Cep63 - SNV Details



 Human Rare Diseases 
Autosomal recessive primary microcephaly

 Gene Information 
Gene Name Cep63
Old Gene Names for Cep63 Al450317.13gm1 , D9mgc41 , Aw107703 , D9mgc48e
Gene Description centrosomal protein 63 [Source:MGI Symbol;Acc:MGI:2158560]
Uniprot Name
CCDS Name
Gene GO
spindle assembly; mitotic nuclear division; DNA damage checkpoint; centriole replication; centriole; protein binding; spindle pole; signal transduction in response to DNA damage; centrosome
Homolog in other species CEP63
Omim http://omim.org/entry/614724
Immgen Expression
MEDIAN
MEDIAN(HIGHER IN BCELL GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032534
Chromosome 9
Coordinate 102,602,467     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 34
Allele Frequency
T:R0.56
C:V0.44
Amino Acid Change K->E (Lysine -> Glutamic acid)
Sample ID IGL03273
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0.11
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved