Incidental Mutation 'IGL01730:Bhmt'
ID105442
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bhmt
Ensembl Gene ENSMUSG00000074768
Gene Namebetaine-homocysteine methyltransferase
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01730
Quality Score
Status
Chromosome13
Chromosomal Location93616675-93637961 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93625409 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 122 (V122E)
Ref Sequence ENSEMBL: ENSMUSP00000096912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099309]
Predicted Effect probably damaging
Transcript: ENSMUST00000099309
AA Change: V122E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096912
Gene: ENSMUSG00000074768
AA Change: V122E

DomainStartEndE-ValueType
Pfam:S-methyl_trans 23 314 5e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143025
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit slow postnatal weight gain, altered homocysteine, choline, and one-carbon homeostasis, fatty liver, and hepatocellular carcinomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 35,962,239 E287G probably damaging Het
Camta1 A G 4: 151,062,845 I585T probably damaging Het
Cfap221 A G 1: 119,934,111 S645P probably benign Het
Derl1 A T 15: 57,892,147 F50Y possibly damaging Het
Dhrs3 T C 4: 144,919,472 S117P probably damaging Het
E2f8 A T 7: 48,877,934 probably benign Het
Fam46b A T 4: 133,486,522 probably null Het
Fbn1 A T 2: 125,312,974 probably benign Het
Fbxo15 A G 18: 84,964,174 I250M probably benign Het
Ghr A T 15: 3,320,584 S371T probably damaging Het
Gm5884 A T 6: 128,645,706 noncoding transcript Het
Grhl2 T C 15: 37,337,774 V496A probably benign Het
Gsap A G 5: 21,290,154 probably benign Het
Irak3 T C 10: 120,178,100 D148G probably benign Het
Itga2 A T 13: 114,854,411 probably benign Het
Kif13b T C 14: 64,750,361 probably null Het
Kif20b A T 19: 34,950,523 K1022* probably null Het
Klhl17 G T 4: 156,231,700 S399* probably null Het
Lcp2 A T 11: 34,050,943 D42V possibly damaging Het
Lin7c G T 2: 109,896,440 G145* probably null Het
Lrba A G 3: 86,741,424 D2493G possibly damaging Het
Mobp A G 9: 120,167,926 D41G probably damaging Het
Mycbp2 G A 14: 103,135,204 Q785* probably null Het
Myl6b T C 10: 128,496,342 Y85C possibly damaging Het
Nup133 G T 8: 123,938,233 H240N probably benign Het
Olfr1448 A C 19: 12,919,562 F249C probably damaging Het
Plk4 T C 3: 40,805,850 S394P probably benign Het
Prepl A G 17: 85,081,175 Y167H possibly damaging Het
Prkab1 A G 5: 116,021,492 L105P probably damaging Het
Ryr2 T A 13: 11,601,842 I3897L possibly damaging Het
Sema3c A G 5: 17,711,436 S469G probably benign Het
Serpinb3c T A 1: 107,273,184 S168C probably damaging Het
Snapc4 A T 2: 26,363,724 probably null Het
Sorcs2 A T 5: 36,047,809 M528K probably damaging Het
Spink10 T A 18: 62,651,745 probably null Het
Thsd7a C A 6: 12,554,981 Q301H probably benign Het
Tmem135 A T 7: 89,148,044 F335I possibly damaging Het
Tshr A T 12: 91,519,303 D217V possibly damaging Het
Ttyh1 G A 7: 4,125,721 V206M possibly damaging Het
Tusc3 T G 8: 39,164,839 *348G probably null Het
Vmn2r76 G A 7: 86,230,198 T298I probably benign Het
Wdr47 T C 3: 108,611,396 F67L probably damaging Het
Other mutations in Bhmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02365:Bhmt APN 13 93617638 missense probably benign
IGL02556:Bhmt APN 13 93637500 utr 5 prime probably benign
R0279:Bhmt UTSW 13 93625464 missense probably damaging 1.00
R1853:Bhmt UTSW 13 93625335 missense probably damaging 0.98
R2012:Bhmt UTSW 13 93625392 missense probably damaging 1.00
R2065:Bhmt UTSW 13 93617612 missense probably benign 0.01
R2283:Bhmt UTSW 13 93620301 missense probably damaging 1.00
R3429:Bhmt UTSW 13 93627347 missense probably damaging 1.00
R3430:Bhmt UTSW 13 93627347 missense probably damaging 1.00
R4166:Bhmt UTSW 13 93625499 splice site probably benign
R4729:Bhmt UTSW 13 93627363 missense probably damaging 0.97
R5135:Bhmt UTSW 13 93627323 missense probably damaging 0.99
R5277:Bhmt UTSW 13 93624885 missense possibly damaging 0.64
R7233:Bhmt UTSW 13 93621517 nonsense probably null
Posted On2014-01-21