Mutagenetix > Incidental Mutation

Incidental Mutation 'R0452:Tcp1'

39723

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

038652-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R0452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13135216-13143954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13143239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 516 (F516S)

Ref Sequence

ENSEMBL: ENSMUSP00000116108 (fasta)

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000082703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083171

Predicted Effect

probably benign
Transcript: ENSMUST00000089024
AA Change: F467S

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039
AA Change: F467S

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

noncoding transcript
Transcript: ENSMUST00000134665

Predicted Effect

probably benign
Transcript: ENSMUST00000151287
AA Change: F516S

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039
AA Change: F516S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138709

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

0.3306

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

99% (93/94)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	G	8: 107,233,822 (GRCm39)		probably benign	Het
Acap3	C	A	4: 155,986,785 (GRCm39)	S347*	probably null	Het
Acvr1	G	A	2: 58,390,507 (GRCm39)	P19L	probably benign	Het
Add2	G	T	6: 86,081,611 (GRCm39)	E366*	probably null	Het
Ankrd28	C	A	14: 31,470,695 (GRCm39)	A153S	probably damaging	Het
Anxa8	A	T	14: 33,816,727 (GRCm39)	I206F	probably damaging	Het
Arhgef4	G	A	1: 34,771,403 (GRCm39)	E1237K	probably damaging	Het
Arid1a	C	T	4: 133,416,416 (GRCm39)	A1120T	unknown	Het
Atad5	T	C	11: 79,997,247 (GRCm39)	V857A	probably damaging	Het
Atp2a3	T	A	11: 72,868,058 (GRCm39)		probably null	Het
Atxn1l	C	T	8: 110,459,027 (GRCm39)	V412I	possibly damaging	Het
Card11	A	G	5: 140,866,125 (GRCm39)	S923P	probably benign	Het
Cars1	C	A	7: 143,146,362 (GRCm39)	E21*	probably null	Het
Ccdc115	A	G	1: 34,476,702 (GRCm39)		probably benign	Het
Ccnj	T	A	19: 40,833,508 (GRCm39)		probably null	Het
Cds2	C	T	2: 132,140,399 (GRCm39)	T182I	probably damaging	Het
Ceacam14	A	G	7: 17,549,248 (GRCm39)	H213R	probably benign	Het
Cfap44	A	T	16: 44,252,308 (GRCm39)	M806L	probably benign	Het
Chd8	A	T	14: 52,452,044 (GRCm39)	I1317K	probably damaging	Het
Cherp	A	T	8: 73,215,366 (GRCm39)		probably benign	Het
Creb5	C	G	6: 53,581,527 (GRCm39)	T30S	possibly damaging	Het
Csf2ra	A	G	19: 61,215,333 (GRCm39)	M94T	probably benign	Het
Cyp2b19	A	C	7: 26,466,187 (GRCm39)	D330A	probably benign	Het
Ddost	G	A	4: 138,037,499 (GRCm39)	V188M	possibly damaging	Het
Dnah7a	A	T	1: 53,644,978 (GRCm39)	D1019E	probably benign	Het
Dtx1	A	T	5: 120,833,057 (GRCm39)	I127N	possibly damaging	Het
Dyrk2	T	C	10: 118,704,668 (GRCm39)	T3A	possibly damaging	Het
Elovl5	C	T	9: 77,868,193 (GRCm39)	T35M	probably damaging	Het
Emc7	T	C	2: 112,297,314 (GRCm39)		probably benign	Het
Erp27	T	C	6: 136,886,487 (GRCm39)	Y182C	probably damaging	Het
Exoc2	T	A	13: 31,070,310 (GRCm39)		probably benign	Het
F5	A	C	1: 164,012,676 (GRCm39)	D530A	probably damaging	Het
Fam149a	A	T	8: 45,808,686 (GRCm39)	V149E	probably damaging	Het
Fbxo41	A	G	6: 85,455,164 (GRCm39)	S614P	probably damaging	Het
Fmn1	T	A	2: 113,467,124 (GRCm39)	Y1342N	possibly damaging	Het
Gpr22	T	A	12: 31,758,793 (GRCm39)	D443V	possibly damaging	Het
Il17rd	T	A	14: 26,813,888 (GRCm39)	W56R	probably damaging	Het
Itga2b	A	T	11: 102,356,779 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,091,261 (GRCm39)	M2514T	probably benign	Het
Klk1b9	T	C	7: 43,443,675 (GRCm39)		probably benign	Het
Krr1	T	C	10: 111,811,503 (GRCm39)	Y66H	probably damaging	Het
Lamb2	T	C	9: 108,363,553 (GRCm39)		probably benign	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrp10	T	C	14: 54,705,036 (GRCm39)	V113A	probably benign	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Nisch	T	A	14: 30,899,421 (GRCm39)		probably benign	Het
Nlrp4d	G	A	7: 10,112,219 (GRCm39)	T650I	probably benign	Het
Or4f61	T	A	2: 111,922,981 (GRCm39)	K22*	probably null	Het
Or5p78	C	T	7: 108,211,577 (GRCm39)	T21I	possibly damaging	Het
Parp4	A	G	14: 56,886,300 (GRCm39)	D1793G	unknown	Het
Pcm1	A	G	8: 41,778,942 (GRCm39)	D1850G	probably benign	Het
Pgap2	G	A	7: 101,885,669 (GRCm39)	A145T	probably damaging	Het
Phc1	G	A	6: 122,299,995 (GRCm39)	A583V	probably damaging	Het
Plcd3	G	A	11: 102,962,085 (GRCm39)		probably benign	Het
Ppm1m	T	A	9: 106,074,501 (GRCm39)	Q214L	probably damaging	Het
Prkg2	A	G	5: 99,145,379 (GRCm39)		probably benign	Het
Prss3l	A	G	6: 41,422,271 (GRCm39)	Y45H	probably benign	Het
Rasal3	T	C	17: 32,614,791 (GRCm39)		probably benign	Het
Rfc1	A	T	5: 65,421,640 (GRCm39)	D1086E	probably benign	Het
Rnf145	T	A	11: 44,452,587 (GRCm39)	L522H	probably damaging	Het
Setd2	T	A	9: 110,382,168 (GRCm39)		probably null	Het
Sik1	C	A	17: 32,068,055 (GRCm39)	V377F	possibly damaging	Het
Slc44a4	T	C	17: 35,147,071 (GRCm39)	I367T	possibly damaging	Het
Slfn3	A	G	11: 83,103,954 (GRCm39)	D275G	possibly damaging	Het
Smarcad1	A	T	6: 65,051,806 (GRCm39)	N313I	possibly damaging	Het
Smc4	A	T	3: 68,915,361 (GRCm39)	K138*	probably null	Het
Smg6	T	A	11: 74,821,039 (GRCm39)	S437T	probably benign	Het
Spaca9	G	T	2: 28,586,005 (GRCm39)	Q20K	probably damaging	Het
Spatc1	T	G	15: 76,152,493 (GRCm39)	I41S	probably damaging	Het
Spink5	A	T	18: 44,096,385 (GRCm39)	T5S	possibly damaging	Het
St3gal1	C	A	15: 66,981,504 (GRCm39)		probably benign	Het
Stat5a	C	A	11: 100,753,961 (GRCm39)	T97K	probably benign	Het
Stat5b	A	T	11: 100,689,156 (GRCm39)	I246N	probably benign	Het
Supt6	G	T	11: 78,117,829 (GRCm39)	D462E	probably damaging	Het
Swi5	A	T	2: 32,171,836 (GRCm39)		probably benign	Het
Syne1	A	T	10: 5,355,435 (GRCm39)	V375E	probably damaging	Het
Tdrd7	A	T	4: 45,965,488 (GRCm39)		probably benign	Het
Tgfbr3	A	T	5: 107,288,289 (GRCm39)	N457K	probably benign	Het
Tmem209	A	G	6: 30,487,380 (GRCm39)	M500T	probably damaging	Het
Tmem44	C	T	16: 30,336,281 (GRCm39)		probably benign	Het
Ttc21a	T	A	9: 119,768,220 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,701,454 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,666,347 (GRCm39)	I88F	possibly damaging	Het
Ube2w	T	C	1: 16,672,479 (GRCm39)		probably benign	Het
Ufc1	C	T	1: 171,117,527 (GRCm39)		probably benign	Het
Uhmk1	A	G	1: 170,039,971 (GRCm39)	M132T	possibly damaging	Het
Usp29	A	G	7: 6,966,181 (GRCm39)	N675D	possibly damaging	Het
Vmn1r23	A	G	6: 57,903,469 (GRCm39)	V103A	possibly damaging	Het
Wdr59	G	T	8: 112,248,604 (GRCm39)	R4S	possibly damaging	Het
Zc3hav1	T	A	6: 38,284,372 (GRCm39)	E914D	probably benign	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
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'- TGTCAGCTATTCTTCTCCCAGAGGC -3'
(R):5'- AATGTGAGACACCCAAGGCTACGG -3'

Sequencing Primer
(F):5'- CTCCCACAGTCTTTTGGACTAGA -3'
(R):5'- AAGGCTACGGCATTGCAC -3'

Posted On

2013-05-23