Bglap - SNV Details



 Gene Information 
Gene Name Bglap
Old Gene Names for Bglap Bglap1
Gene Description bone gamma carboxyglutamate protein [Source:MGI Symbol;Acc:MGI:88156]
MGI phenotype Mice homozygous for a knock-out allele of both Bglap1 and Bglap2 exhibit decreased circulating insulin, impaired glucose tolerance, increased adipose tissue, increased bone density, and decreased male fertility.
Uniprot Name
CCDS Name
Gene GO
cytoplasm; biomineral tissue development; regulation of bone mineralization; extracellular region; calcium ion binding
Homolog in other species BGLAP
Omim http://omim.org/entry/112260
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000074483
Chromosome 3
Coordinate 88,384,005     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 23
Allele Frequency
T:R0.65
C:V0.35
Amino Acid Change K->E (Lysine -> Glutamic acid)
Sample ID IGL03394
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved