Incidental Mutation 'R5277:Bhmt'
Institutional Source Beutler Lab
Gene Symbol Bhmt
Ensembl Gene ENSMUSG00000074768
Gene Namebetaine-homocysteine methyltransferase
MMRRC Submission 042864-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5277 (G1)
Quality Score225
Status Validated
Chromosomal Location93616675-93637961 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93624885 bp
Amino Acid Change Methionine to Lysine at position 185 (M185K)
Ref Sequence ENSEMBL: ENSMUSP00000096912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099309]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099309
AA Change: M185K

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096912
Gene: ENSMUSG00000074768
AA Change: M185K

Pfam:S-methyl_trans 23 314 5e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143025
Meta Mutation Damage Score 0.5352 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (52/53)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 T C 2: 22,994,648 T54A probably damaging Het
Ablim1 T C 19: 57,155,261 R89G probably damaging Het
Bco1 T A 8: 117,117,389 probably null Het
Camk2d T C 3: 126,684,741 probably benign Het
Dcaf6 A G 1: 165,424,346 S70P probably benign Het
Dclre1a C T 19: 56,544,732 V477I possibly damaging Het
Dnah10 C T 5: 124,828,137 P4021L probably damaging Het
Dusp10 A G 1: 184,037,007 N57D possibly damaging Het
Fam13b G A 18: 34,462,190 R374C probably benign Het
Fyb2 G A 4: 105,015,679 D686N probably damaging Het
Glra3 G A 8: 55,991,207 M67I possibly damaging Het
Gm14325 G A 2: 177,832,984 H102Y possibly damaging Het
Gm6180 A G 8: 42,247,140 noncoding transcript Het
Grin2c A G 11: 115,253,813 V629A probably damaging Het
Kif4-ps A T 12: 101,145,927 noncoding transcript Het
Mc3r T C 2: 172,249,787 F310L probably damaging Het
Myh4 A G 11: 67,252,354 D1036G probably damaging Het
Myh6 A G 14: 54,956,562 I790T probably benign Het
Myo15 C A 11: 60,477,114 Y233* probably null Het
Nckap5 A T 1: 126,026,540 C758* probably null Het
Neurog3 T A 10: 62,133,853 Y36N probably damaging Het
Nlrp4e T C 7: 23,321,438 L450P probably benign Het
Olfr607 A T 7: 103,460,941 L84H probably damaging Het
Otog A G 7: 46,246,621 E170G possibly damaging Het
Ppp2r2b G T 18: 42,741,142 T41K probably damaging Het
Prmt5 A T 14: 54,509,942 D459E probably benign Het
Ric8b G A 10: 84,947,652 V125M probably damaging Het
Rptor A G 11: 119,822,956 S4G probably damaging Het
Rslcan18 T G 13: 67,098,434 E371D probably benign Het
Scaf11 A T 15: 96,419,226 F819Y probably damaging Het
Sema6a A T 18: 47,276,544 probably benign Het
Snx29 C T 16: 11,399,824 T163I possibly damaging Het
Sphkap T C 1: 83,276,164 N1288S probably benign Het
Tmbim7 G A 5: 3,673,192 probably null Het
Tmem63c T A 12: 87,057,757 probably null Het
Tmem69 A G 4: 116,553,261 F171L probably benign Het
Urod A T 4: 116,990,285 probably benign Het
Vmn1r37 A T 6: 66,731,476 I29L probably benign Het
Vmn2r102 A G 17: 19,694,131 T653A possibly damaging Het
Vmn2r75 A C 7: 86,166,292 S121R probably benign Het
Vwde T C 6: 13,186,996 T831A probably benign Het
Wdr70 C T 15: 7,976,984 W362* probably null Het
Zfat A G 15: 68,165,909 C906R probably damaging Het
Zfp7 T C 15: 76,881,203 V32A probably damaging Het
Other mutations in Bhmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Bhmt APN 13 93625409 missense probably damaging 1.00
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
R7233:Bhmt UTSW 13 93621517 nonsense probably null
R7553:Bhmt UTSW 13 93620081 critical splice donor site probably null
R7828:Bhmt UTSW 13 93617648 missense possibly damaging 0.55
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-07-22