Bmp10 - SNV Details



 Gene Information 
Gene Name Bmp10
Gene Description bone morphogenetic protein 10 [Source:MGI Symbol;Acc:MGI:1338820]
MGI phenotype Homozygous null mice display embryonic lethality with cardiac dysgenesis.
Uniprot Name
CCDS Name
Gene GO
negative regulation of cell migration; heart trabecula formation; positive regulation of cardiac muscle cell proliferation; negative regulation of endothelial cell migration; positive regulation of sarcomere organization; cytoplasm; BMP signaling pathway; sarcomere organization; atrial cardiac muscle tissue morphogenesis; positive regulation of cardiac muscle hypertrophy; adult heart development; pathway-restricted SMAD protein phosphorylation; regulation of cardiac muscle contraction; hormone activity; positive regulation of cell proliferation involved in heart morphogenesis; growth; negative regulation of cardiac muscle hypertrophy; activin receptor signaling pathway; protein binding; cell surface; ventricular cardiac muscle tissue morphogenesis; positive regulation of transcription
DNA-dependent; cytokine activity; Z disc; negative regulation of cell growth; positive regulation of pathway-restricted SMAD protein phosphorylation; cardiac muscle cell proliferation; growth factor activity; heart development; receptor serine/threonine kinase binding; extracellular space; ventricular cardiac muscle cell development; positive regulation of gene expression
Homolog in other species BMP10
Immgen Expression
LOW
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030046
Chromosome 6
Coordinate 87,434,148     (Assembly: GRCm38)    
Ref Base T
Codon Change Tcc/Ccc
Var Base C
Zygosity Heterozygous
Read Depth 42
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Position 308
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02132
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.42
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved