Itih3 - SNV Details



 Gene Information 
Gene Name Itih3
Old Gene Names for Itih3 Intin3 , Itih-3 , Aw108094
Gene Description inter-alpha trypsin inhibitor, heavy chain 3 [Source:MGI Symbol;Acc:MGI:96620]
Uniprot Name
CCDS Name
Gene GO
hyaluronan metabolic process; serine-type endopeptidase inhibitor activity; protein binding; extracellular region
Homolog in other species ITIH3
Omim http://omim.org/entry/146650
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000006522
Chromosome 14
Coordinate 30,909,781     (Assembly: GRCm38)    
Ref Base T
Codon Change aAa/aTa
Var Base A
Zygosity Heterozygous
Read Depth 38
Allele Frequency
T:R0.50
A:V0.50
Amino Acid Position 783
Amino Acid Change K->I (Lysine -> Isoleucine)
Sample ID IGL01092
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved