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 59,042,117     (Assembly: GRCm38)    
Ref Base T
Codon Change gAc/gGc
Var Base C
Zygosity Heterozygous
Read Depth 63
Allele Frequency
T:R0.54
C:V0.46
Amino Acid Position 4811
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL01543
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Sift Score 1
Sift Prediction tolerated
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
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000038264 Smart 4749
4831 Description available Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000038264 Pfam 4750
4832 Description available Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000038264 Superfamily 4733
4860 Description available Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000038264 Prosite_profiles 4749
4840 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved