Incidental Mutation 'IGL03196:Clic5'
ID 412829
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 # IGL03196
Quality Score
Status
Chromosome 17
Chromosomal Location 44445671-44591059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44552960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 71 (H71Q)
Ref Sequence ENSEMBL: ENSMUSP00000024755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024755]
AlphaFold Q8BXK9
Predicted Effect possibly damaging
Transcript: ENSMUST00000024755
AA Change: H71Q

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000024755
Gene: ENSMUSG00000023959
AA Change: H71Q

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,138,045 (GRCm39) V57A probably damaging Het
Adck1 T C 12: 88,397,885 (GRCm39) V173A probably damaging Het
Adgrv1 C A 13: 81,594,597 (GRCm39) R4139L probably benign Het
Aqp4 T G 18: 15,526,566 (GRCm39) D305A probably benign Het
Cadm1 T C 9: 47,710,675 (GRCm39) S193P possibly damaging Het
Ccdc88a T C 11: 29,432,340 (GRCm39) S377P possibly damaging Het
Col20a1 G A 2: 180,649,671 (GRCm39) probably null Het
Col5a1 A G 2: 27,865,610 (GRCm39) D759G unknown Het
Cplane1 A T 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Cpt1b A G 15: 89,308,598 (GRCm39) V110A probably benign Het
Cts8 C T 13: 61,401,272 (GRCm39) G85S probably benign Het
Cul5 T A 9: 53,537,180 (GRCm39) M551L probably damaging Het
Eno1b T A 18: 48,180,558 (GRCm39) D245E probably damaging Het
Fgf1 A T 18: 38,975,028 (GRCm39) Y140* probably null Het
Flt1 A G 5: 147,551,937 (GRCm39) probably null Het
Fndc7 A G 3: 108,790,760 (GRCm39) Y89H probably damaging Het
Gm3127 A T 14: 15,432,259 (GRCm39) M254L probably benign Het
Gm5849 T C 3: 90,685,089 (GRCm39) E32G probably damaging Het
Gys1 T C 7: 45,104,241 (GRCm39) probably benign Het
H2ap A G X: 9,713,349 (GRCm39) Q27R possibly damaging Het
Hdgfl2 T C 17: 56,400,607 (GRCm39) V125A probably benign Het
Igkv6-32 C T 6: 70,051,042 (GRCm39) V105I probably benign Het
Lmo3 T C 6: 138,342,993 (GRCm39) T140A probably benign Het
Marf1 A G 16: 13,958,123 (GRCm39) V793A possibly damaging Het
Mep1b A C 18: 21,228,121 (GRCm39) I575L probably benign Het
Mtmr4 T A 11: 87,491,609 (GRCm39) I155N possibly damaging Het
Muc2 T C 7: 141,301,367 (GRCm39) F361L probably damaging Het
Ncoa7 T A 10: 30,523,510 (GRCm39) probably benign Het
Nme6 C T 9: 109,670,561 (GRCm39) R71W probably damaging Het
Or56b1b T C 7: 108,164,061 (GRCm39) S314G probably benign Het
Or9g4b G A 2: 85,616,365 (GRCm39) G170D possibly damaging Het
Or9m2 A T 2: 87,820,826 (GRCm39) I124F possibly damaging Het
Osbpl9 C T 4: 108,930,061 (GRCm39) V357I probably damaging Het
Ppp4r3a A G 12: 101,015,913 (GRCm39) probably benign Het
Rnf216 T C 5: 143,066,766 (GRCm39) R474G probably damaging Het
Rpp25l A G 4: 41,712,541 (GRCm39) V78A possibly damaging Het
Sh3bp2 C A 5: 34,714,687 (GRCm39) P245Q probably damaging Het
Slc33a1 A G 3: 63,871,151 (GRCm39) F154S possibly damaging Het
Wasf2 T A 4: 132,921,732 (GRCm39) S284T unknown Het
Wdtc1 T C 4: 133,022,648 (GRCm39) E566G probably damaging Het
Zcchc14 C T 8: 122,335,877 (GRCm39) probably benign Het
Other mutations in Clic5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01606:Clic5 APN 17 44,559,633 (GRCm39) missense probably benign 0.00
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 2016-08-02