Itgb6 - SNV Details

 Gene Information 
Gene Name Itgb6
Old Gene Names for Itgb6 4831415h04rik , 2210409c20rik
Gene Description integrin beta 6 [Source:MGI Symbol;Acc:MGI:96615]
MGI phenotype Homozygotes for a targeted null mutation exhibit baldness associated with macrophage infiltration of skin, exaggerated pulmonary inflammation, and an impaired mucosal mast cell response to nematode infection.
Uniprot Name
Gene GO
integrin binding; membrane; receptor activity; cell adhesion; inflammatory response; integrin complex; cell-matrix adhesion; integrin-mediated signaling pathway; receptor binding; multicellular organismal development
Homolog in other species ITGB6
Immgen Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026971
Chromosome 2
Coordinate 60,628,066     (Assembly: GRCm38)    
Ref Base C
Codon Change Gtc/Ttc
Var Base A
Zygosity Heterozygous
Read Depth 24
Allele Frequency
Amino Acid Position 448
Amino Acid Change V->F (Valine -> Phenylalanine)
Sample ID IGL02026
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

Polyphen Score 0.81
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved