Clic5 - SNV Details



 Gene Information 
Gene Name Clic5
Old Gene Names for Clic5 5730531e12rik
Gene Description chloride intracellular channel 5 [Source:MGI Symbol;Acc:MGI:1917912]
MGI phenotype Mice homozygous for a spontaneous mutation exhibit head bobbing and circling behavior, inability to swim, and complete deafness by 7-8 months of age caused by dysmorphic stereocilia and progressive hair cell degeneration.
Uniprot Name
CCDS Name
Gene GO
membrane; chloride channel complex; response to dietary excess; protein binding; neuromuscular process controlling balance; chloride transport; diet induced thermogenesis; sensory perception of sound; chloride channel activity; protein localization; microtubule organizing center; actin cytoskeleton; stereocilium bundle; auditory receptor cell stereocilium organization; voltage-gated chloride channel activity; Golgi apparatus; stereocilium
Homolog in other species CLIC5
Omim http://omim.org/entry/607293
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000023959
Chromosome 17
Coordinate 44,248,746     (Assembly: GRCm38)    
Ref Base G
Codon Change cGg/cTg
Var Base T
Zygosity Heterozygous
Read Depth 58
Allele Frequency
G:R0.60
T:V0.40
Amino Acid Position 109
Amino Acid Change R->L (Arginine -> Leucine)
Sample ID IGL01606
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.07
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000024755:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Glutathione S-transferase, C-terminal-like Glutathione-S-Trfase_C-like IPR010987 ENSMUSP00000024755 Superfamily 100
248 Description available Search pathways
Intracellular chloride channel Int_Cl_channel IPR002946 ENSMUSP00000024755 TIGRfam 14
249 Description available Search pathways

 Availability Details 
Availability Cryopreserved