Incidental Mutation 'R5263:Cct3'
ID 455971
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 042831-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5263 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 88204442-88229073 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 88228672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000001452] [ENSMUST00000001454] [ENSMUST00000131666] [ENSMUST00000176519] [ENSMUST00000177005] [ENSMUST00000164166] [ENSMUST00000176425] [ENSMUST00000168062]
AlphaFold P80318
Predicted Effect probably benign
Transcript: ENSMUST00000001452
SMART Domains Protein: ENSMUSP00000001452
Gene: ENSMUSG00000001416

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 33 527 3.2e-171 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000001454
SMART Domains Protein: ENSMUSP00000001454
Gene: ENSMUSG00000001418

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:NCU-G1 53 130 2.7e-26 PFAM
Pfam:NCU-G1 124 333 4.8e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131666
SMART Domains Protein: ENSMUSP00000120235
Gene: ENSMUSG00000001418

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153716
Predicted Effect probably benign
Transcript: ENSMUST00000163735
SMART Domains Protein: ENSMUSP00000130616
Gene: ENSMUSG00000001416

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 2 115 4.7e-22 PFAM
Pfam:Cpn60_TCP1 106 306 8.4e-64 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000168971
SMART Domains Protein: ENSMUSP00000131250
Gene: ENSMUSG00000001416

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 1 38 5.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164122
Predicted Effect probably benign
Transcript: ENSMUST00000176519
SMART Domains Protein: ENSMUSP00000135263
Gene: ENSMUSG00000001418

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:NCU-G1 53 125 4.7e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177005
SMART Domains Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:NCU-G1 54 397 1.1e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164166
SMART Domains Protein: ENSMUSP00000126109
Gene: ENSMUSG00000001416

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 15 489 1.7e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176425
SMART Domains Protein: ENSMUSP00000135575
Gene: ENSMUSG00000001418

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:NCU-G1 37 314 3.3e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168062
SMART Domains Protein: ENSMUSP00000131113
Gene: ENSMUSG00000001416

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 33 520 2.3e-157 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 G T 3: 138,133,816 (GRCm39) V309L probably benign Het
Agmo T C 12: 37,407,680 (GRCm39) V188A probably benign Het
Aqr A G 2: 113,947,059 (GRCm39) M1041T probably damaging Het
Arhgef4 T A 1: 34,764,078 (GRCm39) S1111R possibly damaging Het
Ascc3 A C 10: 50,592,757 (GRCm39) E1144D probably benign Het
Cd209f T C 8: 4,154,506 (GRCm39) T114A probably benign Het
Cgnl1 G A 9: 71,539,936 (GRCm39) Q1103* probably null Het
Cop1 G A 1: 159,152,507 (GRCm39) D586N probably damaging Het
Dcaf5 A G 12: 80,395,120 (GRCm39) S350P probably damaging Het
Dhx29 T C 13: 113,084,755 (GRCm39) C658R probably damaging Het
Dync1i1 G A 6: 5,969,446 (GRCm39) V424I possibly damaging Het
Gfap C T 11: 102,787,756 (GRCm39) R63Q probably damaging Het
Gm10563 CTTT CTTTATTT 4: 155,698,940 (GRCm39) probably null Het
Gprc6a C A 10: 51,502,900 (GRCm39) G321V probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Izumo1r A G 9: 14,812,976 (GRCm39) C99R probably damaging Het
Lrp1b T C 2: 41,850,691 (GRCm39) D102G probably damaging Het
Mettl4 G A 17: 95,047,937 (GRCm39) Q235* probably null Het
Mmrn2 A G 14: 34,121,541 (GRCm39) T804A probably benign Het
Mrgprb5 A G 7: 47,817,937 (GRCm39) V266A probably damaging Het
Ntng1 T C 3: 109,842,188 (GRCm39) D195G probably damaging Het
Pld4 T C 12: 112,731,465 (GRCm39) L206P probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prkd1 A G 12: 50,435,089 (GRCm39) L546P probably damaging Het
Rhob A T 12: 8,549,232 (GRCm39) M134K probably benign Het
Ryr3 A G 2: 112,548,347 (GRCm39) S3087P possibly damaging Het
Sema6c T C 3: 95,080,463 (GRCm39) L887P probably benign Het
Sltm T C 9: 70,492,081 (GRCm39) S648P unknown Het
Sucnr1 A G 3: 59,994,190 (GRCm39) I239M possibly damaging Het
Tgtp2 T A 11: 48,950,090 (GRCm39) M161L probably damaging Het
Trpm7 A G 2: 126,663,137 (GRCm39) V1037A probably benign Het
Vmn2r13 A T 5: 109,321,841 (GRCm39) H285Q probably benign Het
Zfp971 T A 2: 177,675,555 (GRCm39) C385S probably damaging Het
Zfpm2 T A 15: 40,962,791 (GRCm39) V283E probably benign Het
Zranb1 CTGATGATGATG CTGATGATGATGATG 7: 132,584,556 (GRCm39) probably benign Het
Other mutations in Cct3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0068:Cct3 UTSW 3 88,225,772 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- TGTCCAGATAACCAGCTTCTGAG -3'
(R):5'- ATGGAAGTCACCGTGCTCAG -3'

Sequencing Primer
(F):5'- CTTCTGAGCTTTGTCTAAAAGGAAGG -3'
(R):5'- ACTCCTGGCCAGCATCTG -3'
Posted On 2017-02-14