Incidental Mutation 'R7101:Clic5'
ID 550863
Institutional Source Beutler Lab
Gene Symbol Clic5
Ensembl Gene ENSMUSG00000023959
Gene Name chloride intracellular channel 5
Synonyms 5730531E12Rik, nmf318
MMRRC Submission 045193-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7101 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 44445671-44591059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44586179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 223 (A223S)
Ref Sequence ENSEMBL: ENSMUSP00000024755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024755]
AlphaFold Q8BXK9
Predicted Effect probably benign
Transcript: ENSMUST00000024755
AA Change: A223S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024755
Gene: ENSMUSG00000023959
AA Change: A223S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,208,438 (GRCm39) D568G probably benign Het
Angpt1 T C 15: 42,386,965 (GRCm39) I130V probably benign Het
Ankrd11 G T 8: 123,622,194 (GRCm39) Q553K probably benign Het
Ankrd42 A T 7: 92,280,752 (GRCm39) H59Q possibly damaging Het
Ankrd52 C T 10: 128,218,249 (GRCm39) R318C probably damaging Het
Arrdc5 G A 17: 56,601,522 (GRCm39) T201M probably damaging Het
Atxn1l A G 8: 110,459,132 (GRCm39) S377P probably benign Het
Baz2a T C 10: 127,957,056 (GRCm39) F936S possibly damaging Het
Bicc1 T C 10: 70,766,483 (GRCm39) D913G probably damaging Het
Blnk T A 19: 40,961,082 (GRCm39) M21L probably benign Het
Cabin1 T C 10: 75,587,401 (GRCm39) H132R probably benign Het
Ccdc154 A G 17: 25,382,442 (GRCm39) H88R probably benign Het
Cfap20dc G T 14: 8,511,171 (GRCm38) S414R possibly damaging Het
Col28a1 T A 6: 8,014,795 (GRCm39) Y870F possibly damaging Het
Dhx37 G A 5: 125,502,006 (GRCm39) Q497* probably null Het
Dnah11 T C 12: 118,031,880 (GRCm39) T1763A probably benign Het
Dnajc13 T C 9: 104,042,221 (GRCm39) R2005G possibly damaging Het
Dop1a G A 9: 86,389,722 (GRCm39) G541S probably benign Het
Drosha C T 15: 12,865,153 (GRCm39) T627M probably damaging Het
Ephb3 C T 16: 21,037,268 (GRCm39) H455Y possibly damaging Het
Eri1 A C 8: 35,949,777 (GRCm39) C127G probably damaging Het
Faf1 A T 4: 109,783,153 (GRCm39) E548D probably benign Het
Gm3285 C A 10: 77,698,194 (GRCm39) C114* probably null Het
Gm9736 C T 10: 77,587,167 (GRCm39) V8I unknown Het
Gnptab A T 10: 88,276,174 (GRCm39) M1154L probably benign Het
Grin1 G A 2: 25,186,647 (GRCm39) T770M probably damaging Het
Haus1 A G 18: 77,854,570 (GRCm39) S67P possibly damaging Het
Homer1 C A 13: 93,492,562 (GRCm39) Q184K probably benign Het
Hook2 A G 8: 85,723,680 (GRCm39) T401A probably benign Het
Il6st G A 13: 112,631,907 (GRCm39) probably null Het
Kcnh8 A T 17: 53,212,038 (GRCm39) D612V probably damaging Het
Ltbr C G 6: 125,289,763 (GRCm39) E144Q probably benign Het
Mcf2l G T 8: 13,063,579 (GRCm39) R961L possibly damaging Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myo1b G T 1: 51,797,160 (GRCm39) Q961K probably benign Het
Myo1h C A 5: 114,480,258 (GRCm39) T531N Het
Ngly1 G A 14: 16,283,445 (GRCm38) R408Q probably damaging Het
Nup133 T C 8: 124,632,966 (GRCm39) E1055G possibly damaging Het
Nutm2 A G 13: 50,626,934 (GRCm39) K363R probably benign Het
Obox8 A T 7: 14,066,752 (GRCm39) Y97* probably null Het
Odc1 A G 12: 17,597,319 (GRCm39) D7G probably benign Het
Ogfod2 C T 5: 124,252,558 (GRCm39) T182I unknown Het
Or2t49 A G 11: 58,393,379 (GRCm39) M7T probably benign Het
Or4c111 A T 2: 88,844,324 (GRCm39) V28E possibly damaging Het
Or8b12b T C 9: 37,684,287 (GRCm39) S111P probably damaging Het
Or8b46 G A 9: 38,450,966 (GRCm39) M258I probably benign Het
Parp4 A G 14: 56,827,430 (GRCm39) D188G probably benign Het
Phactr2 T C 10: 13,122,922 (GRCm39) E400G probably benign Het
Phlpp1 G A 1: 106,100,397 (GRCm39) V222M possibly damaging Het
Ppp1r16b T C 2: 158,603,683 (GRCm39) V536A probably damaging Het
Prex2 T C 1: 11,223,833 (GRCm39) V719A possibly damaging Het
Prpf8 C T 11: 75,381,226 (GRCm39) A242V possibly damaging Het
Prr14l A G 5: 32,986,771 (GRCm39) L908P probably damaging Het
Prrc2b A G 2: 32,117,005 (GRCm39) N2146D possibly damaging Het
Rtkn T C 6: 83,126,993 (GRCm39) V333A possibly damaging Het
Samd8 T C 14: 21,825,442 (GRCm39) Y196H probably benign Het
Six5 A G 7: 18,828,784 (GRCm39) T75A probably benign Het
Slc35a4 T A 18: 36,814,591 (GRCm39) L42H probably damaging Het
Svs3a A T 2: 164,131,933 (GRCm39) D168V probably damaging Het
Themis T A 10: 28,637,422 (GRCm39) Y175* probably null Het
Tspan33 G T 6: 29,716,783 (GRCm39) R180L probably benign Het
Ttc28 C T 5: 111,232,958 (GRCm39) S145F probably damaging Het
Txn2 G A 15: 77,810,878 (GRCm39) T102I unknown Het
Usp34 T A 11: 23,376,183 (GRCm39) V1908E Het
Vmn2r101 A G 17: 19,809,350 (GRCm39) I160V probably null Het
Vmn2r104 A T 17: 20,250,358 (GRCm39) C638S possibly damaging Het
Wdfy4 C T 14: 32,682,777 (GRCm39) R3136Q Het
Zan C A 5: 137,396,552 (GRCm39) A4335S unknown Het
Zfp180 G T 7: 23,803,958 (GRCm39) V126F probably benign Het
Zfp429 T A 13: 67,538,931 (GRCm39) D171V possibly damaging Het
Zfp638 T C 6: 83,931,708 (GRCm39) I798T 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
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
Predicted Primers PCR Primer
(F):5'- AGCTTCTCTTGGCCATGCTG -3'
(R):5'- TTTATGTTTCCCCAAGGCAATG -3'

Sequencing Primer
(F):5'- TATGCAAACATACCTGATATGCACAG -3'
(R):5'- CAATGGGGAAGAAGAGTCTGTAGAGC -3'
Posted On 2019-05-15