Mutagenetix > Incidental Mutation

Incidental Mutation 'R9065:Tcp1'

689234

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

068890-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R9065 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13135216-13143954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13139210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 179 (V179D)

Ref Sequence

ENSEMBL: ENSMUSP00000116108 (fasta)

Gene Model

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

probably damaging
Transcript: ENSMUST00000089024
AA Change: V130D

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039
AA Change: V130D

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

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 damaging
Transcript: ENSMUST00000151287
AA Change: V179D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039
AA Change: V179D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,323,084 (GRCm39)	N1472S	probably benign	Het
4930447C04Rik	C	A	12: 72,939,604 (GRCm39)	Q435H	possibly damaging	Het
Aass	G	T	6: 23,075,746 (GRCm39)	A797E	probably benign	Het
Ap3b1	T	A	13: 94,608,223 (GRCm39)	Y565N	probably damaging	Het
Arid2	A	G	15: 96,269,372 (GRCm39)	T1162A	probably benign	Het
Atp11b	T	C	3: 35,887,131 (GRCm39)		probably null	Het
Card11	G	A	5: 140,894,297 (GRCm39)	P111S	probably damaging	Het
Ccdc66	T	A	14: 27,213,850 (GRCm39)	E328D	probably damaging	Het
Cldn8	T	A	16: 88,359,902 (GRCm39)	M8L	probably benign	Het
Cnot9	T	A	1: 74,558,142 (GRCm39)	L96*	probably null	Het
Cntnap5c	T	A	17: 58,445,642 (GRCm39)	C561S	probably damaging	Het
Dnah5	A	G	15: 28,293,936 (GRCm39)	D1347G	probably benign	Het
Epb41	A	G	4: 131,682,888 (GRCm39)	V390A		Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Eps15l1	G	T	8: 73,145,762 (GRCm39)	S157*	probably null	Het
Ercc6l2	A	G	13: 63,967,866 (GRCm39)	I155M	possibly damaging	Het
Esco1	G	T	18: 10,594,005 (GRCm39)	T427K	probably benign	Het
Fignl1	C	T	11: 11,752,692 (GRCm39)	C121Y	possibly damaging	Het
Flrt2	A	G	12: 95,746,177 (GRCm39)	S172G	probably damaging	Het
Frmd3	A	T	4: 74,063,269 (GRCm39)		probably null	Het
Fuz	C	T	7: 44,546,721 (GRCm39)	R119W	probably damaging	Het
Gtf2ird2	T	G	5: 134,225,407 (GRCm39)	I165S	probably damaging	Het
Itih1	T	A	14: 30,657,833 (GRCm39)	I417F	probably damaging	Het
Jarid2	G	T	13: 44,994,326 (GRCm39)	V13L		Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lpp	T	A	16: 24,580,889 (GRCm39)	W327R	probably benign	Het
Msrb2	T	A	2: 19,383,041 (GRCm39)	F56I	possibly damaging	Het
Muc16	A	G	9: 18,554,305 (GRCm39)	I3996T	unknown	Het
Myh4	C	A	11: 67,139,573 (GRCm39)	A630E	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Oacyl	T	A	18: 65,840,484 (GRCm39)	F85Y	probably damaging	Het
Or5ac24	C	T	16: 59,165,530 (GRCm39)	C178Y	probably damaging	Het
Or5b118	T	A	19: 13,448,670 (GRCm39)	I70N	probably damaging	Het
Or6c69b	T	A	10: 129,626,727 (GRCm39)	I244F	possibly damaging	Het
Pcdha11	A	C	18: 37,139,877 (GRCm39)	E502A	possibly damaging	Het
Pcnx3	T	C	19: 5,717,582 (GRCm39)	E1509G	possibly damaging	Het
Pfkm	A	T	15: 98,021,680 (GRCm39)	S314C	probably damaging	Het
Plch1	T	C	3: 63,674,924 (GRCm39)	H230R	probably damaging	Het
Ppfia4	A	T	1: 134,251,893 (GRCm39)	V427E	possibly damaging	Het
Ppox	TCTTATACCTGGAC	TC	1: 171,105,447 (GRCm39)		probably benign	Het
Prr11	G	A	11: 86,992,249 (GRCm39)	P209S	probably damaging	Het
Prrc2b	C	A	2: 32,109,304 (GRCm39)	Q1690K	probably damaging	Het
Rgs3	A	T	4: 62,620,465 (GRCm39)	M564L	probably benign	Het
Sec24d	T	C	3: 123,149,452 (GRCm39)	Y820H	probably damaging	Het
Six4	A	C	12: 73,159,498 (GRCm39)	I154S	possibly damaging	Het
Spata31e4	A	T	13: 50,856,276 (GRCm39)	H638L	probably benign	Het
Spock3	A	G	8: 63,801,989 (GRCm39)	K323E	probably damaging	Het
Stmn4	A	T	14: 66,596,126 (GRCm39)		probably null	Het
Tafa2	A	G	10: 123,429,421 (GRCm39)	K12E	probably benign	Het
Tanc2	C	T	11: 105,689,518 (GRCm39)	R227*	probably null	Het
Trmt5	A	T	12: 73,328,038 (GRCm39)	F388L	probably damaging	Het
Tsc2	G	T	17: 24,822,164 (GRCm39)	P1126H	probably benign	Het
Ttn	T	A	2: 76,612,720 (GRCm39)	I17120F	probably damaging	Het
Ttn	T	G	2: 76,778,270 (GRCm39)	K1372N	unknown	Het
U2surp	T	C	9: 95,359,563 (GRCm39)	T652A	probably benign	Het
Utp20	A	G	10: 88,592,972 (GRCm39)	V2239A	probably benign	Het
Vps33b	A	G	7: 79,935,339 (GRCm39)	T356A	probably damaging	Het
Vwf	C	A	6: 125,623,262 (GRCm39)	H1786Q		Het
Wwox	A	G	8: 115,215,682 (GRCm39)	I152V	probably benign	Het
Ythdc2	A	G	18: 44,977,418 (GRCm39)	T405A	probably benign	Het
Zfpm2	A	T	15: 40,962,712 (GRCm39)	I257F	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
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
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
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'- GGTGGTATATATGCACAAGTCAC -3'
(R):5'- TTGGTCCCAAATGCACATAATTCC -3'

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

Posted On

2021-11-19