Cep350 - SNV Details



 Gene Information 
Gene Name Cep350
Old Gene Names for Cep350 4933409l06rik , 6430546f08rik
Gene Description centrosomal protein 350 [Source:MGI Symbol;Acc:MGI:1921331]
Uniprot Name
CCDS Name
Gene GO
biological_process
centrosome
cytoplasm
molecular_function
nucleus
Homolog in other species CEP350
Immgen Expression
HIGH
HIGH
Gnf Expression
MEDIAN
MEDIAN(HIGH IN TESTIS)
MEDIAN(HIGHER IN TESTIS)
HIGH(HIGHER IN IMM GROUPS, OESTEO GROUP, EPITH GROUP, BLADDER, UTERUS, OVARY, LUNG, TRACHEA AND ADIPOSETISSUE, PROSTATE, UMBLICALCORD)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033671
Chromosome 1
Coordinate 155,953,391     (Assembly: GRCm38)    
Ref Base A
Codon Change Tcc/Acc
Var Base T
Zygosity Heterozygous
Read Depth 92
Allele Frequency
A:0.51
T:0.49
Amino Acid Position 256
Amino Acid Change S->T (Serine -> Threonine)
Sample ID IGL00837
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0.9
Polyphen Prediction Possibly damaging
Sift Score 0.19
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved