Incidental Mutation 'IGL00980:Cct6a'
ID 306649
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cct6a
Ensembl Gene ENSMUSG00000029447
Gene Name chaperonin containing TCP1 subunit 6A
Synonyms chaperonin containing TCP-1, Cct6, Cctz-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # IGL00980
Quality Score
Status
Chromosome 5
Chromosomal Location 129864420-129875284 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 129868856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031399] [ENSMUST00000136507]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031399
SMART Domains Protein: ENSMUSP00000031399
Gene: ENSMUSG00000029446

DomainStartEndE-ValueType
Pfam:Hydrolase 14 191 5.7e-19 PFAM
Pfam:HAD 17 187 4e-13 PFAM
Pfam:UMPH-1 62 192 5.4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000031402
SMART Domains Protein: ENSMUSP00000031402
Gene: ENSMUSG00000029447

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
Pfam:Cpn60_TCP1 30 527 9.9e-153 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083370
Predicted Effect probably benign
Transcript: ENSMUST00000136507
SMART Domains Protein: ENSMUSP00000116292
Gene: ENSMUSG00000029446

DomainStartEndE-ValueType
PDB:1NNL|B 1 59 1e-32 PDB
SCOP:d1j97a_ 15 58 2e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202854
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202374
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is 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. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, several pseudogenes of this gene have been located. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,293,977 (GRCm39) Y283* probably null Het
Bend3 C A 10: 43,387,562 (GRCm39) Q652K probably damaging Het
Bltp1 C T 3: 37,054,190 (GRCm39) T3103I probably damaging Het
Ccdc136 G A 6: 29,420,257 (GRCm39) S992N probably damaging Het
Cd74 A T 18: 60,944,398 (GRCm39) I203F probably benign Het
Cd8b1 C A 6: 71,309,463 (GRCm39) C182* probably null Het
Cmtr1 T A 17: 29,910,258 (GRCm39) D454E probably benign Het
Cyp2b13 T A 7: 25,781,152 (GRCm39) F188Y probably benign Het
Dppa2 T C 16: 48,132,049 (GRCm39) S49P possibly damaging Het
Fhl5 G T 4: 25,207,181 (GRCm39) L196I possibly damaging Het
Gimap4 T A 6: 48,667,872 (GRCm39) V81D probably damaging Het
Gm4884 T G 7: 40,693,150 (GRCm39) M373R probably damaging Het
Gnrhr C T 5: 86,345,162 (GRCm39) probably null Het
H2-Oa T G 17: 34,313,537 (GRCm39) L196R probably damaging Het
Icosl T C 10: 77,907,805 (GRCm39) S122P probably damaging Het
Itpr3 A G 17: 27,329,930 (GRCm39) T1575A probably benign Het
Krt80 T C 15: 101,247,879 (GRCm39) K373E possibly damaging Het
Lamp1 G A 8: 13,221,195 (GRCm39) probably benign Het
Npvf T C 6: 50,627,865 (GRCm39) K185E probably damaging Het
Nuf2 A G 1: 169,338,003 (GRCm39) M258T probably damaging Het
Or6b2 T C 1: 92,407,402 (GRCm39) probably null Het
Or8b36 G A 9: 37,937,107 (GRCm39) V2I probably benign Het
Smurf2 A C 11: 106,726,921 (GRCm39) I469S probably damaging Het
Soat1 T A 1: 156,268,911 (GRCm39) H180L probably benign Het
Spink5 G T 18: 44,140,777 (GRCm39) D659Y probably damaging Het
Sprtn T C 8: 125,627,037 (GRCm39) M139T probably damaging Het
Tas2r140 T C 6: 40,468,352 (GRCm39) S61P possibly damaging Het
Tec G A 5: 72,944,141 (GRCm39) L89F probably damaging Het
Trav21-dv12 A T 14: 54,114,107 (GRCm39) M76L probably benign Het
Ttc7 A C 17: 87,628,874 (GRCm39) T271P possibly damaging Het
Tyk2 G A 9: 21,031,884 (GRCm39) T397I probably benign Het
Ugt1a6b T A 1: 88,035,327 (GRCm39) Y222N possibly damaging Het
Vmn2r2 A T 3: 64,024,601 (GRCm39) M660K probably benign Het
Vmn2r52 T A 7: 9,905,017 (GRCm39) Y274F probably damaging Het
Wscd1 A C 11: 71,679,768 (GRCm39) N547T possibly damaging Het
Zfp335 C A 2: 164,744,594 (GRCm39) E394* probably null Het
Other mutations in Cct6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02488:Cct6a APN 5 129,866,885 (GRCm39) unclassified probably benign
R0666:Cct6a UTSW 5 129,871,449 (GRCm39) unclassified noncoding transcript
R5195:Cct6a UTSW 5 129,871,718 (GRCm39) unclassified noncoding transcript
Posted On 2015-04-16