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
CCDS 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
Omim http://omim.org/entry/147558
Immgen Expression
LOW(HIGH IN DC.LC.SK)
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
C:R0.42
A:V0.58
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

 Predictions 
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