Incidental Mutation 'IGL02059:Bhmt2'
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: 0.232) question?
Stock #IGL02059
Quality Score
Chromosomal Location93655720-93674302 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93666663 bp
Amino Acid Change Tyrosine to Histidine at position 121 (Y121H)
Ref Sequence ENSEMBL: ENSMUSP00000015941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015941]
Predicted Effect probably benign
Transcript: ENSMUST00000015941
AA Change: Y121H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000015941
Gene: ENSMUSG00000042118
AA Change: Y121H

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A C 11: 110,160,394 probably benign Het
Anks1 A G 17: 28,008,046 M558V possibly damaging Het
Arhgef1 T A 7: 24,912,552 probably benign Het
Atad3a G A 4: 155,754,750 probably benign Het
Cbx5 A G 15: 103,199,765 V151A probably damaging Het
Copa T A 1: 172,099,753 I231N probably damaging Het
Csf3r T A 4: 126,032,127 C168* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnah9 A T 11: 66,072,958 I1723N probably damaging Het
Epb42 G A 2: 121,024,707 P466S probably damaging Het
Fem1b C T 9: 62,796,164 V605I possibly damaging Het
Gclc T G 9: 77,787,816 S403A probably damaging Het
Gpr135 A T 12: 72,070,084 V303D possibly damaging Het
Gprin3 C A 6: 59,355,325 probably benign Het
Grik1 T A 16: 88,056,049 Q82L possibly damaging Het
Hacl1 T C 14: 31,632,934 N118D probably benign Het
Hdac9 A G 12: 34,431,968 V146A probably damaging Het
Hltf T C 3: 20,106,457 F763L probably benign Het
Impg2 C T 16: 56,259,972 S713L probably damaging Het
Ints7 T A 1: 191,615,760 M748K probably benign Het
Kalrn A G 16: 34,252,341 S724P possibly damaging Het
Kyat1 T C 2: 30,185,553 Q359R probably benign Het
Mtmr4 A G 11: 87,601,124 N206S possibly damaging Het
Nos3 T C 5: 24,368,998 I227T probably damaging Het
Olfr589 T C 7: 103,155,103 I215V probably benign Het
Pde1a A T 2: 79,897,077 H169Q possibly damaging Het
Ppp1r13b A T 12: 111,833,347 D665E probably damaging Het
Prickle4 G T 17: 47,690,249 L131M probably damaging Het
Prl6a1 T A 13: 27,315,365 Y39N probably benign Het
Slco6d1 T C 1: 98,446,806 V350A possibly damaging Het
Srsf7 T A 17: 80,202,692 S209C probably null Het
Syde2 C T 3: 146,002,172 A622V possibly damaging Het
Ugt1a6a T A 1: 88,138,681 S70T possibly damaging Het
Vmn2r39 T C 7: 9,023,644 I453V probably benign Het
Zc3h7a A G 16: 11,160,998 probably benign Het
Zeb1 G T 18: 5,766,892 V468F probably damaging Het
Zfp148 T A 16: 33,496,563 V493D 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
IGL02239:Bhmt2 APN 13 93663179 missense probably benign 0.00
IGL02267:Bhmt2 APN 13 93669346 missense probably damaging 1.00
IGL03148:Bhmt2 APN 13 93666653 missense possibly damaging 0.48
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
Posted On2014-05-07