Incidental Mutation 'R0972:Cct8'
ID 82903
Institutional Source Beutler Lab
Gene Symbol Cct8
Ensembl Gene ENSMUSG00000025613
Gene Name chaperonin containing TCP1 subunit 8
Synonyms Tcpq, Cctq
MMRRC Submission 039101-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R0972 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 87280213-87292757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87283508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 269 (V269A)
Ref Sequence ENSEMBL: ENSMUSP00000135651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026704] [ENSMUST00000026710] [ENSMUST00000119504] [ENSMUST00000144759] [ENSMUST00000175977] [ENSMUST00000176750] [ENSMUST00000177376] [ENSMUST00000176041]
AlphaFold P42932
Predicted Effect possibly damaging
Transcript: ENSMUST00000026704
AA Change: V328A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026704
Gene: ENSMUSG00000025613
AA Change: V328A

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: V86A
SMART Domains Protein: ENSMUSP00000134920
Gene: ENSMUSG00000025613
AA Change: V86A

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 1 238 1.2e-69 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000175977
AA Change: V269A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135651
Gene: ENSMUSG00000025613
AA Change: V269A

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: ENSMUST00000177275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177301
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 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
Meta Mutation Damage Score 0.2712 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 97% (72/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G A 8: 41,208,168 (GRCm39) R478Q probably damaging Het
Adgrf5 A T 17: 43,761,874 (GRCm39) S1190C probably damaging Het
Akr1a1 T C 4: 116,497,204 (GRCm39) probably null Het
Bco2 A T 9: 50,447,615 (GRCm39) D369E probably benign Het
Blm A T 7: 80,163,118 (GRCm39) S78T probably benign Het
Brsk2 C G 7: 141,547,441 (GRCm39) probably benign Het
Cdh12 A T 15: 21,237,850 (GRCm39) Q28H probably benign Het
Cep290 A G 10: 100,354,624 (GRCm39) T896A probably benign Het
Chrm2 T A 6: 36,501,401 (GRCm39) N419K possibly damaging Het
Clasp2 A T 9: 113,676,773 (GRCm39) H168L possibly damaging Het
Cog3 A T 14: 75,954,610 (GRCm39) M643K probably benign Het
Col6a5 A G 9: 105,817,484 (GRCm39) S276P unknown Het
Colgalt2 T C 1: 152,347,495 (GRCm39) V143A probably damaging Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cwc27 C A 13: 104,797,865 (GRCm39) E365* probably null Het
Ddx56 A T 11: 6,217,718 (GRCm39) M1K probably null Het
Dnah3 C T 7: 119,634,563 (GRCm39) probably null Het
Dnah6 T C 6: 73,136,176 (GRCm39) T988A possibly damaging Het
Esp15 T A 17: 39,953,557 (GRCm39) F15I possibly damaging Het
Fam237b T A 5: 5,625,512 (GRCm39) D69E probably benign Het
Fbh1 C T 2: 11,768,899 (GRCm39) probably benign Het
Gucy1b2 A T 14: 62,646,127 (GRCm39) I572N possibly damaging Het
Gucy1b2 T C 14: 62,651,818 (GRCm39) I393V possibly damaging Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Herc1 C A 9: 66,279,427 (GRCm39) R112S probably damaging Het
Itga7 G A 10: 128,778,746 (GRCm39) R291H probably damaging Het
Jag1 A G 2: 136,925,371 (GRCm39) L1077S possibly damaging Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Klrc2 T C 6: 129,635,726 (GRCm39) Y134C probably damaging Het
Map2k2 C A 10: 80,955,482 (GRCm39) D67E probably benign Het
Mest G A 6: 30,740,683 (GRCm39) W14* probably null Het
Mier2 A G 10: 79,380,455 (GRCm39) probably benign Het
Mog A G 17: 37,328,424 (GRCm39) V169A probably benign Het
Mov10l1 T C 15: 88,905,482 (GRCm39) V879A probably damaging Het
Mrgpra9 A G 7: 46,885,203 (GRCm39) S155P probably damaging Het
Mtmr10 A G 7: 63,976,457 (GRCm39) D418G probably damaging Het
Mtpn T C 6: 35,498,911 (GRCm39) D58G probably null Het
Myh8 A G 11: 67,188,585 (GRCm39) R1056G probably damaging Het
Nek1 T A 8: 61,542,465 (GRCm39) probably null Het
Or4k38 T C 2: 111,165,763 (GRCm39) Y220C probably benign Het
Or5al7 A C 2: 85,992,648 (GRCm39) L215R possibly damaging Het
Or8b36 T A 9: 37,937,856 (GRCm39) F251L possibly damaging Het
Pcnx1 G A 12: 81,960,186 (GRCm39) D181N probably damaging Het
Pdzrn4 A G 15: 92,655,592 (GRCm39) D495G probably benign Het
Plppr3 A G 10: 79,700,920 (GRCm39) S641P probably damaging Het
Pramel11 T A 4: 143,623,533 (GRCm39) T214S probably benign Het
Prelp A T 1: 133,842,414 (GRCm39) Y244N probably damaging Het
Prg2 C A 2: 84,812,393 (GRCm39) N34K probably benign Het
Ptp4a1 A G 1: 30,984,080 (GRCm39) V46A possibly damaging Het
Rpl6 A G 5: 121,346,565 (GRCm39) D222G possibly damaging Het
Rtp1 A T 16: 23,250,058 (GRCm39) D141V probably damaging Het
Sacs T A 14: 61,449,412 (GRCm39) Y3819* probably null Het
Serinc5 A G 13: 92,825,128 (GRCm39) T186A probably benign Het
Slc15a2 A G 16: 36,577,501 (GRCm39) S422P probably benign Het
Slc2a8 A T 2: 32,865,379 (GRCm39) V366D probably benign Het
Smarca1 T C X: 46,938,864 (GRCm39) R715G possibly damaging Het
Spdef C T 17: 27,933,997 (GRCm39) A275T probably damaging Het
Tcf21 T C 10: 22,695,621 (GRCm39) K61R probably benign Het
Tep1 A G 14: 51,061,753 (GRCm39) probably benign Het
Thada G A 17: 84,736,490 (GRCm39) probably benign Het
Thap11 T A 8: 106,582,810 (GRCm39) I273N probably damaging Het
Tmem129 T A 5: 33,812,112 (GRCm39) E262V possibly damaging Het
Tnxb A G 17: 34,904,117 (GRCm39) Y1086C probably damaging Het
Togaram2 A G 17: 72,014,309 (GRCm39) Y619C probably damaging Het
Top1 C T 2: 160,562,945 (GRCm39) A717V probably damaging Het
Trpm7 G A 2: 126,646,969 (GRCm39) P1507S probably benign Het
Ubr2 A T 17: 47,245,187 (GRCm39) probably null Het
Usp30 T C 5: 114,249,925 (GRCm39) probably benign Het
Vmn1r3 T A 4: 3,185,125 (GRCm39) I61F probably damaging Het
Zbtb22 C T 17: 34,136,326 (GRCm39) T157I possibly damaging Het
Zfp677 A T 17: 21,618,572 (GRCm39) H543L probably damaging Het
Zranb3 G T 1: 127,884,383 (GRCm39) P1001Q probably 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
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
R6395:Cct8 UTSW 16 87,283,364 (GRCm39) nonsense probably null
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'- CCACACTCTGCAACAGCCTTGTTAC -3'
(R):5'- ACTAGCCTGGCCTATGAGATCTGC -3'

Sequencing Primer
(F):5'- TGACAGGTTGTTAGAACCACC -3'
(R):5'- CCTATGAGATCTGCTGGTCTG -3'
Posted On 2013-11-08