Col12a1 - SNV Details



 Gene Information 
Gene Name Col12a1
Old Gene Names for Col12a1 Aw743884
Gene Description collagen, type XII, alpha 1 [Source:MGI Symbol;Acc:MGI:88448]
Uniprot Name
CCDS Name
Gene GO
extracellular matrix; cell adhesion; proteinaceous extracellular matrix; collagen trimer; protein binding; extracellular vesicular exosome; extracellular space
Homolog in other species COL12A1
Omim http://omim.org/entry/120320
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032332
Chromosome 9
Coordinate 79,681,437     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 34
Allele Frequency
T:R0.47
C:V0.53
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL03115
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved