Incidental Mutation 'IGL00847:Cct5'
ID29015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cct5
Ensembl Gene ENSMUSG00000022234
Gene Namechaperonin containing Tcp1, subunit 5 (epsilon)
SynonymsCcte, TCPE
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #IGL00847
Quality Score
Status
Chromosome15
Chromosomal Location31590800-31601804 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 31590927 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022842] [ENSMUST00000070918] [ENSMUST00000161266] [ENSMUST00000162532] [ENSMUST00000226951]
Predicted Effect probably benign
Transcript: ENSMUST00000022842
SMART Domains Protein: ENSMUSP00000022842
Gene: ENSMUSG00000022234

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 44 537 7.7e-160 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070918
SMART Domains Protein: ENSMUSP00000070314
Gene: ENSMUSG00000022235

DomainStartEndE-ValueType
Pfam:DLH 30 245 6e-40 PFAM
Pfam:Abhydrolase_5 44 213 1.1e-16 PFAM
Pfam:FSH1 77 214 1.7e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160174
Predicted Effect probably benign
Transcript: ENSMUST00000161266
SMART Domains Protein: ENSMUSP00000125566
Gene: ENSMUSG00000022234

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 6 199 5.4e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162532
SMART Domains Protein: ENSMUSP00000125296
Gene: ENSMUSG00000022235

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 26 174 3.2e-11 PFAM
Pfam:DLH 30 174 3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226951
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,152,290 E142G possibly damaging Het
Arid4a C T 12: 71,075,718 P958S probably damaging Het
BC049730 A G 7: 24,714,248 T230A probably benign Het
Cntnap4 C T 8: 112,767,619 probably benign Het
Col4a3 C T 1: 82,717,869 L1597F probably damaging Het
Gla C A X: 134,595,198 V179L probably benign Het
Gm20422 A T 8: 69,742,992 C212* probably null Het
Hace1 T A 10: 45,672,357 Y14* probably null Het
Hcfc2 T A 10: 82,741,278 probably null Het
Helz2 T C 2: 181,232,245 D2152G possibly damaging Het
Mcm8 T G 2: 132,819,674 L74V probably benign Het
Myo18b A G 5: 112,830,389 probably benign Het
Ptprg A T 14: 12,215,265 N1084I probably damaging Het
Rad21l C A 2: 151,660,715 A192S probably benign Het
Scn2a A G 2: 65,670,734 D80G probably damaging Het
Serpinb3c A G 1: 107,276,260 probably null Het
Sgip1 A G 4: 102,928,921 probably benign Het
Slc25a41 G T 17: 57,034,957 probably null Het
Snx14 C A 9: 88,420,329 R140S probably damaging Het
Svs6 A C 2: 164,317,587 K90T possibly damaging Het
Tlcd1 T A 11: 78,180,088 Y168N probably damaging Het
Vps13d A G 4: 145,085,408 I3312T probably benign Het
Zfp11 A G 5: 129,657,914 V161A probably benign Het
Other mutations in Cct5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02656:Cct5 APN 15 31597430 missense probably damaging 1.00
IGL03188:Cct5 APN 15 31598002 missense probably benign 0.10
IGL03052:Cct5 UTSW 15 31597487 missense probably damaging 1.00
R0279:Cct5 UTSW 15 31591031 missense probably damaging 1.00
R1933:Cct5 UTSW 15 31591008 missense probably benign 0.05
R2086:Cct5 UTSW 15 31594203 missense probably damaging 1.00
R4482:Cct5 UTSW 15 31597569 missense probably damaging 1.00
R5331:Cct5 UTSW 15 31594302 unclassified probably benign
R5618:Cct5 UTSW 15 31598015 missense possibly damaging 0.52
X0023:Cct5 UTSW 15 31601659 missense probably damaging 1.00
Posted On2013-04-17