Incidental Mutation 'IGL03394:Clic5'
ID 421172
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 # IGL03394
Quality Score
Status
Chromosome 17
Chromosomal Location 44445671-44591059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44548105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 50 (N50S)
Ref Sequence ENSEMBL: ENSMUSP00000024755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024755]
AlphaFold Q8BXK9
Predicted Effect probably benign
Transcript: ENSMUST00000024755
AA Change: N50S

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000024755
Gene: ENSMUSG00000023959
AA Change: N50S

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,635,277 (GRCm39) L242P probably damaging Het
Adam22 T C 5: 8,217,379 (GRCm39) I139V probably benign Het
Ahr G T 12: 35,553,751 (GRCm39) Y789* probably null Het
Ankrd27 C A 7: 35,306,523 (GRCm39) probably null Het
Ano1 T C 7: 144,149,176 (GRCm39) probably null Het
Ap4e1 T A 2: 126,905,317 (GRCm39) M996K probably benign Het
Bglap T C 3: 88,291,312 (GRCm39) K42E probably benign Het
Ccdc30 A T 4: 119,216,779 (GRCm39) S220R probably damaging Het
Csnk2a1-ps3 A T 1: 156,352,792 (GRCm39) Q331L probably benign Het
Cyp20a1 T G 1: 60,405,840 (GRCm39) D211E probably damaging Het
Dctn1 G A 6: 83,168,266 (GRCm39) V408I possibly damaging Het
Exoc6 T C 19: 37,588,020 (GRCm39) I551T probably benign Het
Fat4 C T 3: 38,946,168 (GRCm39) T1687M probably damaging Het
Fat4 T A 3: 39,063,513 (GRCm39) C4490S probably damaging Het
Fras1 T A 5: 96,815,336 (GRCm39) I1351N probably damaging Het
Igkv2-116 T C 6: 68,129,327 (GRCm39) noncoding transcript Het
Iws1 T G 18: 32,221,301 (GRCm39) probably benign Het
Mlh1 A T 9: 111,097,311 (GRCm39) I61N probably damaging Het
Mtmr7 C T 8: 41,061,972 (GRCm39) V38M probably damaging Het
Myh7 G T 14: 55,212,818 (GRCm39) A1409D probably damaging Het
Myt1 A T 2: 181,439,638 (GRCm39) I387F probably damaging Het
Nars2 A G 7: 96,689,220 (GRCm39) N381D possibly damaging Het
Nsd3 T C 8: 26,165,765 (GRCm39) probably benign Het
Nup107 A G 10: 117,617,933 (GRCm39) S162P probably damaging Het
Oog2 T C 4: 143,920,576 (GRCm39) F3S probably benign Het
Or8b1b A G 9: 38,375,517 (GRCm39) Y60C probably damaging Het
Oxgr1 T C 14: 120,260,022 (GRCm39) M62V possibly damaging Het
Pcgf1 A G 6: 83,056,121 (GRCm39) Y75C probably damaging Het
Ppp3cc C A 14: 70,462,477 (GRCm39) E396* probably null Het
Ptx4 T A 17: 25,343,649 (GRCm39) C300S probably damaging Het
Rassf4 C T 6: 116,618,708 (GRCm39) V192I probably damaging Het
Rundc3b T C 5: 8,598,261 (GRCm39) T203A possibly damaging Het
Serpinb3c T C 1: 107,199,603 (GRCm39) D306G probably benign Het
Sipa1l2 T C 8: 126,218,398 (GRCm39) E313G possibly damaging Het
Snx5 G A 2: 144,095,674 (GRCm39) A329V probably damaging Het
Stx1b T C 7: 127,407,056 (GRCm39) D213G probably damaging Het
Tpd52l2 G A 2: 181,156,879 (GRCm39) V172I probably benign Het
Trim50 A T 5: 135,392,807 (GRCm39) I241F probably damaging Het
Ttn G A 2: 76,580,760 (GRCm39) H23378Y probably benign Het
Vmn1r193 T A 13: 22,403,939 (GRCm39) M18L probably benign Het
Vmn1r226 A G 17: 20,908,446 (GRCm39) N226S probably benign Het
Vmn2r14 T A 5: 109,367,702 (GRCm39) Q430L probably null Het
Xirp2 T A 2: 67,345,538 (GRCm39) V2593D probably damaging Het
Zfp169 A T 13: 48,643,400 (GRCm39) F576I possibly damaging Het
Zfp667 T C 7: 6,292,438 (GRCm39) probably null Het
Zzef1 A G 11: 72,777,601 (GRCm39) probably null Het
Other mutations in Clic5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01606:Clic5 APN 17 44,559,633 (GRCm39) missense probably benign 0.00
IGL03196:Clic5 APN 17 44,552,960 (GRCm39) missense possibly damaging 0.59
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 2016-08-02