Incidental Mutation 'R8215:Clic5'
ID 636395
Institutional Source Beutler Lab
Gene Symbol Clic5
Ensembl Gene ENSMUSG00000023959
Gene Name chloride intracellular channel 5
Synonyms 5730531E12Rik, nmf318
MMRRC Submission 067657-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8215 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 44445671-44591059 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 44586228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 239 (L239*)
Ref Sequence ENSEMBL: ENSMUSP00000024755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024755]
AlphaFold Q8BXK9
Predicted Effect probably null
Transcript: ENSMUST00000024755
AA Change: L239*
SMART Domains Protein: ENSMUSP00000024755
Gene: ENSMUSG00000023959
AA Change: L239*

DomainStartEndE-ValueType
Pfam:GST_N_3 28 100 2.4e-10 PFAM
Pfam:GST_C_2 90 220 1e-9 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 93.8%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik G T 15: 81,949,301 (GRCm39) R1066L probably benign Het
Abca14 A C 7: 119,893,425 (GRCm39) I1292L probably benign Het
Adam34l T A 8: 44,079,538 (GRCm39) T229S probably benign Het
Adamtsl1 T G 4: 86,261,382 (GRCm39) F1206V probably benign Het
Agl T C 3: 116,582,293 (GRCm39) H243R probably damaging Het
Btn2a2 A C 13: 23,666,040 (GRCm39) L264R probably damaging Het
Ccdc33 A T 9: 57,939,995 (GRCm39) S749T probably benign Het
Cd55b CTTTT CTTTTT 1: 130,347,337 (GRCm39) probably null Het
Cdh8 A G 8: 99,757,498 (GRCm39) I700T possibly damaging Het
Cfap65 A G 1: 74,949,902 (GRCm39) L1201P probably damaging Het
Chsy3 C T 18: 59,308,941 (GRCm39) Q65* probably null Het
Corin T C 5: 72,462,361 (GRCm39) D957G probably damaging Het
Cped1 A T 6: 22,132,277 (GRCm39) Y486F probably damaging Het
Csnk1g3 C T 18: 54,081,151 (GRCm39) T374M probably benign Het
D930020B18Rik T A 10: 121,503,429 (GRCm39) C201* probably null Het
Dnah2 A G 11: 69,326,193 (GRCm39) F3653L probably damaging Het
F11r GGTGTG GGTGTGTG 1: 171,290,656 (GRCm39) probably null Het
Foxj3 T G 4: 119,478,808 (GRCm39) S455R unknown Het
Gcnt3 T C 9: 69,941,455 (GRCm39) D371G probably damaging Het
Gm10837 A G 14: 122,728,193 (GRCm39) E23G unknown Het
Hivep3 T C 4: 119,980,098 (GRCm39) V1712A probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hoxa2 A G 6: 52,140,041 (GRCm39) V315A probably damaging Het
Irx5 A T 8: 93,086,241 (GRCm39) Y108F possibly damaging Het
Itsn1 T C 16: 91,608,996 (GRCm39) I248T probably damaging Het
Kcnb1 T C 2: 166,946,361 (GRCm39) K829R probably benign Het
Klhl17 A G 4: 156,314,510 (GRCm39) V635A unknown Het
Krr1 C T 10: 111,815,834 (GRCm39) R234* probably null Het
Lrrc7 A T 3: 157,915,387 (GRCm39) D209E probably benign Het
Mcm2 T C 6: 88,874,293 (GRCm39) E71G probably damaging Het
Mroh5 C A 15: 73,691,139 (GRCm39) K10N probably damaging Het
Myh3 A G 11: 66,992,005 (GRCm39) E1850G probably damaging Het
Nedd9 T C 13: 41,492,319 (GRCm39) I64V probably benign Het
Nisch A G 14: 30,908,658 (GRCm39) S456P possibly damaging Het
Nrcam T C 12: 44,610,896 (GRCm39) V532A probably benign Het
Or51k1 T C 7: 103,661,330 (GRCm39) D193G possibly damaging Het
Or5p51 T G 7: 107,444,124 (GRCm39) D272A probably damaging Het
Or7g32 T C 9: 19,408,796 (GRCm39) F251L probably damaging Het
Or8k17 C T 2: 86,066,862 (GRCm39) V106M probably benign Het
Plekhg1 C T 10: 3,907,521 (GRCm39) P868S Het
Ptf1a A G 2: 19,450,760 (GRCm39) Q30R possibly damaging Het
Ptgs1 G T 2: 36,141,179 (GRCm39) C542F probably damaging Het
Rere T A 4: 150,701,424 (GRCm39) M1268K possibly damaging Het
Rp1 A G 1: 4,315,318 (GRCm39) F485L unknown Het
Samd14 A T 11: 94,905,213 (GRCm39) E8D probably benign Het
Serpinh1 A G 7: 98,995,545 (GRCm39) Y346H possibly damaging Het
Shq1 A T 6: 100,648,021 (GRCm39) M1K probably null Het
Tfrc T C 16: 32,443,848 (GRCm39) S551P probably damaging Het
Tnr A C 1: 159,715,860 (GRCm39) N874T possibly damaging Het
Trak1 C A 9: 121,298,096 (GRCm39) T667N probably damaging Het
Trpv2 A C 11: 62,481,757 (GRCm39) T423P probably damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn2r24 A G 6: 123,756,077 (GRCm39) T50A probably benign Het
Xirp2 T A 2: 67,346,853 (GRCm39) D3031E probably benign Het
Zbed6 G T 1: 133,586,530 (GRCm39) A269E probably damaging Het
Zbtb4 A C 11: 69,669,598 (GRCm39) I774L probably benign Het
Zbtb47 T C 9: 121,596,344 (GRCm39) S604P probably benign Het
Zfhx3 A G 8: 109,677,349 (GRCm39) T2800A probably benign 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
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
R8904:Clic5 UTSW 17 44,552,992 (GRCm39) missense probably benign 0.17
R8947:Clic5 UTSW 17 44,553,148 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GATATGCACAGCCACCCATG -3'
(R):5'- AGTTCAGGGGTGCCAGTAAG -3'

Sequencing Primer
(F):5'- TGGTCCCAACACCTCCTAATG -3'
(R):5'- TCAGGGGTGCCAGTAAGATGTG -3'
Posted On 2020-07-13