Cep70 - SNV Details



 Gene Information 
Gene Name Cep70
Old Gene Names for Cep70 C030018l16rik , 6720484e09rik
Gene Description centrosomal protein 70 [Source:MGI Symbol;Acc:MGI:1915371]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; protein binding; nucleus; biological_process; centrosome; nuclear membrane; molecular_function
Homolog in other species CEP70
Omim http://omim.org/entry/614310
Immgen Expression
MEDIAN/HIGH(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
MEDIAN(HIGH IN TESTIS)
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000056267
Chromosome 9
Coordinate 99,298,504     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 25
Allele Frequency
A:R0.60
T:V0.40
Amino Acid Change I->F (Isoleucine -> Phenylalanine)
Sample ID IGL02969
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.82
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved