Cep135 - SNV Details



 Human Rare Diseases 
Autosomal recessive primary microcephaly

 Gene Information 
Gene Name Cep135
Old Gene Names for Cep135 Bc062951 , Gm1044 , Cep4
Gene Description centrosomal protein 135 [Source:MGI Symbol;Acc:MGI:2681869]
Uniprot Name
CCDS Name
Gene GO
centriole-centriole cohesion; protein C-terminus binding; centriole replication; centriole; centrosome
Homolog in other species CEP135
Omim http://omim.org/entry/611423
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
LOW
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000036403
Chromosome 5
Coordinate 76,631,471     (Assembly: GRCm38)    
Ref Base C
Codon Change aCa/aTa
Var Base T
Zygosity Heterozygous
Read Depth 35
Allele Frequency
C:R0.54
T:V0.46
Amino Acid Position 776
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL02394
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0.07
Polyphen Prediction Benign
Sift Score 0.04
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved