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; cell division; DNA damage checkpoint; mitosis; protein binding; spindle pole; biological_process; signal transduction in response to DNA damage; centrosome; molecular_function
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 102,590,458     (Assembly: GRCm38)    
Ref Base G
Codon Change Caa/Aaa
Var Base T
Zygosity Heterozygous
Read Depth 27
Allele Frequency
G:R0.33
T:V0.67
Amino Acid Position 570
Amino Acid Change Q->K (Glutamine -> Lysine)
Sample ID IGL01598
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Sift Score 0.05
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved