Incidental Mutation 'IGL01606:Clic5'
ID 93418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clic5
Ensembl Gene ENSMUSG00000023959
Gene Name chloride intracellular channel 5
Synonyms 5730531E12Rik, nmf318
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01606
Quality Score
Status
Chromosome 17
Chromosomal Location 44445671-44591059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44559633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 109 (R109L)
Ref Sequence ENSEMBL: ENSMUSP00000024755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024755]
AlphaFold Q8BXK9
Predicted Effect probably benign
Transcript: ENSMUST00000024755
AA Change: R109L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000024755
Gene: ENSMUSG00000023959
AA Change: R109L

DomainStartEndE-ValueType
Pfam:GST_N_3 28 100 2.4e-10 PFAM
Pfam:GST_C_2 90 220 1e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
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. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik A G 17: 15,164,125 (GRCm39) D84G probably damaging Het
Adat3 A T 10: 80,443,172 (GRCm39) I337F probably damaging Het
Carmil3 T A 14: 55,731,306 (GRCm39) N128K possibly damaging Het
Ceacam2 T C 7: 25,230,132 (GRCm39) E158G possibly damaging Het
Cel T C 2: 28,450,576 (GRCm39) I150V probably benign Het
Chd5 A G 4: 152,445,432 (GRCm39) H441R probably damaging Het
Cpd T C 11: 76,703,466 (GRCm39) M466V probably benign Het
Cyp39a1 T A 17: 44,057,509 (GRCm39) probably benign Het
Dnah11 C A 12: 117,946,767 (GRCm39) A3106S probably benign Het
Fasn A C 11: 120,699,849 (GRCm39) probably null Het
Fat1 G A 8: 45,476,086 (GRCm39) V1688I probably benign Het
Fibcd1 A G 2: 31,723,865 (GRCm39) I258T probably benign Het
Frem2 C A 3: 53,561,012 (GRCm39) R1165I possibly damaging Het
Gm5627 C T 9: 102,626,685 (GRCm39) noncoding transcript Het
Gm5862 T A 5: 26,224,514 (GRCm39) T152S probably benign Het
Gnb3 T A 6: 124,814,218 (GRCm39) D154V probably damaging Het
Ighv1-14 T C 12: 114,610,457 (GRCm39) noncoding transcript Het
Klrb1 C A 6: 128,699,968 (GRCm39) E14D probably benign Het
Osbpl1a A T 18: 12,889,271 (GRCm39) D556E possibly damaging Het
Pkd1 T C 17: 24,795,497 (GRCm39) V2330A probably damaging Het
Pkdrej T C 15: 85,701,901 (GRCm39) K1345R possibly damaging Het
Plxna4 A G 6: 32,134,936 (GRCm39) F1756L probably damaging Het
Psg28 A C 7: 18,164,296 (GRCm39) S139A probably benign Het
Ptpru A T 4: 131,535,792 (GRCm39) I395N possibly damaging Het
Reps1 A G 10: 17,983,435 (GRCm39) E426G probably damaging Het
Rtp4 T A 16: 23,432,004 (GRCm39) S179T probably benign Het
Sh3pxd2a C A 19: 47,257,035 (GRCm39) R561L probably benign Het
Slc29a2 T A 19: 5,077,467 (GRCm39) L215Q possibly damaging Het
Slc44a4 T C 17: 35,147,994 (GRCm39) F653L probably damaging Het
Sulf1 G T 1: 12,906,428 (GRCm39) R490L possibly damaging Het
Ttll4 T C 1: 74,725,052 (GRCm39) L602P probably damaging Het
Ttn A G 2: 76,607,134 (GRCm39) V17963A probably damaging Het
Urb1 A G 16: 90,557,347 (GRCm39) S1760P probably damaging Het
Zmynd11 G A 13: 9,747,724 (GRCm39) R149W probably damaging Het
Other mutations in Clic5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03196:Clic5 APN 17 44,552,960 (GRCm39) missense possibly damaging 0.59
IGL03394:Clic5 APN 17 44,548,105 (GRCm39) missense probably benign 0.19
R0035:Clic5 UTSW 17 44,586,200 (GRCm39) missense probably damaging 1.00
R0035:Clic5 UTSW 17 44,586,200 (GRCm39) missense probably damaging 1.00
R0375:Clic5 UTSW 17 44,581,510 (GRCm39) missense possibly damaging 0.65
R2909:Clic5 UTSW 17 44,586,146 (GRCm39) missense probably benign 0.00
R4541:Clic5 UTSW 17 44,552,956 (GRCm39) missense probably damaging 1.00
R7101:Clic5 UTSW 17 44,586,179 (GRCm39) missense probably benign
R8215:Clic5 UTSW 17 44,586,228 (GRCm39) nonsense probably null
R8904:Clic5 UTSW 17 44,552,992 (GRCm39) missense probably benign 0.17
R8947:Clic5 UTSW 17 44,553,148 (GRCm39) intron probably benign
Posted On 2013-12-09