Copa - SNV Details



 Gene Information 
Gene Name Copa
Old Gene Names for Copa Au040324
Gene Description coatomer protein complex subunit alpha [Source:MGI Symbol;Acc:MGI:1334462]
Uniprot Name
CCDS Name
Gene GO
COPI vesicle coat
binding
calcium ion binding
endoplasmic reticulum
intracellular protein transport
membrane coat
protein binding
protein folding
structural molecule activity
unfolded protein binding
vesicle-mediated transport
Homolog in other species COPA
Omim http://omim.org/entry/601924
Immgen Expression
HIGH
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026553
Chromosome 1
Coordinate 172,110,688     (Assembly: GRCm38)    
Ref Base T
Codon Change Tgt/Agt
Var Base A
Zygosity Heterozygous
Read Depth 35
Allele Frequency
T:0.37
A:0.63
Amino Acid Position 514
Amino Acid Change C->S (Cysteine -> Serine)
Sample ID IGL00848
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 0.12
Polyphen Prediction Benign
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000118179:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Coatomer, WD associated region Coatomer_WD-assoc_reg IPR006692 ENSMUSP00000118179 Pfam 342
767 Description available Search pathways
Coatomer alpha subunit Coatomer_asu IPR016391 ENSMUSP00000118179 PIRSF 1
1220 Description available Search pathways

 Availability Details 
Availability Cryopreserved