Obscn - SNV Details



 Gene Information 
Gene Name Obscn
Old Gene Names for Obscn Bc046431 , Ottmusg00000005786 , Gm878
Gene Description obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Source:MGI Symbol;Acc:MGI:2681862]
Uniprot Name
CCDS Name
Gene GO
cell differentiation; protein kinase activity; intracellular; transferase activity
transferring phosphorus-containing groups; Rho guanyl-nucleotide exchange factor activity; protein binding; calmodulin binding; regulation of Rho protein signal transduction; protein phosphorylation; protein tyrosine kinase activity; ATP binding; M band; phospholipid binding; multicellular organismal development; protein serine/threonine kinase activity
Homolog in other species OBSCN
Immgen Expression
MEDIAN(HIGH IN DC GROUP)
MEDIAN(HIGH IN DC GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000061462
Chromosome 11
Coordinate 59,008,595     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 18
Allele Frequency
C:R0.61
A:V0.39
Amino Acid Change E->Stop (Glutamic acid -> Stop)
Sample ID IGL01911
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Prediction N/A
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved