Incidental Mutation 'R5277:Bhmt'
ID 404016
Institutional Source Beutler Lab
Gene Symbol Bhmt
Ensembl Gene ENSMUSG00000074768
Gene Name betaine-homocysteine methyltransferase
Synonyms
MMRRC Submission 042864-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5277 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 93753399-93774266 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93761393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 185 (M185K)
Ref Sequence ENSEMBL: ENSMUSP00000096912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099309]
AlphaFold no structure available at present
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

DomainStartEndE-ValueType
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: 22,884,660 (GRCm39) T54A probably damaging Het
Ablim1 T C 19: 57,143,693 (GRCm39) R89G probably damaging Het
Bco1 T A 8: 117,844,128 (GRCm39) probably null Het
Camk2d T C 3: 126,478,390 (GRCm39) probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Dcaf6 A G 1: 165,251,915 (GRCm39) S70P probably benign Het
Dclre1a C T 19: 56,533,164 (GRCm39) V477I possibly damaging Het
Dnah10 C T 5: 124,905,201 (GRCm39) P4021L probably damaging Het
Dusp10 A G 1: 183,769,204 (GRCm39) N57D possibly damaging Het
Fam13b G A 18: 34,595,243 (GRCm39) R374C probably benign Het
Fyb2 G A 4: 104,872,876 (GRCm39) D686N probably damaging Het
Glra3 G A 8: 56,444,242 (GRCm39) M67I possibly damaging Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gm6180 A G 8: 42,700,177 (GRCm39) noncoding transcript Het
Grin2c A G 11: 115,144,639 (GRCm39) V629A probably damaging Het
Kif4-ps A T 12: 101,112,186 (GRCm39) noncoding transcript Het
Mc3r T C 2: 172,091,707 (GRCm39) F310L probably damaging Het
Myh4 A G 11: 67,143,180 (GRCm39) D1036G probably damaging Het
Myh6 A G 14: 55,194,019 (GRCm39) I790T probably benign Het
Myo15a C A 11: 60,367,940 (GRCm39) Y233* probably null Het
Nckap5 A T 1: 125,954,277 (GRCm39) C758* probably null Het
Neurog3 T A 10: 61,969,632 (GRCm39) Y36N probably damaging Het
Nlrp4e T C 7: 23,020,863 (GRCm39) L450P probably benign Het
Or52d13 A T 7: 103,110,148 (GRCm39) L84H probably damaging Het
Otog A G 7: 45,896,045 (GRCm39) E170G possibly damaging Het
Ppp2r2b G T 18: 42,874,207 (GRCm39) T41K probably damaging Het
Prmt5 A T 14: 54,747,399 (GRCm39) D459E probably benign Het
Ric8b G A 10: 84,783,516 (GRCm39) V125M probably damaging Het
Rptor A G 11: 119,713,782 (GRCm39) S4G probably damaging Het
Rslcan18 T G 13: 67,246,498 (GRCm39) E371D probably benign Het
Scaf11 A T 15: 96,317,107 (GRCm39) F819Y probably damaging Het
Sema6a A T 18: 47,409,611 (GRCm39) probably benign Het
Snx29 C T 16: 11,217,688 (GRCm39) T163I possibly damaging Het
Sphkap T C 1: 83,253,885 (GRCm39) N1288S probably benign Het
Tmbim7 G A 5: 3,723,192 (GRCm39) probably null Het
Tmem63c T A 12: 87,104,531 (GRCm39) probably null Het
Tmem69 A G 4: 116,410,458 (GRCm39) F171L probably benign Het
Urod A T 4: 116,847,482 (GRCm39) probably benign Het
Vmn1r37 A T 6: 66,708,460 (GRCm39) I29L probably benign Het
Vmn2r102 A G 17: 19,914,393 (GRCm39) T653A possibly damaging Het
Vmn2r75 A C 7: 85,815,500 (GRCm39) S121R probably benign Het
Vwde T C 6: 13,186,995 (GRCm39) T831A probably benign Het
Wdr70 C T 15: 8,006,465 (GRCm39) W362* probably null Het
Zfat A G 15: 68,037,758 (GRCm39) C906R probably damaging Het
Zfp7 T C 15: 76,765,403 (GRCm39) V32A probably damaging Het
Other mutations in Bhmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Bhmt APN 13 93,761,917 (GRCm39) missense probably damaging 1.00
IGL02365:Bhmt APN 13 93,754,146 (GRCm39) missense probably benign
IGL02556:Bhmt APN 13 93,774,008 (GRCm39) utr 5 prime probably benign
R0279:Bhmt UTSW 13 93,761,972 (GRCm39) missense probably damaging 1.00
R1853:Bhmt UTSW 13 93,761,843 (GRCm39) missense probably damaging 0.98
R2012:Bhmt UTSW 13 93,761,900 (GRCm39) missense probably damaging 1.00
R2065:Bhmt UTSW 13 93,754,120 (GRCm39) missense probably benign 0.01
R2283:Bhmt UTSW 13 93,756,809 (GRCm39) missense probably damaging 1.00
R3429:Bhmt UTSW 13 93,763,855 (GRCm39) missense probably damaging 1.00
R3430:Bhmt UTSW 13 93,763,855 (GRCm39) missense probably damaging 1.00
R4166:Bhmt UTSW 13 93,762,007 (GRCm39) splice site probably benign
R4729:Bhmt UTSW 13 93,763,871 (GRCm39) missense probably damaging 0.97
R5135:Bhmt UTSW 13 93,763,831 (GRCm39) missense probably damaging 0.99
R7233:Bhmt UTSW 13 93,758,025 (GRCm39) nonsense probably null
R7553:Bhmt UTSW 13 93,756,589 (GRCm39) critical splice donor site probably null
R7828:Bhmt UTSW 13 93,754,156 (GRCm39) missense possibly damaging 0.55
R8499:Bhmt UTSW 13 93,756,600 (GRCm39) missense probably benign 0.18
R9621:Bhmt UTSW 13 93,758,079 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- ACGTGTGCACACAAATGCC -3'
(R):5'- ACAGCAGCTTTCAAATCGTTTG -3'

Sequencing Primer
(F):5'- GTGTGCACACAAATGCCATACAC -3'
(R):5'- CCTTCTATTCTGGGTCAAAAATGC -3'
Posted On 2016-07-22