Capzb - SNV Details



 Gene Information 
Gene Name Capzb
Old Gene Names for Capzb Ai325129 , Cappb1 , 1700120c01rik
Gene Description capping protein (actin filament) muscle Z-line, beta [Source:MGI Symbol;Acc:MGI:104652]
Uniprot Name
CCDS Name
Gene GO
F-actin capping protein complex
actin binding
actin cytoskeleton organization
cell projection organization
cortical cytoskeleton
cytoplasm
lamellipodium
lamellipodium assembly
membrane
Homolog in other species CAPZB
Omim http://omim.org/entry/601572
Immgen Expression
HIGH
Gnf Expression
MEDIAN(HIGHER IN TESTIS)
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028745
Chromosome 4
Coordinate 139,287,050     (Assembly: GRCm38)    
Ref Base A
Codon Change Agt/Ggt
Var Base G
Zygosity Heterozygous
Read Depth 46
Allele Frequency
A:0.59
G:0.41
Amino Acid Position 204
Amino Acid Change S->G (Serine -> Glycine)
Sample ID IGL00885
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.44
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved