Josd2 - SNV Details



 Gene Information 
Gene Name Josd2
Old Gene Names for Josd2 1110007c05rik
Gene Description Josephin domain containing 2 [Source:MGI Symbol;Acc:MGI:1913374]
Uniprot Name
CCDS Name
Gene GO
cytosol; cellular_component; ubiquitin-specific protease activity; proteolysis; protein deubiquitination; omega peptidase activity
Homolog in other species JOSD2
Omim http://omim.org/entry/615324
Immgen Expression
MEDIAN
Gnf Expression
HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, LIVER, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000038695
Chromosome 7
Coordinate 44,471,316     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 80
Allele Frequency
T:R0.56
C:V0.44
Amino Acid Change Disrupted splicing
Splice Position 9
Sample ID IGL00164
Median Base Quality 36
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved