Usp34 - SNV Details



 Gene Information 
Gene Name Usp34
Old Gene Names for Usp34 A530081c03rik , Murr2
Gene Description ubiquitin specific peptidase 34 [Source:MGI Symbol;Acc:MGI:109473]
Uniprot Name
CCDS Name
Gene GO
Wnt receptor signaling pathway; ubiquitin thiolesterase activity; positive regulation of canonical Wnt receptor signaling pathway; ubiquitin-dependent protein catabolic process; protein binding; binding; protein K48-linked deubiquitination; cysteine-type endopeptidase activity; cellular_component; cysteine-type peptidase activity; ubiquitin-specific protease activity
Homolog in other species USP34
Gnf Expression
MEDIAN
HIGH
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000056342
Chromosome 11
Coordinate 23,452,661     (Assembly: GRCm38)    
Ref Base G
Codon Change Gaa/Aaa
Var Base A
Zygosity Heterozygous
Read Depth 80
Allele Frequency
G:R0.41
A:V0.59
Amino Acid Position 2485
Amino Acid Change E->K (Glutamic acid -> Lysine)
Sample ID IGL01977
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Polyphen Score 0.81
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000137430:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Armadillo-type fold ARM-type_fold IPR016024 ENSMUSP00000137430 Superfamily 1842
3113 Description available Search pathways

 Availability Details 
Availability Cryopreserved