Mutagenetix > Incidental Mutation

Incidental Mutation 'R9402:Tcp1'

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

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

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: ENSMUST00000089024
AA Change: L279Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039
AA Change: L279Q

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 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

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: 99.7%
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
(F):5'- GCTGTGCTCTAATAGATTTATAGAGCC -3'
(R):5'- ACCGCTCCTATCACTGACAG -3'

Sequencing Primer
(F):5'- GAGCCATTTTCTAGGTAGTTGAAAAC -3'
(R):5'- GCTCCTATCACTGACAGACTAGAG -3'

Posted On

2022-05-16