Incidental Mutation 'R8194:Tcp1'
ID 635372
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 067617-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R8194 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 13135216-13143954 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 13141621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000089024
SMART Domains Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039

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 null
Transcript: ENSMUST00000151287
SMART Domains Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039

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: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (51/51)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4a T A 12: 71,106,889 (GRCm39) Y320* probably null Het
Ash1l T A 3: 88,960,062 (GRCm39) C2265S probably damaging Het
Atg4b T A 1: 93,713,694 (GRCm39) C55* probably null Het
Cacna1s A T 1: 136,005,430 (GRCm39) N405I probably benign Het
Capn11 A T 17: 45,944,325 (GRCm39) D526E probably damaging Het
Ccdc188 A G 16: 18,036,244 (GRCm39) R71G probably benign Het
Ccser2 G A 14: 36,618,220 (GRCm39) R772W probably damaging Het
Cenpf T A 1: 189,414,600 (GRCm39) E172D probably benign Het
Cep85 T C 4: 133,861,400 (GRCm39) M627V probably null Het
Chd1 G A 17: 17,594,737 (GRCm39) probably benign Het
Cnst A G 1: 179,437,759 (GRCm39) H441R probably benign Het
Cyp2d11 G T 15: 82,274,638 (GRCm39) T313N probably damaging Het
Cyp2g1 A G 7: 26,514,159 (GRCm39) N255S possibly damaging Het
Dnah5 A G 15: 28,453,414 (GRCm39) D4395G probably damaging Het
Fcnb C T 2: 27,968,330 (GRCm39) S209N possibly damaging Het
Gpsm1 CT CTT 2: 26,217,364 (GRCm39) probably null Het
Lama4 A G 10: 38,954,716 (GRCm39) S1090G probably damaging Het
Malrd1 A G 2: 15,929,931 (GRCm39) D1479G unknown Het
Man2a2 T C 7: 80,010,766 (GRCm39) K742E probably benign Het
Mapk8 A T 14: 33,104,241 (GRCm39) S392T probably benign Het
Mark3 T C 12: 111,559,117 (GRCm39) I53T probably damaging Het
Mcmdc2 A G 1: 9,986,867 (GRCm39) I219V probably benign Het
Mlycd A T 8: 120,134,332 (GRCm39) E278V probably benign Het
Muc2 G T 7: 141,290,801 (GRCm39) C29F Het
Mup20 T C 4: 61,971,721 (GRCm39) I77V probably benign Het
Myh3 A G 11: 66,982,828 (GRCm39) E849G probably damaging Het
Nedd4 A G 9: 72,593,389 (GRCm39) N154S probably damaging Het
Odad4 G A 11: 100,454,502 (GRCm39) G429E probably benign Het
Or1e1f A T 11: 73,856,240 (GRCm39) I269F probably benign Het
Pcdh7 A T 5: 57,877,678 (GRCm39) N411I probably damaging Het
Plekhm1 A G 11: 103,285,886 (GRCm39) I183T possibly damaging Het
Prkar2a G A 9: 108,569,710 (GRCm39) V19M probably damaging Het
Prss35 T G 9: 86,637,666 (GRCm39) N145K possibly damaging Het
Ranbp2 T A 10: 58,291,747 (GRCm39) D251E possibly damaging Het
Rnf169 C A 7: 99,575,651 (GRCm39) V315F probably damaging Het
Slc32a1 T C 2: 158,455,761 (GRCm39) Y139H probably damaging Het
Slc5a2 T C 7: 127,870,328 (GRCm39) V522A probably benign Het
Slc6a6 A T 6: 91,717,952 (GRCm39) Q297L probably damaging Het
Sos2 A C 12: 69,645,598 (GRCm39) Y914D probably damaging Het
Spata1 G T 3: 146,195,614 (GRCm39) T32N possibly damaging Het
Srcap C T 7: 127,138,369 (GRCm39) R1180C probably damaging Het
St14 A T 9: 31,042,921 (GRCm39) M1K probably null Het
Tcaf1 T C 6: 42,652,236 (GRCm39) T749A probably benign Het
Tle6 A G 10: 81,426,888 (GRCm39) V576A probably damaging Het
Usp17lc T A 7: 103,067,407 (GRCm39) M234K probably benign Het
Washc4 A G 10: 83,416,163 (GRCm39) I818V possibly damaging Het
Zdhhc18 A G 4: 133,341,165 (GRCm39) L236P probably damaging Het
Zfp266 T C 9: 20,411,610 (GRCm39) D189G probably benign Het
Zfp474 A T 18: 52,772,229 (GRCm39) D294V probably damaging Het
Zfp568 T C 7: 29,722,758 (GRCm39) F568L probably damaging Het
Zfp93 A G 7: 23,975,479 (GRCm39) K488R probably benign 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
R5764:Tcp1 UTSW 17 13,135,489 (GRCm39) missense probably benign 0.10
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
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

Sequencing Primer
Posted On 2020-07-13