Incidental Mutation 'IGL03081:Cct6b'
ID417883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cct6b
Ensembl Gene ENSMUSG00000020698
Gene Namechaperonin containing Tcp1, subunit 6b (zeta)
SynonymsCCTzeta-2, Cctz-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.302) question?
Stock #IGL03081
Quality Score
Status
Chromosome11
Chromosomal Location82719250-82764321 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 82764169 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 20 (L20*)
Ref Sequence ENSEMBL: ENSMUSP00000021040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021040] [ENSMUST00000056677] [ENSMUST00000100722]
Predicted Effect probably null
Transcript: ENSMUST00000021040
AA Change: L20*
SMART Domains Protein: ENSMUSP00000021040
Gene: ENSMUSG00000020698
AA Change: L20*

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 30 526 1.1e-161 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056677
SMART Domains Protein: ENSMUSP00000056154
Gene: ENSMUSG00000046010

DomainStartEndE-ValueType
coiled coil region 13 40 N/A INTRINSIC
Blast:ZnF_U1 48 82 4e-10 BLAST
low complexity region 129 143 N/A INTRINSIC
low complexity region 156 167 N/A INTRINSIC
coiled coil region 303 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100722
SMART Domains Protein: ENSMUSP00000098288
Gene: ENSMUSG00000020698

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 4 486 9.7e-140 PFAM
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. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 C A 19: 43,782,402 probably benign Het
Acan T G 7: 79,098,543 S1021A probably benign Het
Adamts6 A G 13: 104,444,956 probably benign Het
Apc2 A G 10: 80,312,252 K1018E probably damaging Het
Arhgef28 A T 13: 98,029,373 probably benign Het
Atp2b1 T C 10: 98,994,813 probably benign Het
Cd300ld2 G A 11: 115,012,542 probably benign Het
Cdc23 T G 18: 34,636,704 K454T probably damaging Het
Cdh20 A T 1: 104,941,257 I158F probably damaging Het
Cdk14 C T 5: 4,949,527 probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Clec2i A T 6: 128,894,765 Y113F probably damaging Het
Dmpk T A 7: 19,087,533 S239T probably damaging Het
Dnah8 T C 17: 30,686,373 probably benign Het
Exoc2 A G 13: 30,900,902 Y359H probably benign Het
Eya1 A T 1: 14,183,191 F520L possibly damaging Het
Fgfr1op2 A T 6: 146,597,319 I217F probably damaging Het
Gm12258 A G 11: 58,858,259 N87D probably benign Het
Gp6 A G 7: 4,371,648 S225P probably benign Het
Hdac7 T C 15: 97,798,306 Y619C probably damaging Het
Lars A G 18: 42,210,091 I1087T probably benign Het
Lrrc37a G T 11: 103,456,595 H3091Q unknown Het
Mcm3ap T C 10: 76,470,316 S88P possibly damaging Het
Mrps23 G A 11: 88,210,217 R117Q probably benign Het
Nbea T C 3: 56,079,918 S384G probably damaging Het
Ndufs4 A T 13: 114,307,837 I135N possibly damaging Het
Noto T C 6: 85,424,109 F40S probably damaging Het
Nr5a1 A T 2: 38,710,532 V41D possibly damaging Het
Olfr914 C T 9: 38,606,870 A135V probably benign Het
Papola T A 12: 105,818,855 H415Q probably damaging Het
Pcm1 C T 8: 41,275,060 T557I probably damaging Het
Pde11a A T 2: 76,075,930 probably benign Het
Pls1 A G 9: 95,773,643 V352A probably damaging Het
Pygm T C 19: 6,388,821 S226P possibly damaging Het
Rnf17 T A 14: 56,434,371 S273R probably benign Het
Scamp2 T C 9: 57,587,127 V261A possibly damaging Het
Slc7a12 T A 3: 14,481,255 F153L probably benign Het
Smchd1 A T 17: 71,360,191 D1735E probably damaging Het
Stk40 A G 4: 126,123,714 probably null Het
Tas2r124 C T 6: 132,755,534 L269F possibly damaging Het
Tmem260 A C 14: 48,496,293 I216L probably benign Het
Ubr1 C A 2: 120,961,156 A116S possibly damaging Het
Unc13a T C 8: 71,649,549 K991R probably damaging Het
Vmn2r66 T C 7: 85,007,930 Y89C probably benign Het
Vps13b A C 15: 35,875,820 I2784L probably damaging Het
Zbtb26 T A 2: 37,436,600 K141N possibly damaging Het
Zranb1 T A 7: 132,950,397 M259K probably damaging Het
Other mutations in Cct6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Cct6b APN 11 82741391 missense probably damaging 1.00
IGL02606:Cct6b APN 11 82736445 missense probably damaging 1.00
IGL02707:Cct6b APN 11 82754954 splice site probably benign
R0032:Cct6b UTSW 11 82753643 missense possibly damaging 0.87
R0395:Cct6b UTSW 11 82739680 missense probably benign
R0556:Cct6b UTSW 11 82719444 splice site probably benign
R0631:Cct6b UTSW 11 82737088 splice site probably null
R1456:Cct6b UTSW 11 82753620 splice site probably benign
R3713:Cct6b UTSW 11 82760357 missense probably damaging 1.00
R4791:Cct6b UTSW 11 82742004 splice site probably null
R5154:Cct6b UTSW 11 82739695 missense probably damaging 1.00
R5256:Cct6b UTSW 11 82764220 missense probably damaging 0.98
R5338:Cct6b UTSW 11 82762189 missense possibly damaging 0.94
R5455:Cct6b UTSW 11 82755117 missense probably benign 0.04
R5560:Cct6b UTSW 11 82741413 missense probably damaging 1.00
R5616:Cct6b UTSW 11 82741349 missense probably damaging 1.00
R5644:Cct6b UTSW 11 82722455 missense probably benign 0.02
R6862:Cct6b UTSW 11 82719959 missense probably damaging 1.00
X0060:Cct6b UTSW 11 82741310 missense probably benign 0.00
Posted On2016-08-02