Incidental Mutation 'IGL02724:Cct7'
ID305091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cct7
Ensembl Gene ENSMUSG00000030007
Gene Namechaperonin containing Tcp1, subunit 7 (eta)
SynonymsCctz, Ccth
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.948) question?
Stock #IGL02724
Quality Score
Status
Chromosome6
Chromosomal Location85451514-85468475 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85459149 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 14 (D14V)
Ref Sequence ENSEMBL: ENSMUSP00000144919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032078] [ENSMUST00000204489] [ENSMUST00000204592]
Predicted Effect probably damaging
Transcript: ENSMUST00000032078
AA Change: D14V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032078
Gene: ENSMUSG00000030007
AA Change: D14V

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 32 524 1.8e-163 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204489
AA Change: D14V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144919
Gene: ENSMUSG00000030007
AA Change: D14V

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: D14V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144893
Gene: ENSMUSG00000030007
AA Change: D14V

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: ENSMUST00000205094
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T G 2: 93,845,776 K85Q probably damaging Het
Acmsd A T 1: 127,749,085 T116S possibly damaging Het
Agrn T A 4: 156,172,807 K1189* probably null Het
Alk T C 17: 71,985,460 R508G probably benign Het
Arhgap23 T A 11: 97,491,179 Y1123N probably damaging Het
Arl6ip5 G T 6: 97,232,404 M133I probably benign Het
Axin2 G A 11: 108,942,946 G573D possibly damaging Het
B4galt2 A G 4: 117,876,878 probably null Het
Baz2b G T 2: 59,977,374 D180E possibly damaging Het
Btnl6 G T 17: 34,508,175 Y460* probably null Het
C530008M17Rik T C 5: 76,858,459 V889A unknown Het
Cd55 T A 1: 130,449,412 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh2 C T 18: 16,629,480 R526Q probably benign Het
Chil1 A C 1: 134,189,243 E315A probably damaging Het
Cmya5 A G 13: 93,096,655 S642P probably benign Het
Cpm C A 10: 117,629,851 T43K probably damaging Het
Cyp8b1 A T 9: 121,915,387 V293D probably benign Het
Dock1 T G 7: 135,163,353 D1691E probably benign Het
Fasn T C 11: 120,809,833 D2120G probably benign Het
Gal3st4 T C 5: 138,265,417 K440R probably benign Het
Gfpt1 A T 6: 87,056,182 K130* probably null Het
Gpr26 T C 7: 131,974,392 probably null Het
Htr2a A T 14: 74,645,062 I163F probably damaging Het
Insrr A G 3: 87,809,572 D673G probably benign Het
Ipo8 G T 6: 148,791,481 C636* probably null Het
Kirrel C A 3: 87,090,473 E248* probably null Het
Lrp6 A G 6: 134,484,265 V743A probably damaging Het
Lrrc45 C A 11: 120,718,318 S374R probably benign Het
Map3k9 G A 12: 81,724,742 P714S probably benign Het
Mrgprb8 T A 7: 48,389,373 L264Q possibly damaging Het
Mroh4 C A 15: 74,606,151 W902L probably benign Het
Nfat5 T A 8: 107,358,735 D535E probably damaging Het
Nfatc3 T C 8: 106,108,185 V713A probably benign Het
Npc1l1 C T 11: 6,214,684 V1122M possibly damaging Het
Nsg2 A G 11: 32,055,011 probably null Het
Olfr1211 C A 2: 88,929,448 R289L probably damaging Het
Olfr282 T A 15: 98,437,779 F103L probably benign Het
Pax9 A T 12: 56,709,819 H314L possibly damaging Het
Phf21a A T 2: 92,360,247 I584F probably damaging Het
Pip5k1c A G 10: 81,313,462 E536G probably benign Het
Plekhm3 A G 1: 64,795,117 S736P probably damaging Het
Ppil2 A G 16: 17,103,602 Y73H probably benign Het
Ppp3cb T A 14: 20,523,577 probably null Het
Prdm9 A T 17: 15,563,260 S14R probably benign Het
Proc A G 18: 32,134,872 I71T probably damaging Het
Prom2 T A 2: 127,538,657 probably benign Het
Psd T C 19: 46,319,545 T675A probably benign Het
Rnf215 G T 11: 4,140,305 R341L probably damaging Het
Ryr3 A G 2: 112,902,576 probably null Het
Sh2d7 C A 9: 54,540,821 T42N probably benign Het
Sh3glb2 C T 2: 30,346,356 G279D probably benign Het
Slc25a46 A G 18: 31,605,815 probably benign Het
Snx17 T C 5: 31,197,046 S167P probably damaging Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sptbn4 G A 7: 27,367,679 R1937C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Srsf11 T C 3: 158,016,431 probably benign Het
Taar7b A T 10: 24,000,683 M249L probably benign Het
Tle6 G A 10: 81,600,064 Q6* probably null Het
Ttc30a2 T C 2: 75,976,338 E610G probably benign Het
Twnk G T 19: 45,008,118 R330L probably damaging Het
Unc13a C A 8: 71,656,305 probably benign Het
Vmn2r107 A G 17: 20,356,744 T335A possibly damaging Het
Wdtc1 A T 4: 133,297,478 S469R possibly damaging Het
Zfp382 A T 7: 30,133,737 Y271F probably benign Het
Other mutations in Cct7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02223:Cct7 APN 6 85462041 missense probably benign 0.00
IGL02292:Cct7 APN 6 85461109 missense probably benign 0.03
IGL02740:Cct7 APN 6 85468270 missense probably benign
PIT4495001:Cct7 UTSW 6 85459961 missense probably damaging 1.00
R0184:Cct7 UTSW 6 85461554 missense probably null 0.55
R1363:Cct7 UTSW 6 85466035 missense probably damaging 1.00
R1378:Cct7 UTSW 6 85467563 intron probably null
R2076:Cct7 UTSW 6 85468140 missense probably damaging 0.98
R2210:Cct7 UTSW 6 85459230 missense probably damaging 1.00
R3905:Cct7 UTSW 6 85466708 missense possibly damaging 0.90
R4298:Cct7 UTSW 6 85468173 missense probably damaging 1.00
R4422:Cct7 UTSW 6 85467145 missense probably damaging 0.98
R6519:Cct7 UTSW 6 85462150 missense probably benign 0.19
R6903:Cct7 UTSW 6 85466693 missense probably benign 0.27
R6925:Cct7 UTSW 6 85459182 missense probably damaging 1.00
R7133:Cct7 UTSW 6 85466645 missense probably benign 0.02
R7458:Cct7 UTSW 6 85459996 missense probably benign 0.14
Posted On2015-04-16