Incidental Mutation 'R6395:Cct8'
ID 514753
Institutional Source Beutler Lab
Gene Symbol Cct8
Ensembl Gene ENSMUSG00000025613
Gene Name chaperonin containing TCP1 subunit 8
Synonyms Tcpq, Cctq
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R6395 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 87280213-87292757 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 87283364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 292 (Y292*)
Ref Sequence ENSEMBL: ENSMUSP00000135651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026704] [ENSMUST00000026710] [ENSMUST00000119504] [ENSMUST00000144759] [ENSMUST00000175977] [ENSMUST00000177376] [ENSMUST00000176041] [ENSMUST00000176750]
AlphaFold P42932
Predicted Effect probably null
Transcript: ENSMUST00000026704
AA Change: Y351*
SMART Domains Protein: ENSMUSP00000026704
Gene: ENSMUSG00000025613
AA Change: Y351*

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 probably null
Transcript: ENSMUST00000175750
AA Change: Y109*
SMART Domains Protein: ENSMUSP00000134920
Gene: ENSMUSG00000025613
AA Change: Y109*

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 1 238 1.2e-69 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000175977
AA Change: Y292*
SMART Domains Protein: ENSMUSP00000135651
Gene: ENSMUSG00000025613
AA Change: Y292*

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 39 132 4.5e-32 PFAM
Pfam:Cpn60_TCP1 120 470 1.9e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177485
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 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 noncoding transcript
Transcript: ENSMUST00000177275
Predicted Effect probably benign
Transcript: ENSMUST00000176750
SMART Domains Protein: ENSMUSP00000135830
Gene: ENSMUSG00000025613

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 1 132 1.7e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.3%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 C A 2: 113,879,731 (GRCm39) E243* probably null Het
Ahi1 T C 10: 20,855,491 (GRCm39) I600T possibly damaging Het
Apob A G 12: 8,058,507 (GRCm39) T2330A probably benign Het
Cabin1 A T 10: 75,582,576 (GRCm39) M280K probably benign Het
Ccdc117 T C 11: 5,484,762 (GRCm39) probably null Het
Celf1 A G 2: 90,834,203 (GRCm39) I165V probably benign Het
Cenpc1 A T 5: 86,183,429 (GRCm39) N453K probably benign Het
Chst10 T C 1: 38,910,770 (GRCm39) I131M probably damaging Het
Cltc A G 11: 86,616,006 (GRCm39) I420T probably damaging Het
Cspg4b T G 13: 113,506,003 (GRCm39) C2377W probably damaging Het
Dact3 A C 7: 16,617,086 (GRCm39) Q95P probably damaging Het
Dennd2c T C 3: 103,056,540 (GRCm39) probably null Het
Dock2 G T 11: 34,182,874 (GRCm39) H1586Q probably damaging Het
Dst T C 1: 34,221,771 (GRCm39) M2525T probably benign Het
Egflam T C 15: 7,261,176 (GRCm39) H786R probably damaging Het
Eml6 T C 11: 29,759,321 (GRCm39) T811A probably benign Het
Epha1 T C 6: 42,343,106 (GRCm39) T148A probably damaging Het
Fsip1 A C 2: 118,067,406 (GRCm39) S306A probably damaging Het
Gga2 A T 7: 121,607,661 (GRCm39) probably null Het
Gm10801 C CGTT 2: 98,494,152 (GRCm39) probably benign Het
Gm9837 T A 11: 53,360,885 (GRCm39) probably benign Het
Gnl2 A T 4: 124,940,058 (GRCm39) Q310L probably damaging Het
H2-M1 T C 17: 36,982,701 (GRCm39) D53G probably benign Het
Hmcn2 T A 2: 31,259,269 (GRCm39) D1036E probably damaging Het
Htr3a A T 9: 48,811,871 (GRCm39) D381E probably benign Het
Igdcc4 G A 9: 65,042,400 (GRCm39) G106R probably damaging Het
Igfbp2 A G 1: 72,864,078 (GRCm39) T114A probably damaging Het
Ints14 A G 9: 64,885,406 (GRCm39) probably null Het
Kcnt1 T A 2: 25,799,251 (GRCm39) M906K possibly damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lars2 A G 9: 123,200,990 (GRCm39) Q18R probably benign Het
Mndal C T 1: 173,698,999 (GRCm39) C222Y possibly damaging Het
Msto1 C T 3: 88,812,781 (GRCm39) A1854V possibly damaging Het
Musk G A 4: 58,286,169 (GRCm39) G20R probably benign Het
Or6c215 G T 10: 129,638,013 (GRCm39) P127Q probably damaging Het
Oxct1 G T 15: 4,056,309 (GRCm39) S19I possibly damaging Het
Papss2 G A 19: 32,641,876 (GRCm39) G517D probably damaging Het
Parp14 T C 16: 35,676,918 (GRCm39) S1017G probably benign Het
Pde2a A G 7: 101,150,242 (GRCm39) Q227R probably benign Het
Pdlim5 G T 3: 142,020,183 (GRCm39) P92Q probably damaging Het
Pkd1l3 C T 8: 110,350,595 (GRCm39) T480I probably benign Het
Pla2g4c C T 7: 13,077,933 (GRCm39) T357I probably benign Het
Ppp3ca A G 3: 136,583,531 (GRCm39) R213G possibly damaging Het
Pramel18 G A 4: 101,767,189 (GRCm39) R146H probably benign Het
Prrc1 C T 18: 57,495,619 (GRCm39) S32L probably null Het
Prss47 C T 13: 65,197,116 (GRCm39) V207I probably benign Het
Prtg G A 9: 72,819,414 (GRCm39) V1136I possibly damaging Het
Psmb8 T A 17: 34,418,265 (GRCm39) M69K possibly damaging Het
Rb1 A T 14: 73,436,636 (GRCm39) D876E probably damaging Het
Rnasel T C 1: 153,637,867 (GRCm39) M680T probably damaging Het
Rnf111 G T 9: 70,383,692 (GRCm39) N80K possibly damaging Het
Senp1 C T 15: 97,946,074 (GRCm39) C557Y probably damaging Het
Serpina3a A T 12: 104,082,710 (GRCm39) Y161F probably damaging Het
Serpinb11 A T 1: 107,299,781 (GRCm39) probably null Het
Sgpl1 C A 10: 60,947,936 (GRCm39) probably null Het
Slc37a4 A G 9: 44,310,576 (GRCm39) Y60C probably damaging Het
Slc38a10 A G 11: 120,015,208 (GRCm39) S381P probably benign Het
Slc5a7 C T 17: 54,585,849 (GRCm39) V323I probably damaging Het
Slco1a7 T A 6: 141,668,818 (GRCm39) probably null Het
Smarcal1 A T 1: 72,655,716 (GRCm39) E665V possibly damaging Het
Specc1 C A 11: 62,023,164 (GRCm39) N736K probably damaging Het
Tas2r121 T C 6: 132,677,495 (GRCm39) Y159C probably benign Het
Tex54 A G 19: 8,718,462 (GRCm39) D68G probably benign Het
Trank1 A G 9: 111,196,268 (GRCm39) I1431V probably damaging Het
Ttll6 T C 11: 96,047,414 (GRCm39) V671A probably benign Het
Ttn A T 2: 76,748,931 (GRCm39) probably benign Het
Uimc1 T C 13: 55,188,389 (GRCm39) T557A possibly damaging Het
Uri1 C A 7: 37,661,974 (GRCm39) V446L probably benign Het
Vpreb1b C T 16: 17,798,771 (GRCm39) R86C probably damaging Het
Vwa8 A G 14: 79,331,184 (GRCm39) K1231E probably benign Het
Xcr1 G A 9: 123,684,854 (GRCm39) R303C probably damaging Het
Zfp619 C A 7: 39,186,454 (GRCm39) A828E possibly damaging Het
Zfp687 T C 3: 94,915,049 (GRCm39) S1151G possibly damaging Het
Other mutations in Cct8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02054:Cct8 APN 16 87,287,364 (GRCm39) splice site probably benign
IGL02975:Cct8 APN 16 87,283,118 (GRCm39) splice site probably benign
IGL03015:Cct8 APN 16 87,283,553 (GRCm39) splice site probably benign
IGL03191:Cct8 APN 16 87,283,198 (GRCm39) missense probably damaging 1.00
PIT4151001:Cct8 UTSW 16 87,284,545 (GRCm39) missense probably damaging 1.00
R0479:Cct8 UTSW 16 87,284,594 (GRCm39) missense probably damaging 1.00
R0972:Cct8 UTSW 16 87,283,508 (GRCm39) missense possibly damaging 0.94
R1368:Cct8 UTSW 16 87,288,200 (GRCm39) missense probably damaging 0.99
R1544:Cct8 UTSW 16 87,288,342 (GRCm39) splice site probably benign
R1548:Cct8 UTSW 16 87,282,472 (GRCm39) missense probably damaging 0.99
R1823:Cct8 UTSW 16 87,287,442 (GRCm39) nonsense probably null
R2303:Cct8 UTSW 16 87,287,220 (GRCm39) splice site probably null
R3076:Cct8 UTSW 16 87,285,765 (GRCm39) missense possibly damaging 0.84
R3078:Cct8 UTSW 16 87,285,765 (GRCm39) missense possibly damaging 0.84
R4094:Cct8 UTSW 16 87,284,516 (GRCm39) missense possibly damaging 0.94
R4713:Cct8 UTSW 16 87,284,576 (GRCm39) nonsense probably null
R5031:Cct8 UTSW 16 87,284,426 (GRCm39) missense probably damaging 0.99
R5687:Cct8 UTSW 16 87,285,709 (GRCm39) missense probably benign 0.00
R6325:Cct8 UTSW 16 87,292,615 (GRCm39) critical splice donor site probably null
R6391:Cct8 UTSW 16 87,284,566 (GRCm39) missense probably benign 0.00
R7252:Cct8 UTSW 16 87,281,807 (GRCm39) missense probably benign 0.01
R7570:Cct8 UTSW 16 87,288,210 (GRCm39) missense probably benign 0.18
R8397:Cct8 UTSW 16 87,290,651 (GRCm39) missense possibly damaging 0.95
R8766:Cct8 UTSW 16 87,285,756 (GRCm39) missense probably damaging 0.97
R9309:Cct8 UTSW 16 87,282,592 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGTATTAACTCCATCATCTACTGCC -3'
(R):5'- CAAAGTGGGATCTCAGACGAC -3'

Sequencing Primer
(F):5'- CATCAGATTGTCTGTAGAACCTCG -3'
(R):5'- AGATGGGTGAATACATTTGAA -3'
Posted On 2018-05-04