Col6a3 - SNV Details



 Gene Information 
Gene Name Col6a3
Old Gene Names for Col6a3 Ai507288 , Col6a-3
Gene Description collagen, type VI, alpha 3 [Source:MGI Symbol;Acc:MGI:88461]
Uniprot Name
CCDS Name
Gene GO
extracellular matrix; sarcolemma; response to glucose; serine-type endopeptidase inhibitor activity; protein binding; extracellular vesicular exosome; extracellular space; negative regulation of endopeptidase activity
Homolog in other species COL6A3
Omim http://omim.org/entry/120250
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
HIGH(HIGHER IN IMM GROUPS, OESTEO GROUP, EPITH GROUP, BLADDER, UTERUS, OVARY, LUNG, TRACHEA AND ADIPOSETISSUE, PROSTATE, UMBLICALCORD)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000048126
Chromosome 1
Coordinate 90,803,878     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 57
Allele Frequency
T:R0.47
A:V0.51
Amino Acid Change D->V (Aspartic acid -> Valine)
Sample ID IGL02821
Median Base Quality 38
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved , Line Propagating , Cryopreserved