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 59,128,069     (Assembly: GRCm38)    
Ref Base C
Codon Change Gtg/Atg
Var Base T
Zygosity Heterozygous
Read Depth 52
Allele Frequency
C:R0.48
T:V0.52
Amino Acid Position 948
Amino Acid Change V->M (Valine -> Methionine)
Sample ID IGL01018
Median Base Quality 35
Backgrounds Balb/C,C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000038264:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Immunoglobulin subtype Ig_sub IPR003599 ENSMUSP00000038264 Smart 870
949 Description available Search pathways

 Availability Details 
Availability Cryopreserved