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
protein kinase activity; peptidyl-tyrosine phosphorylation; transferase activity
transferring phosphorus-containing groups; Rho guanyl-nucleotide exchange factor activity; protein binding; regulation of Rho protein signal transduction; protein phosphorylation; protein tyrosine kinase activity; ATP binding; regulation of Rho GTPase activity; 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 59,000,124     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 21
Allele Frequency
T:R0.52
C:V0.48
Amino Acid Change K->R (Lysine -> Arginine)
Sample ID IGL03405
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved