Incidental Mutation 'R5764:Tcp1'
ID 446199
Institutional Source Beutler Lab
Gene Symbol Tcp1
Ensembl Gene ENSMUSG00000068039
Gene Name t-complex protein 1
Synonyms c-cpn, TRic, p63, Ccta, Tp63, CCT, Cct1, Tcp-1
MMRRC Submission 043365-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R5764 (G1)
Quality Score 220
Status Validated
Chromosome 17
Chromosomal Location 13135216-13143954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13135489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 13 (T13A)
Ref Sequence ENSEMBL: ENSMUSP00000116108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079121] [ENSMUST00000089024] [ENSMUST00000143961] [ENSMUST00000151287]
AlphaFold P11983
Predicted Effect probably benign
Transcript: ENSMUST00000079121
SMART Domains Protein: ENSMUSP00000078123
Gene: ENSMUSG00000057388

DomainStartEndE-ValueType
PDB:4CE4|S 1 180 1e-108 PDB
SCOP:d1jj2m_ 78 141 2e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083171
Predicted Effect probably benign
Transcript: ENSMUST00000089024
SMART Domains Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 1 486 1.9e-132 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133003
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151715
Predicted Effect probably benign
Transcript: ENSMUST00000143961
AA Change: T13A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000116511
Gene: ENSMUSG00000068039
AA Change: T13A

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 28 103 1.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151287
AA Change: T13A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039
AA Change: T13A

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 28 535 6.3e-156 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137289
Meta Mutation Damage Score 0.0839 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (53/54)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,413,423 (GRCm39) V536I possibly damaging Het
Arap2 T C 5: 62,800,197 (GRCm39) T1277A probably damaging Het
Cep85l A T 10: 53,225,090 (GRCm39) D166E probably benign Het
Cope T C 8: 70,759,231 (GRCm39) S125P probably damaging Het
Dzip3 A G 16: 48,747,724 (GRCm39) probably benign Het
Endou G A 15: 97,612,488 (GRCm39) R253C probably damaging Het
Entpd1 A T 19: 40,727,417 (GRCm39) probably null Het
Fhip1a A G 3: 85,573,172 (GRCm39) Y926H probably damaging Het
Grk3 A G 5: 113,114,776 (GRCm39) probably null Het
Hba-a2 T A 11: 32,247,156 (GRCm39) probably null Het
Hecw1 C T 13: 14,497,094 (GRCm39) V305I probably damaging Het
Hspg2 C A 4: 137,289,032 (GRCm39) T3735K probably damaging Het
Htr4 G A 18: 62,570,613 (GRCm39) A223T probably damaging Het
Iglv1 T C 16: 18,904,190 (GRCm39) I7M unknown Het
Jag1 C T 2: 136,931,167 (GRCm39) C655Y probably damaging Het
Jmjd1c C T 10: 67,062,291 (GRCm39) T1548I probably damaging Het
Kif5a GGGTTGGT GGGT 10: 127,066,898 (GRCm39) probably null Het
Klra6 T A 6: 129,999,692 (GRCm39) Q92L possibly damaging Het
Lrp1 T C 10: 127,431,187 (GRCm39) N325S probably benign Het
Ly75 C T 2: 60,148,783 (GRCm39) R1182H probably benign Het
Map2 T C 1: 66,454,034 (GRCm39) S975P probably damaging Het
Med13l T A 5: 118,866,707 (GRCm39) L587Q probably damaging Het
Mpdz A G 4: 81,274,683 (GRCm39) F180L probably benign Het
Myadm G A 7: 3,345,768 (GRCm39) V177I possibly damaging Het
Ngly1 T A 14: 16,260,799 (GRCm38) M161K probably benign Het
Nup153 A G 13: 46,840,803 (GRCm39) M255T probably damaging Het
Pgm1 C T 4: 99,822,043 (GRCm39) A303V probably damaging Het
Pgr A T 9: 8,900,538 (GRCm39) I24F probably benign Het
Pigq A T 17: 26,151,093 (GRCm39) I412N probably damaging Het
Plod2 A G 9: 92,485,074 (GRCm39) H525R probably damaging Het
Polq T G 16: 36,837,706 (GRCm39) M206R probably damaging Het
Psap T A 10: 60,129,186 (GRCm39) S100T probably benign Het
Psme4 G A 11: 30,722,364 (GRCm39) probably benign Het
Serpina1d T A 12: 103,732,080 (GRCm39) M260L probably benign Het
Serpinf2 A G 11: 75,328,230 (GRCm39) L106P possibly damaging Het
Sumf1 C T 6: 108,095,424 (GRCm39) probably benign Het
Tfap2a A C 13: 40,881,831 (GRCm39) I185S possibly damaging Het
Tlr2 A C 3: 83,745,819 (GRCm39) I88S probably damaging Het
Tmc4 A T 7: 3,675,022 (GRCm39) F283L probably damaging Het
Tox4 T C 14: 52,523,277 (GRCm39) V79A probably damaging Het
Trim10 A T 17: 37,181,073 (GRCm39) E101D probably damaging Het
Troap T A 15: 98,973,300 (GRCm39) I22N probably damaging Het
Unc13c C T 9: 73,441,185 (GRCm39) probably null Het
Utp4 T G 8: 107,644,248 (GRCm39) V529G possibly damaging Het
Zeb2 T C 2: 44,886,931 (GRCm39) M664V possibly damaging Het
Zfp180 A G 7: 23,800,909 (GRCm39) Y53C possibly damaging Het
Other mutations in Tcp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01624:Tcp1 APN 17 13,138,812 (GRCm39) missense probably benign 0.00
IGL01859:Tcp1 APN 17 13,141,571 (GRCm39) missense possibly damaging 0.95
IGL02635:Tcp1 APN 17 13,142,296 (GRCm39) missense probably benign 0.35
R0164:Tcp1 UTSW 17 13,141,634 (GRCm39) unclassified probably benign
R0308:Tcp1 UTSW 17 13,139,306 (GRCm39) missense probably benign 0.14
R0452:Tcp1 UTSW 17 13,143,239 (GRCm39) missense probably benign 0.14
R0661:Tcp1 UTSW 17 13,142,200 (GRCm39) missense probably benign 0.02
R0674:Tcp1 UTSW 17 13,142,131 (GRCm39) missense probably damaging 1.00
R1078:Tcp1 UTSW 17 13,142,091 (GRCm39) unclassified probably benign
R1434:Tcp1 UTSW 17 13,141,493 (GRCm39) splice site probably null
R1678:Tcp1 UTSW 17 13,139,310 (GRCm39) missense probably benign
R1801:Tcp1 UTSW 17 13,141,089 (GRCm39) nonsense probably null
R2063:Tcp1 UTSW 17 13,139,699 (GRCm39) missense probably damaging 0.99
R4061:Tcp1 UTSW 17 13,139,750 (GRCm39) missense probably benign
R4078:Tcp1 UTSW 17 13,136,970 (GRCm39) missense probably benign 0.05
R5516:Tcp1 UTSW 17 13,143,221 (GRCm39) missense probably damaging 0.98
R5620:Tcp1 UTSW 17 13,138,224 (GRCm39) splice site probably null
R6729:Tcp1 UTSW 17 13,142,140 (GRCm39) missense probably damaging 1.00
R7112:Tcp1 UTSW 17 13,136,760 (GRCm39) missense probably damaging 0.99
R7614:Tcp1 UTSW 17 13,141,540 (GRCm39) missense possibly damaging 0.83
R7718:Tcp1 UTSW 17 13,141,049 (GRCm39) missense probably damaging 1.00
R8194:Tcp1 UTSW 17 13,141,621 (GRCm39) critical splice donor site probably null
R8239:Tcp1 UTSW 17 13,139,738 (GRCm39) missense probably benign 0.00
R8781:Tcp1 UTSW 17 13,143,263 (GRCm39) missense probably damaging 1.00
R9065:Tcp1 UTSW 17 13,139,210 (GRCm39) missense probably damaging 0.99
R9231:Tcp1 UTSW 17 13,136,761 (GRCm39) missense probably damaging 1.00
R9347:Tcp1 UTSW 17 13,136,687 (GRCm39) missense probably benign 0.00
R9402:Tcp1 UTSW 17 13,141,505 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCTCTAGTTGACCCAGCGTC -3'
(R):5'- TTACACGGTAGGGCGCAATG -3'

Sequencing Primer
(F):5'- GCTTTCCCGGCAGACCTTG -3'
(R):5'- CTGAAGGAACTTCACTGG -3'
Posted On 2016-11-21