Hapln3 - SNV Details



 Gene Information 
Gene Name Hapln3
Old Gene Names for Hapln3 4930554n11rik
Gene Description hyaluronan and proteoglycan link protein 3 [Source:MGI Symbol;Acc:MGI:1914916]
Uniprot Name
CCDS Name
Gene GO
cell adhesion; proteinaceous extracellular matrix; hyaluronic acid binding; protein binding; cellular_component; biological_process
Homolog in other species HAPLN3
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030606
Chromosome 7
Coordinate 79,118,145     (Assembly: GRCm38)    
Ref Base A
Codon Change gTt/gCt
Var Base G
Zygosity Heterozygous
Read Depth 60
Allele Frequency
A:R0.57
G:V0.43
Amino Acid Position 167
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02141
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved