Cep89 - SNV Details



 Gene Information 
Gene Name Cep89
Old Gene Names for Cep89 Ccdc123 , 2610507l03rik
Gene Description centrosomal protein 89 [Source:MGI Symbol;Acc:MGI:1919390]
Uniprot Name
CCDS Name
Gene GO
ciliary transition fiber; cytoplasm; cilium assembly; centriole; protein binding; cytosol; mitochondrial intermembrane space; spindle pole; plasma membrane; centrosome
Homolog in other species CEP89
Omim http://omim.org/entry/615470
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000023072
Chromosome 7
Coordinate 35,429,178     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 26
Allele Frequency
T:R0.50
A:V0.50
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL03396
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved