Cenpe - SNV Details



 Gene Information 
Gene Name Cenpe
Old Gene Names for Cenpe Bc049989 , Kif10 , Au019344
Gene Description centromere protein E [Source:MGI Symbol;Acc:MGI:1098230]
MGI phenotype Mice homozygous for a knock-out allele display early embryonic lethality. Mutant embryos grown in culture exhibit inner cell mass growth defects and mitotic chromosome misalignment.
Uniprot Name
CCDS Name
Gene GO
centromeric region
ATP binding
attachment of spindle microtubules to kinetochore
chromosome
condensed chromosome
cytosol
kinetochore
kinetochore binding
microtubule
microtubule motor activity
microtubule-based movement
Homolog in other species CENPE
Omim http://omim.org/entry/117143
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, TGD.VG5+.ACT.IEL, NK.MCMV1.SP, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, T.4SP24-.TH, T.8SP24-.TH, DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000045328
Chromosome 3
Coordinate 135,228,917     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 18
Allele Frequency
T:0.61
A:0.39
Amino Acid Change Disrupted splicing
Sample ID IGL00799
Median Base Quality 38.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 20 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved