Cblc - SNV Details



 Gene Information 
Gene Name Cblc
Old Gene Names for Cblc 2310079l19rik , 2310076i21rik
Gene Description Casitas B-lineage lymphoma c [Source:MGI Symbol;Acc:MGI:1931457]
MGI phenotype Homozygous null mice are viable, fertile, and show no abnormalities of the epithelium or other tissues.
Uniprot Name
CCDS Name
Gene GO
negative regulation of MAP kinase activity; SH3 domain binding; negative regulation of epidermal growth factor-activated receptor activity; ubiquitin ligase complex; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; zinc ion binding; regulation of signaling; ubiquitin-protein ligase activity; ubiquitin-dependent protein catabolic process; protein binding; protein ubiquitination; phosphotyrosine binding; nucleus; cell surface receptor signaling pathway; signal transducer activity; negative regulation of epidermal growth factor receptor signaling pathway; calcium ion binding; epidermal growth factor receptor binding
Homolog in other species CBLC
Omim http://omim.org/entry/608453
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040525
Chromosome 7
Coordinate 19,785,275     (Assembly: GRCm38)    
Ref Base T
Codon Change aAc/aGc
Var Base C
Zygosity Heterozygous
Read Depth 61
Allele Frequency
T:R0.56
C:V0.44
Amino Acid Position 420
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL01510
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved