Incidental Mutation 'IGL01665:Bhmt2'
ID 103289
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 # IGL01665
Quality Score
Status
Chromosome 13
Chromosomal Location 93792605-93810810 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 93799661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 258 (Y258*)
Ref Sequence ENSEMBL: ENSMUSP00000015941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015941]
AlphaFold Q91WS4
Predicted Effect probably null
Transcript: ENSMUST00000015941
AA Change: Y258*
SMART Domains Protein: ENSMUSP00000015941
Gene: ENSMUSG00000042118
AA Change: Y258*

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 T A 9: 54,530,004 (GRCm39) I231L probably benign Het
Adcyap1 T A 17: 93,507,506 (GRCm39) V22D probably damaging Het
Adgra3 T C 5: 50,164,272 (GRCm39) T236A possibly damaging Het
Adipor2 A T 6: 119,338,887 (GRCm39) L122H probably benign Het
Atp1a4 T C 1: 172,074,291 (GRCm39) I321V probably benign Het
C230029F24Rik T A 1: 49,377,253 (GRCm39) noncoding transcript Het
Ccpg1 T A 9: 72,913,159 (GRCm39) F232I probably damaging Het
Cd83 A T 13: 43,955,153 (GRCm39) T195S probably benign Het
Cdcp3 G T 7: 130,848,386 (GRCm39) G847* probably null Het
Cfap70 G A 14: 20,453,186 (GRCm39) T897M probably damaging Het
Cyp3a11 T A 5: 145,805,475 (GRCm39) M181L probably benign Het
Frem2 C T 3: 53,457,083 (GRCm39) V2090I probably benign Het
Gm45234 A G 6: 124,723,571 (GRCm39) probably benign Het
Gm7964 T A 7: 83,406,341 (GRCm39) noncoding transcript Het
Igsf9 T A 1: 172,319,738 (GRCm39) C39* probably null Het
Il1rap A T 16: 26,541,463 (GRCm39) D568V probably damaging Het
Ints7 C T 1: 191,345,331 (GRCm39) probably benign Het
Lsamp C T 16: 41,964,375 (GRCm39) R250* probably null Het
Oit3 T A 10: 59,274,731 (GRCm39) D23V probably damaging Het
Pcdh17 T A 14: 84,684,442 (GRCm39) L303Q probably damaging Het
Pcdhb1 T A 18: 37,400,450 (GRCm39) N800K probably benign Het
Plce1 A G 19: 38,513,331 (GRCm39) D210G probably benign Het
Plekhb2 T A 1: 34,908,411 (GRCm39) Y152N probably damaging Het
Rbp3 T C 14: 33,678,088 (GRCm39) S679P probably benign Het
Rps6kc1 T C 1: 190,643,854 (GRCm39) T2A possibly damaging Het
Tmem167 T A 13: 90,246,504 (GRCm39) S9R probably damaging Het
Xpnpep1 A T 19: 52,985,463 (GRCm39) S522T probably benign Het
Other mutations in Bhmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Bhmt2 APN 13 93,803,279 (GRCm39) splice site probably benign
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 2014-01-21