Dsc1 - SNV Details



 Gene Information 
Gene Name Dsc1
Gene Description desmocollin 1 [Source:MGI Symbol;Acc:MGI:109173]
MGI phenotype Mutants with targeted disruptions of this gene have fragile epidermis, flaky skin, and defects in the epidermal barrier, leading to chronic dermatitis and display abnormal epidermal differentiation as indicated by hyperproliferation and overxpression of keratin 6 and 16.
Uniprot Name
CCDS Name
Gene GO
membrane; homophilic cell adhesion; protein binding; desmosome; plasma membrane; calcium ion binding
Homolog in other species DSC1
Omim http://omim.org/entry/125643
Immgen Expression
LOW
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
LOW(HIGH IN RETINA, UMBLICALCORD. EPIDERMIS TISSUES, TRACHEA)
LOW(HIGH IN RETINA, UMBLICALCORD. EPIDERMIS TISSUES, TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000044322
Chromosome 18
Coordinate 20,108,803     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 17
Allele Frequency
A:R0.47
G:V0.53
Amino Acid Change Disrupted splicing
Splice Position 9
Sample ID IGL02066
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 60 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved