Col28a1 - SNV Details



 Gene Information 
Gene Name Col28a1
Old Gene Names for Col28a1 Gm466
Gene Description collagen, type XXVIII, alpha 1 [Source:MGI Symbol;Acc:MGI:2685312]
Uniprot Name
CCDS Name
Gene GO
basement membrane; cell adhesion; serine-type endopeptidase inhibitor activity; protein binding; collagen; biological_process; molecular_function
Homolog in other species COL28A1
Omim http://omim.org/entry/609996
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000068794
Chromosome 6
Coordinate 8,014,819     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 46
Allele Frequency
T:R0.46
C:V0.54
Amino Acid Change K->R (Lysine -> Arginine)
Sample ID IGL02567
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved