Col6a5 - SNV Details



 Gene Information 
Gene Name Col6a5
Old Gene Names for Col6a5 Gm7455 , Eg665033
Gene Description collagen, type VI, alpha 5 [Source:MGI Symbol;Acc:MGI:3648134]
Uniprot Name
CCDS Name
Gene GO
protein binding; extracellular region; molecular_function
Homolog in other species COL6A5
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000091345
Chromosome 9
Coordinate 105,928,290     (Assembly: GRCm38)    
Ref Base A
Codon Change gTc/gAc
Var Base T
Zygosity Heterozygous
Read Depth 31
Allele Frequency
A:R0.58
T:V0.42
Amino Acid Position 1139
Amino Acid Change V->D (Valine -> Aspartic acid)
Sample ID IGL01945
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved