Cog8 - SNV Details



 Human Rare Diseases 
COG8-CDG syndrome

 Gene Information 
Gene Name Cog8
Old Gene Names for Cog8 Bb235941 , C87832
Gene Description component of oligomeric golgi complex 8 [Source:MGI Symbol;Acc:MGI:2142885]
Uniprot Name
CCDS Name
Gene GO
Golgi membrane; protein transport; Golgi transport complex; biological_process; molecular_function
Homolog in other species COG8
Omim http://omim.org/entry/606979
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
HIGH
Gnf Expression
HIGH(LOWER IN FERTILIZEDEGG, OOCYTE, MACROPHAGE_7HRLPS, SPLEEN, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031916
Chromosome 8
Coordinate 107,054,065     (Assembly: GRCm38)    
Ref Base A
Codon Change gTa/gCa
Var Base G
Zygosity Heterozygous
Read Depth 23
Allele Frequency
A:R0.57
G:V0.44
Amino Acid Position 187
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL01721
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.2
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000093173:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Cullin repeat-like-containing domain Cullin_repeat-like_dom IPR016159 ENSMUSP00000093173 Superfamily 150
385 Description available Search pathways
Conserved oligomeric Golgi complex subunit 8 COG8 IPR007255 ENSMUSP00000093173 Pfam 56
394 Description available Search pathways
Conserved oligomeric Golgi complex subunit 8, Metazoal and Viridiplantae COG8_Metazoal_Plant IPR016632 ENSMUSP00000093173 PIRSF 16
629 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved