Incidental Mutation 'R7458:Cct7'
ID 578247
Institutional Source Beutler Lab
Gene Symbol Cct7
Ensembl Gene ENSMUSG00000030007
Gene Name chaperonin containing TCP1 subunit 7
Synonyms Cctz, Ccth
MMRRC Submission 045532-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R7458 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 85428496-85445457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85436978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 72 (V72A)
Ref Sequence ENSEMBL: ENSMUSP00000032078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032078] [ENSMUST00000204489] [ENSMUST00000204592]
AlphaFold P80313
Predicted Effect probably benign
Transcript: ENSMUST00000032078
AA Change: V72A

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032078
Gene: ENSMUSG00000030007
AA Change: V72A

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 32 524 1.8e-163 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204489
SMART Domains Protein: ENSMUSP00000144919
Gene: ENSMUSG00000030007

DomainStartEndE-ValueType
PDB:4B2T|H 1 53 2e-29 PDB
Blast:VWA 5 51 4e-7 BLAST
SCOP:d1a6da1 16 51 2e-8 SMART
low complexity region 68 80 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000204592
AA Change: V72A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144893
Gene: ENSMUSG00000030007
AA Change: V72A

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 32 91 6e-21 PFAM
Pfam:Cpn60_TCP1 88 482 5e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204612
Meta Mutation Damage Score 0.1000 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes 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. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C T 5: 113,338,510 (GRCm39) V501M probably benign Het
Abca13 T C 11: 9,240,777 (GRCm39) F880S possibly damaging Het
AI182371 T A 2: 34,976,516 (GRCm39) R206S possibly damaging Het
Akr1a1 A T 4: 116,495,014 (GRCm39) M286K possibly damaging Het
Aldh8a1 A G 10: 21,271,492 (GRCm39) E406G possibly damaging Het
Ambra1 T A 2: 91,748,029 (GRCm39) V1255D probably benign Het
Apol7e C T 15: 77,598,604 (GRCm39) T23I probably benign Het
Armh4 T C 14: 49,920,196 (GRCm39) Y711C probably damaging Het
Boc T C 16: 44,307,119 (GRCm39) E1034G Het
Bricd5 T C 17: 24,693,476 (GRCm39) I39T probably damaging Het
Ccne1 T C 7: 37,800,096 (GRCm39) T163A probably damaging Het
Cdh3 A G 8: 107,263,779 (GRCm39) D199G probably damaging Het
Clip1 T G 5: 123,778,609 (GRCm39) E438A probably damaging Het
Col4a4 T C 1: 82,476,669 (GRCm39) I553M unknown Het
Csmd1 A T 8: 16,003,738 (GRCm39) N2605K probably damaging Het
Dnajc10 T A 2: 80,155,094 (GRCm39) probably null Het
Fbn1 T A 2: 125,161,036 (GRCm39) D2168V probably benign Het
G2e3 T A 12: 51,412,290 (GRCm39) N443K possibly damaging Het
Gak T C 5: 108,730,940 (GRCm39) D822G probably benign Het
Gm9493 A G 19: 23,597,277 (GRCm39) I58V probably benign Het
Gpr65 T G 12: 98,242,324 (GRCm39) S326A probably damaging Het
Irs2 T C 8: 11,057,739 (GRCm39) E231G probably damaging Het
Itga1 T C 13: 115,122,802 (GRCm39) D718G probably benign Het
Itih1 T C 14: 30,665,223 (GRCm39) M1V probably null Het
Lgr5 A G 10: 115,293,660 (GRCm39) probably null Het
Lipn A G 19: 34,049,242 (GRCm39) N136S probably benign Het
Lrrc37a G A 11: 103,388,258 (GRCm39) T2389I unknown Het
Myo7b G A 18: 32,121,604 (GRCm39) A767V possibly damaging Het
Necab1 A T 4: 15,111,244 (GRCm39) S61R possibly damaging Het
Or5m8 A G 2: 85,822,994 (GRCm39) T278A probably damaging Het
Phyhip G A 14: 70,699,260 (GRCm39) R21H probably damaging Het
Pls1 G A 9: 95,667,560 (GRCm39) T116I probably damaging Het
Pnn C A 12: 59,119,200 (GRCm39) S594R unknown Het
Psen1 T A 12: 83,761,540 (GRCm39) I114N probably damaging Het
Rhox8 GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT X: 36,966,991 (GRCm39) probably benign Het
Slc12a7 T A 13: 73,933,188 (GRCm39) V82E probably damaging Het
Slc25a44 A G 3: 88,323,368 (GRCm39) I246T probably benign Het
Slc2a13 T A 15: 91,296,390 (GRCm39) Y308F probably benign Het
Sntb2 C A 8: 107,662,930 (GRCm39) A166E possibly damaging Het
Tas2r135 T A 6: 42,382,881 (GRCm39) V140D possibly damaging Het
Tdrd6 T C 17: 43,935,937 (GRCm39) T1704A probably benign Het
Txndc12 A G 4: 108,718,606 (GRCm39) D159G probably benign Het
Ubash3a T C 17: 31,427,139 (GRCm39) L16P probably benign Het
Usp4 T C 9: 108,245,055 (GRCm39) L331P probably damaging Het
Vmn2r108 T C 17: 20,692,532 (GRCm39) D108G probably benign Het
Vmn2r58 C A 7: 41,487,123 (GRCm39) A591S probably benign Het
Wdpcp T C 11: 21,698,919 (GRCm39) I566T probably damaging Het
Zfp866 T A 8: 70,218,202 (GRCm39) K473* probably null Het
Other mutations in Cct7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02223:Cct7 APN 6 85,439,023 (GRCm39) missense probably benign 0.00
IGL02292:Cct7 APN 6 85,438,091 (GRCm39) missense probably benign 0.03
IGL02724:Cct7 APN 6 85,436,131 (GRCm39) missense probably damaging 1.00
IGL02740:Cct7 APN 6 85,445,252 (GRCm39) missense probably benign
PIT4495001:Cct7 UTSW 6 85,436,943 (GRCm39) missense probably damaging 1.00
R0184:Cct7 UTSW 6 85,438,536 (GRCm39) missense probably null 0.55
R1363:Cct7 UTSW 6 85,443,017 (GRCm39) missense probably damaging 1.00
R1378:Cct7 UTSW 6 85,444,545 (GRCm39) splice site probably null
R2076:Cct7 UTSW 6 85,445,122 (GRCm39) missense probably damaging 0.98
R2210:Cct7 UTSW 6 85,436,212 (GRCm39) missense probably damaging 1.00
R3905:Cct7 UTSW 6 85,443,690 (GRCm39) missense possibly damaging 0.90
R4298:Cct7 UTSW 6 85,445,155 (GRCm39) missense probably damaging 1.00
R4422:Cct7 UTSW 6 85,444,127 (GRCm39) missense probably damaging 0.98
R6519:Cct7 UTSW 6 85,439,132 (GRCm39) missense probably benign 0.19
R6903:Cct7 UTSW 6 85,443,675 (GRCm39) missense probably benign 0.27
R6925:Cct7 UTSW 6 85,436,164 (GRCm39) missense probably damaging 1.00
R7133:Cct7 UTSW 6 85,443,627 (GRCm39) missense probably benign 0.02
R8133:Cct7 UTSW 6 85,438,045 (GRCm39) missense probably damaging 1.00
R9516:Cct7 UTSW 6 85,444,625 (GRCm39) missense possibly damaging 0.86
Z1177:Cct7 UTSW 6 85,443,651 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- TGTGGTCAGTTAACCTGTACTC -3'
(R):5'- ACAGTGTCACGCTCACATG -3'

Sequencing Primer
(F):5'- ATTCCCAGCAACTACGTGGTG -3'
(R):5'- CTCTGTAAATACAAGGTCAGCCTGG -3'
Posted On 2019-10-07