Incidental Mutation 'IGL03191:Cct8'
ID412638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cct8
Ensembl Gene ENSMUSG00000025613
Gene Namechaperonin containing Tcp1, subunit 8 (theta)
SynonymsCctq, Tcpq
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock #IGL03191
Quality Score
Status
Chromosome16
Chromosomal Location87483326-87495873 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87486310 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 380 (S380P)
Ref Sequence ENSEMBL: ENSMUSP00000026704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026704] [ENSMUST00000026710] [ENSMUST00000119504] [ENSMUST00000144759] [ENSMUST00000175977] [ENSMUST00000176041] [ENSMUST00000176750] [ENSMUST00000177376]
Predicted Effect probably damaging
Transcript: ENSMUST00000026704
AA Change: S380P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026704
Gene: ENSMUSG00000025613
AA Change: S380P

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 39 529 6.7e-156 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026710
SMART Domains Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616

DomainStartEndE-ValueType
Pfam:zf-UBP 48 127 2.5e-23 PFAM
coiled coil region 149 182 N/A INTRINSIC
Pfam:UCH 194 821 2e-54 PFAM
Pfam:UCH_1 195 800 3.8e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119504
SMART Domains Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616

DomainStartEndE-ValueType
Pfam:zf-UBP 48 127 6.9e-24 PFAM
coiled coil region 149 181 N/A INTRINSIC
Pfam:UCH 193 732 1.2e-36 PFAM
Pfam:UCH_1 194 737 2.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144759
SMART Domains Protein: ENSMUSP00000116323
Gene: ENSMUSG00000025616

DomainStartEndE-ValueType
Pfam:zf-UBP 48 127 2e-24 PFAM
coiled coil region 149 181 N/A INTRINSIC
Pfam:UCH 193 330 2.4e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149656
Predicted Effect unknown
Transcript: ENSMUST00000175750
AA Change: S138P
SMART Domains Protein: ENSMUSP00000134920
Gene: ENSMUSG00000025613
AA Change: S138P

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 1 238 1.2e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000175977
AA Change: S321P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135651
Gene: ENSMUSG00000025613
AA Change: S321P

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 39 132 4.5e-32 PFAM
Pfam:Cpn60_TCP1 120 470 1.9e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176041
SMART Domains Protein: ENSMUSP00000135377
Gene: ENSMUSG00000025613

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 1 158 3.3e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176589
Predicted Effect probably benign
Transcript: ENSMUST00000176750
SMART Domains Protein: ENSMUSP00000135830
Gene: ENSMUSG00000025613

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 1 132 1.7e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177301
Predicted Effect probably benign
Transcript: ENSMUST00000177376
SMART Domains Protein: ENSMUSP00000135498
Gene: ENSMUSG00000025613

DomainStartEndE-ValueType
PDB:4B2T|Q 1 51 1e-29 PDB
SCOP:d1oela1 26 51 8e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177485
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the theta subunit of the CCT chaperonin, which is abundant in the eukaryotic cytosol and may be involved in the transport and assembly of newly synthesized proteins. Alternative splicing results in multiple transcript variants of this gene. A pseudogene related to this gene is located on chromosome 1. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 A G 1: 58,359,069 D1323G probably null Het
Asxl2 A G 12: 3,500,094 D612G probably damaging Het
Cacna1c A T 6: 118,741,903 F395L probably damaging Het
Cltb T C 13: 54,599,070 E31G probably damaging Het
Cobl T C 11: 12,253,364 M1031V probably benign Het
Colgalt1 C A 8: 71,623,087 probably null Het
Dcstamp A G 15: 39,754,224 I10V probably benign Het
Diaph3 T C 14: 87,073,302 I138V possibly damaging Het
Dnah8 T C 17: 30,726,830 V1827A probably damaging Het
Dpf1 T A 7: 29,316,561 probably benign Het
Dscam A T 16: 96,820,769 L494Q probably benign Het
Eif2ak4 C T 2: 118,422,212 H422Y probably damaging Het
Galnt10 T C 11: 57,771,500 V324A probably damaging Het
Gm17689 T C 9: 36,581,402 D69G probably benign Het
Hcfc1 T C X: 73,955,614 I309V probably benign Het
Il24 T C 1: 130,884,847 T96A probably benign Het
Itga2 T C 13: 114,836,484 probably benign Het
Lrrc32 A G 7: 98,498,247 H78R possibly damaging Het
Lrrk1 T C 7: 66,259,959 E2001G probably damaging Het
Lztr1 T A 16: 17,518,528 M199K probably damaging Het
Mcm8 A G 2: 132,821,442 Y160C possibly damaging Het
Msh4 G A 3: 153,869,608 T710M probably damaging Het
Pilrb1 A T 5: 137,854,965 L192Q probably damaging Het
Pim1 T A 17: 29,493,719 probably benign Het
Slc12a1 A T 2: 125,206,089 Q817L possibly damaging Het
Trip11 T C 12: 101,898,925 D163G probably damaging Het
Tsc2 A T 17: 24,628,054 V179E probably damaging Het
Zfp641 C T 15: 98,288,687 V352M probably damaging Het
Other mutations in Cct8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02054:Cct8 APN 16 87490476 splice site probably benign
IGL02975:Cct8 APN 16 87486230 splice site probably benign
IGL03015:Cct8 APN 16 87486665 splice site probably benign
PIT4151001:Cct8 UTSW 16 87487657 missense probably damaging 1.00
R0479:Cct8 UTSW 16 87487706 missense probably damaging 1.00
R0972:Cct8 UTSW 16 87486620 missense possibly damaging 0.94
R1368:Cct8 UTSW 16 87491312 missense probably damaging 0.99
R1544:Cct8 UTSW 16 87491454 splice site probably benign
R1548:Cct8 UTSW 16 87485584 missense probably damaging 0.99
R1823:Cct8 UTSW 16 87490554 nonsense probably null
R2303:Cct8 UTSW 16 87490332 unclassified probably null
R3076:Cct8 UTSW 16 87488877 missense possibly damaging 0.84
R3078:Cct8 UTSW 16 87488877 missense possibly damaging 0.84
R4094:Cct8 UTSW 16 87487628 missense possibly damaging 0.94
R4713:Cct8 UTSW 16 87487688 nonsense probably null
R5031:Cct8 UTSW 16 87487538 missense probably damaging 0.99
R5687:Cct8 UTSW 16 87488821 missense probably benign 0.00
R6325:Cct8 UTSW 16 87495727 critical splice donor site probably null
R6391:Cct8 UTSW 16 87487678 missense probably benign 0.00
R6395:Cct8 UTSW 16 87486476 nonsense probably null
R7252:Cct8 UTSW 16 87484919 missense probably benign 0.01
R7570:Cct8 UTSW 16 87491322 missense probably benign 0.18
Posted On2016-08-02