Vcan - SNV Details



 Human Rare Diseases 
Wagner disease

 Gene Information 
Gene Name Vcan
Old Gene Names for Vcan 5430420n07rik , Cspg2
Gene Description versican [Source:MGI Symbol;Acc:MGI:102889]
MGI phenotype Homozygotes for an insertional mutation exhibit anterior-posterior segmental defects of the heart, lack endocardial cushions of the conus and atrioventricular region, and die and around embryonic day 10.5.
Uniprot Name
CCDS Name
Gene GO
membrane; extracellular matrix; cell adhesion; proteinaceous extracellular matrix; hyaluronic acid binding; glial cell migration; intracellular membrane-bounded organelle; protein binding; carbohydrate binding; extracellular region; heart development; calcium ion binding; extracellular space; osteoblast differentiation
Homolog in other species VCAN
Omim http://omim.org/entry/118661
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021614
Chromosome 13
Coordinate 89,688,623     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 19
Allele Frequency
G:R0.37
T:V0.63
Amino Acid Change T->K (Threonine -> Lysine)
Sample ID IGL02926
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved