Jup - SNV Details



 Human Rare Diseases 
Lethal acantholytic epidermolysis bullosa
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Naxos disease
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form

 Gene Information 
Gene Name Jup
Old Gene Names for Jup Al022715 , Aw545708 , D930025p04rik
Gene Description junction plakoglobin [Source:MGI Symbol;Acc:MGI:96650]
MGI phenotype Homozygous null mutants die with severe heart defects at embryonic day 10.5-16, depending on genetic background. Mutants that survive to birth exhibit skin blistering and subcorneal acantholysis associated with reduced number of desmosomes.
Uniprot Name
CCDS Name
Gene GO
transcription coactivator activity; cytoskeletal anchoring at plasma membrane; positive regulation of sequence-specific DNA binding transcription factor activity; membrane; nervous system development; lateral plasma membrane; cadherin binding; zonula adherens; positive regulation of transcription from RNA polymerase II promoter; cytoplasm; intermediate filament; cell adhesion; apicolateral plasma membrane; protein-DNA complex; negative regulation of Wnt signaling pathway involved in heart development; skin development; regulation of heart rate by cardiac conduction; cell morphogenesis; detection of mechanical stimulus; beta-catenin destruction complex; atrioventricular valve morphogenesis; bundle of His cell to Purkinje myocyte communication; cytoplasmic side of plasma membrane; cell-cell adherens junction; cell-cell junction; protein binding; catenin complex; establishment of protein localization to plasma membrane; single organismal cell-cell adhesion; binding; nucleus; intercalated disc; ventricular cardiac muscle cell action potential; cell migration; positive regulation of protein import into nucleus; regulation of cell proliferation; alpha-catenin binding; cytosol; extracellular vesicular exosome; morphogenesis of embryonic epithelium; desmosome; Z disc; cellular response to indole-3-methanol; protein heterooligomerization; oocyte development; actin cytoskeleton; desmosome assembly; structural molecule activity; ectoderm development; negative regulation of heart induction by canonical Wnt signaling pathway; plasma membrane; protein phosphatase binding; basolateral plasma membrane; protein kinase binding; gamma-catenin-TCF7L2 complex; fascia adherens; gastrulation
Homolog in other species JUP
Omim http://omim.org/entry/173325
Immgen Expression
LOW/MEDIAN(HIGH IN MF.RP.SP)
Gnf Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000001552
Chromosome 11
Coordinate 100,380,692     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 29
Allele Frequency
T:R0.55
C:V0.45
Amino Acid Change Disrupted splicing
Splice Position 4
Sample ID IGL03023
Median Base Quality 32
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 24 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved