Incidental Mutation 'R0068:Cct3'
ID 17213
Institutional Source Beutler Lab
Gene Symbol Cct3
Ensembl Gene ENSMUSG00000001416
Gene Name chaperonin containing TCP1 subunit 3
Synonyms TriC-P5, Tcp1-rs3, Cctg
MMRRC Submission 038359-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0068 (G1)
Quality Score
Status Validated
Chromosome 3
Chromosomal Location 88204442-88229073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88225772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 365 (D365G)
Ref Sequence ENSEMBL: ENSMUSP00000131113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001452] [ENSMUST00000164166] [ENSMUST00000168062]
AlphaFold P80318
Predicted Effect probably benign
Transcript: ENSMUST00000001452
AA Change: D365G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000001452
Gene: ENSMUSG00000001416
AA Change: D365G

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 33 527 3.2e-171 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000163735
AA Change: D222G
SMART Domains Protein: ENSMUSP00000130616
Gene: ENSMUSG00000001416
AA Change: D222G

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 2 115 4.7e-22 PFAM
Pfam:Cpn60_TCP1 106 306 8.4e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164122
Predicted Effect probably benign
Transcript: ENSMUST00000164166
AA Change: D327G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126109
Gene: ENSMUSG00000001416
AA Change: D327G

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 15 489 1.7e-144 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167718
Predicted Effect probably benign
Transcript: ENSMUST00000168062
AA Change: D365G

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000131113
Gene: ENSMUSG00000001416
AA Change: D365G

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 33 520 2.3e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168971
SMART Domains Protein: ENSMUSP00000131250
Gene: ENSMUSG00000001416

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 1 38 5.6e-8 PFAM
Meta Mutation Damage Score 0.0858 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 97.6%
  • 10x: 82.1%
  • 20x: 74.0%
Validation Efficiency 94% (83/88)
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 have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit lethality at E8. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,036,405 (GRCm39) N568S probably damaging Het
Aldoart2 G T 12: 55,612,233 (GRCm39) E53* probably null Het
Ankra2 C T 13: 98,409,891 (GRCm39) Q137* probably null Het
Arpc1a C T 5: 145,028,054 (GRCm39) T21I possibly damaging Het
Arvcf T C 16: 18,214,819 (GRCm39) probably benign Het
Ash1l C A 3: 88,914,624 (GRCm39) S1751R probably benign Het
Bltp1 A G 3: 37,006,370 (GRCm39) T1675A probably benign Het
Bsn C A 9: 107,989,336 (GRCm39) G2139C probably damaging Het
Cbl A T 9: 44,065,491 (GRCm39) S22T probably damaging Het
Ccdc148 T C 2: 58,717,629 (GRCm39) E530G probably benign Het
Cep85 A T 4: 133,881,606 (GRCm39) H332Q probably benign Het
Cwf19l1 A T 19: 44,119,938 (GRCm39) Y68N probably damaging Het
Dlc1 T A 8: 37,404,875 (GRCm39) M305L probably benign Het
Dnm1l C A 16: 16,141,883 (GRCm39) G288C probably damaging Het
Exoc7 T C 11: 116,195,732 (GRCm39) Y83C probably damaging Het
Fignl2 A T 15: 100,952,129 (GRCm39) I51N probably damaging Het
Flnb A G 14: 7,915,290 (GRCm38) N1474D possibly damaging Het
Ghrhr C T 6: 55,357,849 (GRCm39) probably benign Het
Gucy1b1 T C 3: 81,942,185 (GRCm39) T525A probably benign Het
Hhip T G 8: 80,715,885 (GRCm39) D557A probably damaging Het
Hps5 A G 7: 46,426,466 (GRCm39) probably benign Het
Igsf10 A T 3: 59,238,045 (GRCm39) V712D probably damaging Het
Irf6 G T 1: 192,848,067 (GRCm39) probably benign Het
Itpr3 T C 17: 27,323,034 (GRCm39) probably benign Het
Jag2 A G 12: 112,878,813 (GRCm39) probably benign Het
Kansl1l A G 1: 66,760,047 (GRCm39) V911A probably benign Het
Kdm3b C T 18: 34,957,827 (GRCm39) T1064I probably benign Het
Lrriq1 T A 10: 102,899,279 (GRCm39) Q1654L probably benign Het
Ltbp1 A G 17: 75,666,404 (GRCm39) T1366A probably damaging Het
Mroh1 A G 15: 76,330,892 (GRCm39) probably benign Het
Napb G A 2: 148,540,843 (GRCm39) probably benign Het
Nebl T A 2: 17,439,782 (GRCm39) R164* probably null Het
Npc1 G C 18: 12,341,424 (GRCm39) P532A probably benign Het
Nrp2 G T 1: 62,784,536 (GRCm39) K228N possibly damaging Het
Or13f5 T A 4: 52,825,503 (GRCm39) Y35* probably null Het
Plekhg1 A T 10: 3,890,502 (GRCm39) Y386F probably damaging Het
Pmfbp1 G C 8: 110,269,011 (GRCm39) probably benign Het
Poln T C 5: 34,234,432 (GRCm39) probably benign Het
Polr1c A G 17: 46,555,829 (GRCm39) V200A probably benign Het
Ppil1 A T 17: 29,471,230 (GRCm39) F92I probably damaging Het
Ptchd3 T G 11: 121,733,798 (GRCm39) L896R probably damaging Het
Rev3l A G 10: 39,700,827 (GRCm39) N1775D possibly damaging Het
Robo4 G A 9: 37,315,773 (GRCm39) R342Q probably benign Het
Rusc2 T C 4: 43,424,100 (GRCm39) probably benign Het
S100pbp T C 4: 129,038,249 (GRCm39) probably benign Het
Slc25a48 T C 13: 56,599,024 (GRCm39) V118A probably damaging Het
Slc38a10 T C 11: 120,025,679 (GRCm39) D219G probably damaging Het
Slc38a2 C T 15: 96,589,173 (GRCm39) probably null Het
Slc39a12 A G 2: 14,440,489 (GRCm39) E480G probably benign Het
Tab2 C A 10: 7,795,441 (GRCm39) R347L probably damaging Het
Tas2r123 T C 6: 132,824,955 (GRCm39) I284T possibly damaging Het
Tex9 A G 9: 72,394,051 (GRCm39) probably benign Het
Tifab A G 13: 56,324,218 (GRCm39) L75P probably damaging Het
Tmc5 T A 7: 118,233,460 (GRCm39) D91E probably benign Het
Tnks1bp1 T A 2: 84,892,696 (GRCm39) D212E probably benign Het
Ugcg A G 4: 59,217,130 (GRCm39) D218G probably benign Het
Zfp451 A T 1: 33,816,706 (GRCm39) L198I probably damaging Het
Other mutations in Cct3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0068:Cct3 UTSW 3 88,225,772 (GRCm39) missense probably benign 0.05
R0454:Cct3 UTSW 3 88,210,173 (GRCm39) critical splice donor site probably null
R0799:Cct3 UTSW 3 88,206,652 (GRCm39) splice site probably null
R0883:Cct3 UTSW 3 88,220,864 (GRCm39) missense probably damaging 1.00
R1202:Cct3 UTSW 3 88,225,835 (GRCm39) critical splice donor site probably null
R3889:Cct3 UTSW 3 88,228,334 (GRCm39) missense probably benign 0.00
R4766:Cct3 UTSW 3 88,219,092 (GRCm39) nonsense probably null
R5089:Cct3 UTSW 3 88,208,150 (GRCm39) missense probably damaging 1.00
R5224:Cct3 UTSW 3 88,204,532 (GRCm39) utr 5 prime probably benign
R5263:Cct3 UTSW 3 88,228,672 (GRCm39) critical splice donor site probably null
R5772:Cct3 UTSW 3 88,208,274 (GRCm39) missense probably damaging 1.00
R6026:Cct3 UTSW 3 88,219,029 (GRCm39) missense possibly damaging 0.90
R7230:Cct3 UTSW 3 88,220,567 (GRCm39) missense probably damaging 0.99
R7423:Cct3 UTSW 3 88,216,503 (GRCm39) missense probably benign 0.05
R7810:Cct3 UTSW 3 88,228,442 (GRCm39) missense probably damaging 1.00
R8315:Cct3 UTSW 3 88,220,564 (GRCm39) missense probably benign 0.00
R8422:Cct3 UTSW 3 88,208,126 (GRCm39) missense probably damaging 1.00
R8431:Cct3 UTSW 3 88,225,831 (GRCm39) missense possibly damaging 0.68
R9290:Cct3 UTSW 3 88,216,536 (GRCm39) missense probably benign
R9295:Cct3 UTSW 3 88,212,430 (GRCm39) missense probably benign 0.00
R9338:Cct3 UTSW 3 88,225,706 (GRCm39) missense probably benign 0.22
Posted On 2013-01-20