Incidental Mutation 'IGL02488:Cct6a'
ID295529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cct6a
Ensembl Gene ENSMUSG00000029447
Gene Namechaperonin containing Tcp1, subunit 6a (zeta)
SynonymsCctz-1, chaperonin containing TCP-1, Cct6
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.939) question?
Stock #IGL02488
Quality Score
Status
Chromosome5
Chromosomal Location129787439-129845820 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to G at 129789821 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031399] [ENSMUST00000136507]
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: ENSMUST00000201414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202854
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
Adam5 C T 8: 24,792,006 D417N probably damaging Het
Akr1d1 A T 6: 37,567,160 E324D probably benign Het
Ankrd34a A G 3: 96,598,913 I478V probably benign Het
C8b A G 4: 104,804,081 H498R probably benign Het
Enpp7 C A 11: 118,988,814 T98N probably damaging Het
Fcna A T 2: 25,625,211 probably null Het
Gtdc1 A G 2: 44,825,439 Y31H probably benign Het
Gzme A T 14: 56,118,392 N154K probably benign Het
Hectd4 T C 5: 121,292,087 V849A probably benign Het
Hps1 C T 19: 42,757,788 probably benign Het
Incenp A T 19: 9,893,407 I286N unknown Het
Matn1 G T 4: 130,944,493 V24F probably benign Het
Mcm3ap A G 10: 76,499,649 T1302A probably damaging Het
Megf10 A G 18: 57,292,632 Y1030C probably damaging Het
Mpdu1 T C 11: 69,658,609 T87A probably damaging Het
Olfr347 T A 2: 36,734,350 S10T probably benign Het
Olfr648 T A 7: 104,180,271 I46F possibly damaging Het
Pde6h A G 6: 136,963,266 probably null Het
Pkhd1l1 A G 15: 44,558,597 I3088V probably benign Het
Plec G T 15: 76,179,159 T2259K possibly damaging Het
Ptch2 C T 4: 117,110,396 R754C probably damaging Het
Ptpn12 T C 5: 21,022,062 T81A possibly damaging Het
Sars2 C T 7: 28,742,160 R49* probably null Het
Scyl1 G T 19: 5,770,313 Y164* probably null Het
Smarcd1 T C 15: 99,711,201 C419R possibly damaging Het
Syne2 C A 12: 75,965,738 R2568S probably benign Het
Tap2 A G 17: 34,214,642 probably benign Het
Thrb T A 14: 18,033,455 I406K probably damaging Het
Tnn T A 1: 160,140,593 I410F probably benign Het
Tns2 T C 15: 102,112,743 S940P probably benign Het
Trav6-2 A G 14: 52,667,786 K88R probably benign Het
Ttbk2 T C 2: 120,755,871 M386V probably benign Het
Vldlr A G 19: 27,238,275 E224G probably damaging Het
Vmn1r46 T A 6: 89,976,981 C271S probably benign Het
Zfhx2 T C 14: 55,065,103 E1808G possibly damaging Het
Zfp385a A G 15: 103,320,306 I42T probably damaging Het
Other mutations in Cct6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Cct6a APN 5 129791793 unclassified probably benign
R0666:Cct6a UTSW 5 129794386 unclassified noncoding transcript
R5195:Cct6a UTSW 5 129794655 unclassified noncoding transcript
Posted On2015-04-16