Incidental Mutation 'R0035:Clic5'
Institutional Source Beutler Lab
Gene Symbol Clic5
Ensembl Gene ENSMUSG00000023959
Gene Namechloride intracellular channel 5
MMRRC Submission 038329-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0035 (G1)
Quality Score
Status Validated
Chromosomal Location44188572-44280168 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44275313 bp
Amino Acid Change Threonine to Alanine at position 230 (T230A)
Ref Sequence ENSEMBL: ENSMUSP00000024755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024755]
Predicted Effect probably damaging
Transcript: ENSMUST00000024755
AA Change: T230A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024755
Gene: ENSMUSG00000023959
AA Change: T230A

Pfam:GST_N_3 28 100 2.4e-10 PFAM
Pfam:GST_C_2 90 220 1e-9 PFAM
Meta Mutation Damage Score 0.352 question?
Coding Region Coverage
  • 1x: 75.6%
  • 3x: 61.5%
  • 10x: 31.6%
  • 20x: 15.2%
Validation Efficiency 94% (51/54)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110040N11Rik T C 7: 81,788,549 T20A probably benign Het
Acvr1c A G 2: 58,315,779 probably benign Het
Aox2 T C 1: 58,354,422 V1247A probably benign Het
Ap4b1 T C 3: 103,820,664 probably benign Het
Cfap53 A G 18: 74,300,207 E121G probably damaging Het
Clec4a3 T A 6: 122,967,549 Y185N probably damaging Het
Clspn G T 4: 126,565,003 probably null Het
Deup1 T C 9: 15,599,821 R221G possibly damaging Het
Dnah8 A T 17: 30,683,621 probably benign Het
Dnase1l2 A G 17: 24,441,075 V273A probably damaging Het
Gm5134 T A 10: 75,993,864 F328Y probably benign Het
Il1f8 A T 2: 24,159,878 H167L probably benign Het
Il23r A G 6: 67,473,788 probably benign Het
Ktn1 A G 14: 47,730,379 N1167D probably benign Het
Map6 C T 7: 99,317,608 T345I probably damaging Het
Mark2 A T 19: 7,284,652 probably benign Het
Nr1h5 T A 3: 102,949,573 K208* probably null Het
Obp2b T C 2: 25,738,633 L133P probably damaging Het
Ptafr C A 4: 132,579,553 L85I probably benign Het
Ptprk T A 10: 28,263,508 Y76* probably null Het
Rad50 A G 11: 53,655,027 probably benign Het
Rasef G T 4: 73,762,854 probably benign Het
Tbc1d17 T C 7: 44,841,408 N587D probably benign Het
Zc3h12c A T 9: 52,143,747 M235K probably benign Het
Zfp619 G A 7: 39,537,282 G912D probably damaging Het
Zfp982 A C 4: 147,512,692 K169Q probably benign Het
Other mutations in Clic5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01606:Clic5 APN 17 44248746 missense probably benign 0.00
IGL03196:Clic5 APN 17 44242073 missense possibly damaging 0.59
IGL03394:Clic5 APN 17 44237218 missense probably benign 0.19
R0035:Clic5 UTSW 17 44275313 missense probably damaging 1.00
R0375:Clic5 UTSW 17 44270623 missense possibly damaging 0.65
R2909:Clic5 UTSW 17 44275259 missense probably benign 0.00
R4541:Clic5 UTSW 17 44242069 missense probably damaging 1.00
R7101:Clic5 UTSW 17 44275292 missense probably benign
Posted On2012-12-17