Itgb4 - SNV Details



 Human Rare Diseases 
Epidermolysis bullosa simplex with pyloric atresia
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa - pyloric atresia
Localized junctional epidermolysis bullosa, non-Herlitz type

 Gene Information 
Gene Name Itgb4
Old Gene Names for Itgb4 Aa407042
Gene Description integrin beta 4 [Source:MGI Symbol;Acc:MGI:96613]
MGI phenotype Homozygotes for targeted null mutations die shortly after birth with extensive detachment of the epidermis and other squamus epithelia. Stratified tissues lack hemidesmosomes and simple epithelia are also defective in adherence.
Uniprot Name
CCDS Name
Gene GO
basement membrane; membrane; integral to membrane; receptor activity; cell leading edge; filopodium assembly; cell adhesion; cell communication; hemidesmosome; cell motility; protein binding; cell surface; response to wounding; hemidesmosome assembly; integrin complex; cell-matrix adhesion; basal plasma membrane; plasma membrane; integrin-mediated signaling pathway; receptor binding; multicellular organismal development
Homolog in other species ITGB4
Omim http://omim.org/entry/147557
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(HIGHER IN DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020758
Chromosome 11
Coordinate 115,988,926     (Assembly: GRCm38)    
Ref Base G
Codon Change Gta/Ata
Var Base A
Zygosity Heterozygous
Read Depth 20
Allele Frequency
G:R0.50
A:V0.50
Amino Acid Position 635
Amino Acid Change V->I (Valine -> Isoleucine)
Sample ID IGL01756
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 22 Other Mutations

 Predictions 
Polyphen Score 0.9
Polyphen Prediction Possibly damaging
Sift Score 0.09
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000021107:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Integrin beta-4 subunit Integrin_bsu-4 IPR012013 ENSMUSP00000021107 PIRSF 1
1802 Description available Search pathways

 Availability Details 
Availability Cryopreserved