Incidental Mutation 'IGL02223:Cct7'
ID 285245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cct7
Ensembl Gene ENSMUSG00000030007
Gene Name chaperonin containing TCP1 subunit 7
Synonyms Cctz, Ccth
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL02223
Quality Score
Status
Chromosome 6
Chromosomal Location 85428496-85445457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85439023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 112 (M112I)
Ref Sequence ENSEMBL: ENSMUSP00000144893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032078] [ENSMUST00000204489] [ENSMUST00000204592]
AlphaFold P80313
Predicted Effect probably benign
Transcript: ENSMUST00000032078
AA Change: M154I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032078
Gene: ENSMUSG00000030007
AA Change: M154I

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 benign
Transcript: ENSMUST00000204592
AA Change: M112I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000144893
Gene: ENSMUSG00000030007
AA Change: M112I

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 32 91 6e-21 PFAM
Pfam:Cpn60_TCP1 88 482 5e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205143
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,506,909 (GRCm39) W1148* probably null Het
Adam17 A G 12: 21,411,706 (GRCm39) S62P possibly damaging Het
Akap8 T C 17: 32,535,621 (GRCm39) Y131C probably damaging Het
Ccdc169 A G 3: 55,049,721 (GRCm39) N48S probably benign Het
Ccdc80 A G 16: 44,915,966 (GRCm39) T241A probably damaging Het
Cftr G A 6: 18,221,481 (GRCm39) A198T probably damaging Het
Crk T C 11: 75,594,205 (GRCm39) V264A probably damaging Het
Dhx34 T C 7: 15,932,584 (GRCm39) T1071A probably benign Het
Dlst A G 12: 85,177,692 (GRCm39) I362V probably benign Het
Fat2 T C 11: 55,163,955 (GRCm39) E3100G probably benign Het
Fbxo11 A G 17: 88,316,714 (GRCm39) V323A probably benign Het
Foxe3 C A 4: 114,782,906 (GRCm39) R102L probably damaging Het
Gale T C 4: 135,693,817 (GRCm39) F162S probably damaging Het
Gipc2 G A 3: 151,833,687 (GRCm39) P198L probably damaging Het
Gm5258 A G 1: 86,251,118 (GRCm39) noncoding transcript Het
Gpatch11 A G 17: 79,152,608 (GRCm39) T259A probably benign Het
H2-M10.3 T C 17: 36,678,972 (GRCm39) N32S possibly damaging Het
Hdlbp T C 1: 93,340,171 (GRCm39) I999V probably damaging Het
Ibtk A G 9: 85,592,419 (GRCm39) probably benign Het
Ift46 A G 9: 44,697,609 (GRCm39) S165G probably damaging Het
Igsf1 A G X: 48,873,897 (GRCm39) S389P probably damaging Het
Lrrd1 A C 5: 3,900,211 (GRCm39) N172T probably benign Het
Mamdc2 G A 19: 23,336,507 (GRCm39) probably benign Het
Matn2 A G 15: 34,423,864 (GRCm39) N574S probably benign Het
Med1 T C 11: 98,048,702 (GRCm39) D683G probably damaging Het
Mon1a A G 9: 107,778,484 (GRCm39) E236G probably damaging Het
Moxd2 T A 6: 40,861,967 (GRCm39) I202F probably damaging Het
Nif3l1 T A 1: 58,487,202 (GRCm39) Y129* probably null Het
Nlrp5 T C 7: 23,129,447 (GRCm39) probably benign Het
Odad3 G A 9: 21,904,908 (GRCm39) R293C probably damaging Het
Or5k14 C T 16: 58,693,057 (GRCm39) G152E probably damaging Het
Pcx T C 19: 4,652,006 (GRCm39) Y84H probably damaging Het
Pom121l2 T C 13: 22,166,265 (GRCm39) S179P probably benign Het
Rexo4 C A 2: 26,845,511 (GRCm39) C369F probably damaging Het
Rigi T C 4: 40,209,993 (GRCm39) N692D possibly damaging Het
Scmh1 C A 4: 120,372,416 (GRCm39) H406Q probably benign Het
Slc12a8 A G 16: 33,445,060 (GRCm39) D372G probably damaging Het
Snip1 T C 4: 124,966,545 (GRCm39) F325S possibly damaging Het
Spr-ps1 C T 6: 85,132,181 (GRCm39) noncoding transcript Het
Stk36 A G 1: 74,662,496 (GRCm39) Y538C possibly damaging Het
Svil A G 18: 5,105,879 (GRCm39) probably benign Het
Syne2 A G 12: 76,155,079 (GRCm39) T6787A probably benign Het
Tbcel T G 9: 42,363,014 (GRCm39) M10L probably benign Het
Tesk2 T A 4: 116,599,022 (GRCm39) Y43* probably null Het
Tjp1 C T 7: 64,972,349 (GRCm39) R605Q probably damaging Het
Tmem65 A G 15: 58,662,000 (GRCm39) probably benign Het
Tnnt2 A G 1: 135,769,753 (GRCm39) probably benign Het
Trmt44 T C 5: 35,731,989 (GRCm39) E134G probably benign Het
Trpv2 T C 11: 62,472,081 (GRCm39) L91P probably benign Het
Ttn G A 2: 76,807,463 (GRCm39) T90I probably damaging Het
Yy1 A G 12: 108,759,466 (GRCm39) E43G unknown Het
Other mutations in Cct7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7458:Cct7 UTSW 6 85,436,978 (GRCm39) missense probably benign 0.14
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
Posted On 2015-04-16