Mutagenetix > Incidental Mutation

Incidental Mutation 'R0308:Tcp1'

25003

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

038518-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R0308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13135216-13143954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13139306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 162 (I162N)

Ref Sequence

ENSEMBL: ENSMUSP00000086418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043923] [ENSMUST00000079121] [ENSMUST00000089024] [ENSMUST00000151287] [ENSMUST00000143961] [ENSMUST00000160378]

AlphaFold

P11983

Predicted Effect

probably benign
Transcript: ENSMUST00000043923

SMART Domains

Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	8	267	2.9e-97	PFAM
Pfam:Thiolase_C	274	396	1.3e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079121

SMART Domains

Protein: ENSMUSP00000078123
Gene: ENSMUSG00000057388

Domain	Start	End	E-Value	Type
PDB:4CE4\|S	1	180	1e-108	PDB
SCOP:d1jj2m_	78	141	2e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083171

Predicted Effect

probably benign
Transcript: ENSMUST00000089024
AA Change: I162N

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039
AA Change: I162N

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	1	486	1.9e-132	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133003

Predicted Effect

probably benign
Transcript: ENSMUST00000151287
AA Change: I211N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039
AA Change: I211N

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	28	535	6.3e-156	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151715

Predicted Effect

probably benign
Transcript: ENSMUST00000143961

SMART Domains

Protein: ENSMUSP00000116511
Gene: ENSMUSG00000068039

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	28	103	1.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160378

SMART Domains

Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	5	248	5.6e-91	PFAM

Meta Mutation Damage Score

0.9056

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (82/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,989 (GRCm39)	D65V	probably damaging	Het
4933407L21Rik	A	T	1: 85,859,007 (GRCm39)		probably benign	Het
Abcc12	C	T	8: 87,284,381 (GRCm39)		probably benign	Het
Adamts12	A	G	15: 11,311,646 (GRCm39)	E1301G	probably damaging	Het
Adh4	A	T	3: 138,129,863 (GRCm39)	N230Y	probably damaging	Het
Anapc15-ps	T	A	10: 95,508,954 (GRCm39)	M109L	probably benign	Het
Angpt2	T	C	8: 18,742,141 (GRCm39)	I472V	possibly damaging	Het
Arhgef26	C	A	3: 62,247,820 (GRCm39)	D301E	probably benign	Het
Armc10	G	A	5: 21,852,295 (GRCm39)		probably benign	Het
Atm	T	C	9: 53,365,773 (GRCm39)		probably null	Het
Atp5f1b	T	C	10: 127,921,908 (GRCm39)	V265A	probably benign	Het
Atp8b1	G	T	18: 64,678,315 (GRCm39)	C860*	probably null	Het
Atrnl1	T	G	19: 57,741,720 (GRCm39)	S1160A	probably benign	Het
Bmal1	A	T	7: 112,890,743 (GRCm39)	I179F	probably damaging	Het
Cep55	A	G	19: 38,048,659 (GRCm39)	E105G	possibly damaging	Het
Cfap54	C	A	10: 92,721,226 (GRCm39)	D2502Y	unknown	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Clptm1l	A	G	13: 73,759,786 (GRCm39)	D282G	possibly damaging	Het
Csrp1	C	A	1: 135,673,024 (GRCm39)	T47N	probably damaging	Het
Cyp2c40	T	A	19: 39,766,432 (GRCm39)	I388F	probably damaging	Het
Dars1	C	T	1: 128,291,996 (GRCm39)	R494H	probably damaging	Het
Dna2	T	C	10: 62,792,753 (GRCm39)	V256A	probably damaging	Het
Dock7	T	C	4: 98,873,051 (GRCm39)	T1132A	probably benign	Het
Dpcd	T	G	19: 45,565,445 (GRCm39)	F140V	probably damaging	Het
Elk3	A	T	10: 93,101,067 (GRCm39)	M228K	probably benign	Het
Erich6	A	G	3: 58,543,525 (GRCm39)	F182L	probably damaging	Het
Fhad1	A	G	4: 141,712,904 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,198,947 (GRCm39)		probably benign	Het
Fzd9	A	T	5: 135,278,260 (GRCm39)	C542S	probably damaging	Het
Gba1	A	G	3: 89,115,671 (GRCm39)	T460A	probably benign	Het
Gli2	C	T	1: 118,769,792 (GRCm39)	A587T	probably benign	Het
Gm11011	C	T	2: 169,424,614 (GRCm39)		probably benign	Het
Gmppb	A	G	9: 107,927,033 (GRCm39)	E68G	probably benign	Het
Gpld1	A	G	13: 25,146,818 (GRCm39)	N260S	possibly damaging	Het
Hipk3	G	A	2: 104,263,552 (GRCm39)	S900L	probably damaging	Het
Idi2l	T	G	13: 8,990,877 (GRCm39)		probably benign	Het
Ints6l	A	T	X: 55,526,715 (GRCm39)	M215L	possibly damaging	Het
Irx6	T	A	8: 93,403,659 (GRCm39)	L128Q	probably damaging	Het
Itga10	T	C	3: 96,558,780 (GRCm39)	S373P	probably damaging	Het
Jak1	T	C	4: 101,011,732 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,289,157 (GRCm39)	T1103I	probably benign	Het
Katnal1	A	T	5: 148,815,734 (GRCm39)	V401D	possibly damaging	Het
Krbox5	A	G	13: 67,991,232 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,313,326 (GRCm39)		probably benign	Het
Map3k13	A	G	16: 21,710,738 (GRCm39)	H7R	probably benign	Het
Mrgprx3-ps	A	G	7: 46,959,766 (GRCm39)	V75A	probably benign	Het
Nol6	C	T	4: 41,123,584 (GRCm39)	A55T	probably benign	Het
Opa1	G	A	16: 29,440,349 (GRCm39)	R818Q	probably damaging	Het
Opn4	T	C	14: 34,319,081 (GRCm39)	Y168C	possibly damaging	Het
Or8b35	A	G	9: 37,904,141 (GRCm39)	I118V	probably benign	Het
Phf21a	T	C	2: 92,161,122 (GRCm39)	V330A	possibly damaging	Het
Phykpl	A	G	11: 51,484,423 (GRCm39)		probably benign	Het
Plcb1	T	G	2: 134,655,534 (GRCm39)	V38G	probably benign	Het
Plxna4	T	A	6: 32,214,703 (GRCm39)	T593S	probably benign	Het
Poll	A	T	19: 45,544,404 (GRCm39)	I339N	probably damaging	Het
Rev3l	A	G	10: 39,700,890 (GRCm39)	I1796V	probably benign	Het
Rnf103	G	A	6: 71,486,686 (GRCm39)	R439H	probably damaging	Het
Rrn3	G	A	16: 13,617,746 (GRCm39)		probably benign	Het
Sec14l4	G	A	11: 3,991,726 (GRCm39)		probably benign	Het
Sec23a	A	C	12: 59,053,985 (GRCm39)	Y4*	probably null	Het
Senp6	T	C	9: 80,040,265 (GRCm39)		probably null	Het
Serpinb6b	A	T	13: 33,162,220 (GRCm39)	N221Y	probably benign	Het
Slc6a2	A	G	8: 93,687,988 (GRCm39)	E38G	possibly damaging	Het
Smap1	A	T	1: 23,888,423 (GRCm39)	L196I	probably damaging	Het
Sorbs2	C	T	8: 46,248,167 (GRCm39)	Q473*	probably null	Het
Sphkap	C	A	1: 83,254,690 (GRCm39)	V1020F	probably damaging	Het
Srfbp1	T	C	18: 52,621,614 (GRCm39)	V225A	probably benign	Het
Srprb	G	A	9: 103,079,204 (GRCm39)	P728S	possibly damaging	Het
Tarm1	T	C	7: 3,545,187 (GRCm39)		probably benign	Het
Tmem237	C	A	1: 59,146,676 (GRCm39)	A292S	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnpo1	A	G	13: 98,983,011 (GRCm39)	F884L	probably damaging	Het
Trim7	A	G	11: 48,740,328 (GRCm39)	T142A	probably damaging	Het
Ttn	T	A	2: 76,616,024 (GRCm39)	I14894F	probably damaging	Het
Tubgcp6	T	C	15: 89,006,639 (GRCm39)	R128G	possibly damaging	Het
Ube2d2b	A	G	5: 107,978,774 (GRCm39)	T142A	possibly damaging	Het
Unc13c	G	T	9: 73,388,400 (GRCm39)	L2129I	probably benign	Het
Ushbp1	T	C	8: 71,843,697 (GRCm39)	D247G	probably damaging	Het
Usp43	G	A	11: 67,770,966 (GRCm39)	A556V	probably damaging	Het
Zfp438	T	A	18: 5,213,638 (GRCm39)	H440L	probably benign	Het
Zfp518b	C	T	5: 38,830,113 (GRCm39)	E631K	possibly damaging	Het

Other mutations in Tcp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ACTGCATTTGAAGTACAGATGGTGGTG -3'
(R):5'- GCAGGCTGAAGTCAAGACAAGCAATTT -3'

Sequencing Primer
(F):5'- TGCACAAGTCACTTTGATTGTAG -3'
(R):5'- cctgcctgcctctcataac -3'

Posted On

2013-04-16