Klhl20 - SNV Details



 Gene Information 
Gene Name Klhl20
Old Gene Names for Klhl20 Ai504637 , D930050h05rik
Gene Description kelch-like 20 (Drosophila) [Source:MGI Symbol;Acc:MGI:2444855]
Uniprot Name
CCDS Name
Gene GO
Cul3-RING ubiquitin ligase complex
Golgi apparatus
PML body
actin binding
cell surface
cytoplasm
cytoplasmic part
interferon-gamma binding
negative regulation of apoptosis
nucleus
perinuclear region of cytoplasm
Homolog in other species KLHL20
Immgen Expression
HIGH(LOWER IN DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026705
Chromosome 1
Coordinate 161,090,506     (Assembly: GRCm38)    
Ref Base T
Codon Change tAc/tGc
Var Base C
Zygosity Heterozygous
Read Depth 74
Allele Frequency
T:0.38
C:0.62
Amino Acid Position 579
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL00903
Median Base Quality 41
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.21
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000107238:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Kelch repeat type 1 Kelch_1 IPR006652 ENSMUSP00000107238 Smart 550
596 Description available Search pathways

 Availability Details 
Availability