Incidental Mutation 'R9402:Tcp1'
ID 711317
Institutional Source Beutler Lab
Gene Symbol Tcp1
Ensembl Gene ENSMUSG00000068039
Gene Name t-complex protein 1
Synonyms p63, CCT, Ccta, Cct1, c-cpn, Tp63, Tcp-1, TRic
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R9402 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 12915701-12925067 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12922618 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 328 (L328Q)
Ref Sequence ENSEMBL: ENSMUSP00000116108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043923] [ENSMUST00000089024] [ENSMUST00000143961] [ENSMUST00000151287] [ENSMUST00000160378]
AlphaFold P11983
Predicted Effect probably benign
Transcript: ENSMUST00000043923
SMART Domains Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480

Pfam:Thiolase_N 8 267 2.9e-97 PFAM
Pfam:Thiolase_C 274 396 1.3e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089024
AA Change: L279Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039
AA Change: L279Q

Pfam:Cpn60_TCP1 1 486 1.9e-132 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143961
SMART Domains Protein: ENSMUSP00000116511
Gene: ENSMUSG00000068039

Pfam:Cpn60_TCP1 28 103 1.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151287
AA Change: L328Q

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039
AA Change: L328Q

Pfam:Cpn60_TCP1 28 535 6.3e-156 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160378
SMART Domains Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480

Pfam:Thiolase_N 5 248 5.6e-91 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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, three pseudogenes that appear to be derived from this gene have been found. [provided by RefSeq, Jun 2010]
PHENOTYPE: There are two electrophoretic alleles known; allele a occurs in all complete t haplotype chromosomes and allele b in wild-type strains. There are multiple changes between the amino acid sequences of the TCP1A and TCP1B proteins encoded by the two alleles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T G 1: 136,227,610 (GRCm38) S86R probably benign Het
Abca9 T A 11: 110,158,328 (GRCm38) Q218L probably benign Het
Atg2b A G 12: 105,648,423 (GRCm38) F1083S probably damaging Het
Bche T C 3: 73,701,323 (GRCm38) N257D probably benign Het
Cfap221 T A 1: 119,932,821 (GRCm38) M692L probably benign Het
Cfap46 G T 7: 139,635,949 (GRCm38) P1530Q unknown Het
Crim1 CCGC CC 17: 78,350,865 (GRCm38) probably null Het
Cyp4f39 T C 17: 32,491,209 (GRCm38) probably null Het
Daam1 A G 12: 71,959,830 (GRCm38) T674A probably benign Het
Elp2 A T 18: 24,626,163 (GRCm38) I526L probably benign Het
Exoc4 T A 6: 33,476,143 (GRCm38) *523K probably null Het
Fbxl7 G A 15: 26,552,503 (GRCm38) S226L probably damaging Het
Fry G A 5: 150,433,696 (GRCm38) E1903K possibly damaging Het
Fry G A 5: 150,436,853 (GRCm38) R1988K probably damaging Het
Gas1 A T 13: 60,176,202 (GRCm38) M206K probably damaging Het
Gbp10 T A 5: 105,233,997 (GRCm38) T96S possibly damaging Het
Gm14569 G A X: 36,430,896 (GRCm38) P1387S probably damaging Het
Gpaa1 A G 15: 76,332,218 (GRCm38) T105A probably benign Het
Hoxc13 C A 15: 102,921,616 (GRCm38) C143* probably null Het
Htt T C 5: 34,848,980 (GRCm38) I1411T probably damaging Het
Jmy C T 13: 93,499,170 (GRCm38) C46Y probably damaging Het
Klhl40 A G 9: 121,780,416 (GRCm38) Y453C possibly damaging Het
Krit1 T A 5: 3,822,210 (GRCm38) Y460N possibly damaging Het
Lamb3 C A 1: 193,331,396 (GRCm38) T526K Het
Lrrc29 T A 8: 105,323,356 (GRCm38) Y12F probably benign Het
Luzp1 T A 4: 136,543,182 (GRCm38) H905Q probably damaging Het
Lyst T A 13: 13,637,878 (GRCm38) H958Q probably benign Het
Magi1 T C 6: 94,283,297 (GRCm38) N9S probably benign Het
Mmadhc A T 2: 50,281,107 (GRCm38) V231E probably benign Het
Muc5b T A 7: 141,845,414 (GRCm38) M364K unknown Het
Nae1 A G 8: 104,528,185 (GRCm38) probably null Het
Ndst4 C T 3: 125,724,736 (GRCm38) S354L probably benign Het
Nlgn2 A G 11: 69,828,107 (GRCm38) F252S Het
Nlrp9a A T 7: 26,570,605 (GRCm38) N874I possibly damaging Het
Nodal T C 10: 61,423,600 (GRCm38) I272T probably damaging Het
Olfr1234 C A 2: 89,362,779 (GRCm38) G217* probably null Het
Olfr1259 A T 2: 89,943,940 (GRCm38) Y58* probably null Het
Olfr599 T C 7: 103,338,989 (GRCm38) S312P probably benign Het
Olfr645 G A 7: 104,084,403 (GRCm38) R226* probably null Het
Orm1 C A 4: 63,345,132 (GRCm38) Q61K possibly damaging Het
Pcdh17 T C 14: 84,447,206 (GRCm38) V371A probably damaging Het
Pcdhb19 C T 18: 37,499,479 (GRCm38) Q776* probably null Het
Phf14 A G 6: 11,933,780 (GRCm38) R214G possibly damaging Het
Phf3 G A 1: 30,811,847 (GRCm38) T1142M probably damaging Het
Pigz A G 16: 31,945,369 (GRCm38) E415G probably damaging Het
Pramel5 T C 4: 144,271,456 (GRCm38) T406A probably benign Het
Prtg A G 9: 72,911,971 (GRCm38) E1082G probably benign Het
Rtp3 A G 9: 110,985,963 (GRCm38) C445R unknown Het
Scn3b A T 9: 40,282,556 (GRCm38) E193V probably damaging Het
Scn7a A T 2: 66,680,112 (GRCm38) N1315K probably damaging Het
Snx14 C T 9: 88,407,437 (GRCm38) G254D probably damaging Het
Srbd1 T C 17: 86,099,277 (GRCm38) D560G probably benign Het
Srp72 T A 5: 76,976,482 (GRCm38) L65* probably null Het
Steap1 T A 5: 5,740,664 (GRCm38) I95F Het
Taf3 A G 2: 9,951,112 (GRCm38) probably null Het
Taok2 T C 7: 126,870,228 (GRCm38) N1143D Het
Tas2r114 C T 6: 131,689,931 (GRCm38) G45S possibly damaging Het
Tcerg1l T C 7: 138,209,822 (GRCm38) K548E probably damaging Het
Tns2 A G 15: 102,113,188 (GRCm38) H1096R probably damaging Het
Trps1 A T 15: 50,846,256 (GRCm38) Y233N probably damaging Het
Tubgcp6 A G 15: 89,102,861 (GRCm38) V1303A probably benign Het
Ugt1a2 T C 1: 88,200,962 (GRCm38) F109S possibly damaging Het
Vmn1r43 G A 6: 89,869,895 (GRCm38) T203M probably damaging Het
Zfp748 A G 13: 67,545,392 (GRCm38) V54A probably benign Het
Other mutations in Tcp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01624:Tcp1 APN 17 12,919,925 (GRCm38) missense probably benign 0.00
IGL01859:Tcp1 APN 17 12,922,684 (GRCm38) missense possibly damaging 0.95
IGL02635:Tcp1 APN 17 12,923,409 (GRCm38) missense probably benign 0.35
R0164:Tcp1 UTSW 17 12,922,747 (GRCm38) unclassified probably benign
R0308:Tcp1 UTSW 17 12,920,419 (GRCm38) missense probably benign 0.14
R0452:Tcp1 UTSW 17 12,924,352 (GRCm38) missense probably benign 0.14
R0661:Tcp1 UTSW 17 12,923,313 (GRCm38) missense probably benign 0.02
R0674:Tcp1 UTSW 17 12,923,244 (GRCm38) missense probably damaging 1.00
R1078:Tcp1 UTSW 17 12,923,204 (GRCm38) unclassified probably benign
R1434:Tcp1 UTSW 17 12,922,606 (GRCm38) splice site probably null
R1678:Tcp1 UTSW 17 12,920,423 (GRCm38) missense probably benign
R1801:Tcp1 UTSW 17 12,922,202 (GRCm38) nonsense probably null
R2063:Tcp1 UTSW 17 12,920,812 (GRCm38) missense probably damaging 0.99
R4061:Tcp1 UTSW 17 12,920,863 (GRCm38) missense probably benign
R4078:Tcp1 UTSW 17 12,918,083 (GRCm38) missense probably benign 0.05
R5516:Tcp1 UTSW 17 12,924,334 (GRCm38) missense probably damaging 0.98
R5620:Tcp1 UTSW 17 12,919,337 (GRCm38) splice site probably null
R5764:Tcp1 UTSW 17 12,916,602 (GRCm38) missense probably benign 0.10
R6729:Tcp1 UTSW 17 12,923,253 (GRCm38) missense probably damaging 1.00
R7112:Tcp1 UTSW 17 12,917,873 (GRCm38) missense probably damaging 0.99
R7614:Tcp1 UTSW 17 12,922,653 (GRCm38) missense possibly damaging 0.83
R7718:Tcp1 UTSW 17 12,922,162 (GRCm38) missense probably damaging 1.00
R8194:Tcp1 UTSW 17 12,922,734 (GRCm38) critical splice donor site probably null
R8239:Tcp1 UTSW 17 12,920,851 (GRCm38) missense probably benign 0.00
R8781:Tcp1 UTSW 17 12,924,376 (GRCm38) missense probably damaging 1.00
R9065:Tcp1 UTSW 17 12,920,323 (GRCm38) missense probably damaging 0.99
R9231:Tcp1 UTSW 17 12,917,874 (GRCm38) missense probably damaging 1.00
R9347:Tcp1 UTSW 17 12,917,800 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-05-16