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
Gene GO
cytoplasm; biomineral tissue development; regulation of bone mineralization; extracellular region; calcium ion binding
Homolog in other species BGLAP
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
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

Polyphen Score 0
Polyphen Prediction Benign

 Availability Details