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 59,036,093     (Assembly: GRCm38)    
Ref Base G
Codon Change aCg/aTg
Var Base A
Zygosity Heterozygous
Read Depth 11
Allele Frequency
G:R0.64
A:V0.36
Amino Acid Position 5532
Amino Acid Change T->M (Threonine -> Methionine)
Sample ID IGL01083
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Sift Score 0.02
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 5496
5580 Description available Search pathways
Immunoglobulin-like domain Ig-like_dom IPR007110 ENSMUSP00000038264 Prosite_profiles 5489
5578 Description available Search pathways
Immunoglobulin subtype 2 Ig_sub2 IPR003598 ENSMUSP00000038264 Smart 5504
5569 Description available Search pathways
Immunoglobulin I-set Ig_I-set IPR013098 ENSMUSP00000038264 Pfam 5489
5579 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved