Cep57 - SNV Details



 Human Rare Diseases 
Mosaic variegated aneuploidy syndrome

 Gene Information 
Gene Name Cep57
Old Gene Names for Cep57 3110002l15rik , 4921510p06rik , 4931428m20rik , Ai467480
Gene Description centrosomal protein 57 [Source:MGI Symbol;Acc:MGI:1915551]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; spermatid development; fibroblast growth factor receptor signaling pathway; microtubule; microtubule binding; protein homodimerization activity; protein import into nucleus
translocation; protein binding; nucleus; microtubule cytoskeleton; protein homooligomerization; gamma-tubulin binding; identical protein binding; fibroblast growth factor binding; microtubule anchoring; Golgi apparatus; centrosome
Homolog in other species CEP57
Omim http://omim.org/entry/607951
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
HIGH(HIGHER IN IMM.G1, IMM.G3, AND EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031922
Chromosome 9
Coordinate 13,813,417     (Assembly: GRCm38)    
Ref Base G
Codon Change cCa/cAa
Var Base T
Zygosity Heterozygous
Read Depth 31
Allele Frequency
G:R0.39
T:V0.61
Amino Acid Position 268
Amino Acid Change P->Q (Proline -> Glutamine)
Sample ID IGL01712
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.7
Polyphen Prediction Possibly damaging
Sift Score 0.24
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved