Incidental Mutation 'IGL03188:Cct5'
ID 412509
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cct5
Ensembl Gene ENSMUSG00000022234
Gene Name chaperonin containing TCP1 subunit 5
Synonyms TCPE, Ccte
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03188
Quality Score
Status
Chromosome 15
Chromosomal Location 31590946-31601950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31598148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 55 (N55S)
Ref Sequence ENSEMBL: ENSMUSP00000022842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022842] [ENSMUST00000042702] [ENSMUST00000161266] [ENSMUST00000161061]
AlphaFold P80316
Predicted Effect probably benign
Transcript: ENSMUST00000022842
AA Change: N55S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022842
Gene: ENSMUSG00000022234
AA Change: N55S

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 44 537 7.7e-160 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042702
SMART Domains Protein: ENSMUSP00000039094
Gene: ENSMUSG00000039065

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
SCOP:d1dusa_ 87 186 2e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160174
Predicted Effect probably benign
Transcript: ENSMUST00000161266
AA Change: N17S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125566
Gene: ENSMUSG00000022234
AA Change: N17S

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 6 199 5.4e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161061
SMART Domains Protein: ENSMUSP00000124619
Gene: ENSMUSG00000039065

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,425,656 (GRCm39) C1202F probably damaging Het
Ago2 C T 15: 72,995,182 (GRCm39) V466I probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aptx A T 4: 40,695,143 (GRCm39) probably null Het
Aurka A T 2: 172,205,688 (GRCm39) D123E possibly damaging Het
Btaf1 T C 19: 36,926,508 (GRCm39) I60T possibly damaging Het
Ccdc154 A T 17: 25,383,067 (GRCm39) probably null Het
Cntnap3 A G 13: 64,929,559 (GRCm39) S547P probably damaging Het
Efl1 T A 7: 82,320,909 (GRCm39) I114N probably damaging Het
Gprin1 T C 13: 54,886,465 (GRCm39) D603G probably benign Het
Il16 A G 7: 83,337,371 (GRCm39) S115P probably benign Het
Kalrn C A 16: 34,134,562 (GRCm39) V401L probably benign Het
Kcnq4 T A 4: 120,561,623 (GRCm39) K482I possibly damaging Het
L3mbtl3 C T 10: 26,218,515 (GRCm39) A114T unknown Het
Lig1 G A 7: 13,045,032 (GRCm39) probably benign Het
Lnx1 G A 5: 74,780,924 (GRCm39) T199M probably damaging Het
Mapk13 A G 17: 28,995,557 (GRCm39) probably benign Het
Mfsd2b A T 12: 4,916,538 (GRCm39) probably null Het
Mrpl3 A G 9: 104,934,264 (GRCm39) D137G probably benign Het
Muc15 A G 2: 110,562,044 (GRCm39) D160G probably benign Het
Myh4 T C 11: 67,137,369 (GRCm39) probably null Het
Nipa2 T G 7: 55,582,680 (GRCm39) N355T probably benign Het
Or11h4 A T 14: 50,974,315 (GRCm39) Y101* probably null Het
Or2v2 T C 11: 49,004,536 (GRCm39) N6D probably damaging Het
Or51a43 A G 7: 103,717,945 (GRCm39) S98P possibly damaging Het
Or5p60 T C 7: 107,723,841 (GRCm39) T210A probably benign Het
Pfkm G T 15: 98,021,124 (GRCm39) probably null Het
Ppip5k1 A G 2: 121,157,327 (GRCm39) probably benign Het
Ppp1r18 A G 17: 36,178,857 (GRCm39) D244G possibly damaging Het
Rimoc1 A G 15: 4,018,187 (GRCm39) Y163H probably damaging Het
Scn2a T C 2: 65,501,997 (GRCm39) S107P probably damaging Het
Scn5a A T 9: 119,351,632 (GRCm39) I783N probably damaging Het
Snx1 A G 9: 66,001,734 (GRCm39) W307R probably damaging Het
Spata31g1 A G 4: 42,971,225 (GRCm39) Y186C possibly damaging Het
Stk11ip G A 1: 75,511,079 (GRCm39) V928M probably benign Het
Tgm4 A G 9: 122,874,101 (GRCm39) M114V probably null Het
Trpm2 G A 10: 77,754,743 (GRCm39) R1248C probably benign Het
Txnrd1 T C 10: 82,720,880 (GRCm39) I347T possibly damaging Het
Unc5a A G 13: 55,147,316 (GRCm39) S106G probably damaging Het
Vmn2r85 T C 10: 130,254,612 (GRCm39) M691V probably benign Het
Zfp58 T A 13: 67,639,528 (GRCm39) Q321L probably benign Het
Other mutations in Cct5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00847:Cct5 APN 15 31,591,073 (GRCm39) unclassified probably benign
IGL02656:Cct5 APN 15 31,597,576 (GRCm39) missense probably damaging 1.00
IGL03052:Cct5 UTSW 15 31,597,633 (GRCm39) missense probably damaging 1.00
R0279:Cct5 UTSW 15 31,591,177 (GRCm39) missense probably damaging 1.00
R1933:Cct5 UTSW 15 31,591,154 (GRCm39) missense probably benign 0.05
R2086:Cct5 UTSW 15 31,594,349 (GRCm39) missense probably damaging 1.00
R4482:Cct5 UTSW 15 31,597,715 (GRCm39) missense probably damaging 1.00
R5331:Cct5 UTSW 15 31,594,448 (GRCm39) unclassified probably benign
R5618:Cct5 UTSW 15 31,598,161 (GRCm39) missense possibly damaging 0.52
R8828:Cct5 UTSW 15 31,594,658 (GRCm39) missense possibly damaging 0.81
R9145:Cct5 UTSW 15 31,591,107 (GRCm39) missense
R9433:Cct5 UTSW 15 31,592,883 (GRCm39) missense possibly damaging 0.52
R9644:Cct5 UTSW 15 31,601,845 (GRCm39) missense probably benign 0.42
X0023:Cct5 UTSW 15 31,601,805 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02