Has3 - SNV Details



 Gene Information 
Gene Name Has3
Gene Description hyaluronan synthase 3 [Source:MGI Symbol;Acc:MGI:109599]
MGI phenotype Mice homozygous for a null allele are viable and fertile with normal static and dynamic compliances and display a reduced high tidal volume ventilation-induced inflammatory response.
Uniprot Name
CCDS Name
Gene GO
positive regulation of transcription
DNA-templated; hyaluronan synthase activity; hyaluranon cable; positive regulation of hyaluranon cable assembly; integral component of membrane; extracellular matrix assembly; hyaluronan biosynthetic process; extracellular polysaccharide biosynthetic process
Homolog in other species HAS3
Omim http://omim.org/entry/602428
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP AND DC.LC.SK)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031910
Chromosome 8
Coordinate 106,878,610     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 96
Allele Frequency
A:R0.54
T:V0.46
Amino Acid Change I->F (Isoleucine -> Phenylalanine)
Sample ID IGL03026
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.49
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved