL02239:Bhmt2 APN 13 93663179 missense probably benign 0.00
IGL02267:Bhmt2 APN 13 93669346 missense probably damaging 1.00
R1171:Bhmt2 UTSW 13 93662329 missense probably benign 0.00
R1517:Bhmt2 UTSW 13 93662339 missense probably damaging 0.97
R1886:Bhmt2 UTSW 13 93662490 missense probably benign 0.02
R2167:Bhmt2 UTSW 13 93662504 missense probably benign 0.29
R4024:Bhmt2 UTSW 13 93663331 splice site probably benign
R4823:Bhmt2 UTSW 13 93663290 missense probably benign
R5273:Bhmt2 UTSW 13 93666578 missense possibly damaging 0.84
R5333:Bhmt2 UTSW 13 93671430 missense probably benign 0.00
R5738:Bhmt2 UTSW 13 93663290 missense probably benign
R5955:Bhmt2 UTSW 13 93663197 missense probably benign 0.00
R6281:Bhmt2 UTSW 13 93663160 missense probably damaging 1.00
R6858:Bhmt2 UTSW 13 93671440 missense probably damaging 0.97
R6934:Bhmt2 UTSW 13 93662311 missense probably benign 0.18
R6985:Bhmt2 UTSW 13 93663322 missense possibly damaging 0.64
R7185:Bhmt2 UTSW 13 93663271 missense probably benign 0.22
R7639:Bhmt2 UTSW 13 93663314 missense probably damaging 1.00
Posted On2016-08-02