Mutagenetix > Incidental Mutation

Incidental Mutation 'R1678:Tcp1'

188309

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

039714-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R1678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13135216-13143954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13139310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 212 (N212K)

Ref Sequence

ENSEMBL: ENSMUSP00000116108 (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: N163K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039
AA Change: N163K

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: N212K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039
AA Change: N212K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134665

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,554,594 (GRCm39)	I120S	probably benign	Het
Abcb5	A	C	12: 118,929,064 (GRCm39)		probably benign	Het
Abcc4	T	A	14: 118,832,306 (GRCm39)	T775S	probably benign	Het
Acnat2	T	A	4: 49,380,568 (GRCm39)	Y270F	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Ankib1	A	G	5: 3,756,301 (GRCm39)	I548T	probably damaging	Het
Apbb1ip	A	T	2: 22,764,892 (GRCm39)		probably null	Het
Asb17	C	T	3: 153,550,004 (GRCm39)	S12F	probably damaging	Het
Atad2b	G	A	12: 5,015,899 (GRCm39)	V542I	possibly damaging	Het
Atxn7	T	C	14: 14,096,239 (GRCm38)	F515L	probably damaging	Het
Bicc1	A	G	10: 70,779,348 (GRCm39)	L680P	probably damaging	Het
Bpifb6	G	A	2: 153,750,562 (GRCm39)	R351H	probably damaging	Het
C4b	A	G	17: 34,962,624 (GRCm39)	F26S	probably benign	Het
Cadps	A	G	14: 12,517,802 (GRCm38)		probably null	Het
Capza1	G	T	3: 104,771,669 (GRCm39)	S9*	probably null	Het
Ccl11	C	T	11: 81,948,866 (GRCm39)	P25L	probably damaging	Het
Cdyl	A	T	13: 36,040,872 (GRCm39)	K306N	probably damaging	Het
Cnga3	T	C	1: 37,300,579 (GRCm39)	V471A	possibly damaging	Het
Col4a4	T	C	1: 82,464,380 (GRCm39)	K983E	unknown	Het
Cp	A	C	3: 20,026,881 (GRCm39)	K436N	probably damaging	Het
Csmd1	T	A	8: 15,968,252 (GRCm39)	D3125V	possibly damaging	Het
Daw1	A	T	1: 83,161,087 (GRCm39)	N143I	probably damaging	Het
Dmd	T	A	X: 84,018,368 (GRCm39)	I3067N	probably benign	Het
Dnaaf9	A	G	2: 130,656,193 (GRCm39)	V105A	probably damaging	Het
Dnah11	T	G	12: 117,897,580 (GRCm39)	N3550T	possibly damaging	Het
Dnm2	T	C	9: 21,378,828 (GRCm39)	V129A	possibly damaging	Het
Dync1h1	A	T	12: 110,632,096 (GRCm39)		probably null	Het
Dync2i1	A	G	12: 116,189,590 (GRCm39)	S640P	probably damaging	Het
Efemp1	G	A	11: 28,866,942 (GRCm39)	E325K	probably benign	Het
Enox1	A	G	14: 77,815,096 (GRCm39)	T85A	probably benign	Het
Faim2	C	A	15: 99,418,217 (GRCm39)	V123F	possibly damaging	Het
Fgfr2	T	C	7: 129,830,350 (GRCm39)		probably null	Het
Fign	T	C	2: 63,810,718 (GRCm39)	E184G	probably damaging	Het
Fnd3c2	T	C	X: 105,281,305 (GRCm39)	T799A	probably benign	Het
Frem2	T	C	3: 53,427,359 (GRCm39)	D2931G	probably damaging	Het
Fsip2	A	G	2: 82,816,689 (GRCm39)	T4141A	probably benign	Het
Gigyf2	T	A	1: 87,344,705 (GRCm39)	M546K	probably benign	Het
Gm21775	G	A	Y: 10,553,867 (GRCm39)	V139M	probably damaging	Het
Gpr83	G	T	9: 14,778,145 (GRCm39)	V172F	probably damaging	Het
Itprid1	G	T	6: 55,945,499 (GRCm39)	C740F	probably benign	Het
Jmjd4	A	G	11: 59,344,438 (GRCm39)	Y179C	probably damaging	Het
Kcnq3	A	G	15: 65,903,281 (GRCm39)	L143P	probably damaging	Het
Klhl41	T	C	2: 69,501,283 (GRCm39)	V248A	probably benign	Het
Lama1	T	C	17: 68,117,150 (GRCm39)	Y2482H	possibly damaging	Het
Lamb2	A	T	9: 108,360,885 (GRCm39)		probably null	Het
Lclat1	G	A	17: 73,503,715 (GRCm39)	G162R	probably damaging	Het
Map6	T	C	7: 98,917,305 (GRCm39)	V26A	probably damaging	Het
Mdn1	A	T	4: 32,663,050 (GRCm39)	D107V	probably damaging	Het
Metap1d	T	A	2: 71,355,121 (GRCm39)	V304D	possibly damaging	Het
Naca	A	G	10: 127,879,395 (GRCm39)		probably benign	Het
Napg	T	C	18: 63,117,143 (GRCm39)		probably null	Het
Nbeal1	T	A	1: 60,299,493 (GRCm39)	F7L	probably benign	Het
Ndst2	T	C	14: 20,774,582 (GRCm39)	T825A	probably benign	Het
Nsun2	T	C	13: 69,775,222 (GRCm39)	I353T	probably damaging	Het
Nt5c3b	T	A	11: 100,327,036 (GRCm39)	I87F	probably damaging	Het
Nxf3	T	C	X: 134,976,270 (GRCm39)	D407G	probably damaging	Het
Or51f2	T	A	7: 102,526,870 (GRCm39)	V181E	probably damaging	Het
Or8c13	A	T	9: 38,091,933 (GRCm39)	F62Y	possibly damaging	Het
Osbpl3	A	C	6: 50,313,193 (GRCm39)		probably null	Het
P2rx3	T	C	2: 84,852,811 (GRCm39)	T172A	possibly damaging	Het
Pcdh10	G	T	3: 45,336,316 (GRCm39)	E877*	probably null	Het
Pcdhb9	A	T	18: 37,534,682 (GRCm39)	K225N	probably damaging	Het
Plch1	A	G	3: 63,648,115 (GRCm39)	S419P	probably damaging	Het
Prex2	T	G	1: 11,355,313 (GRCm39)	I1538S	possibly damaging	Het
Prss59	C	A	6: 40,906,453 (GRCm39)		probably benign	Het
Rasl10a	A	G	11: 5,009,815 (GRCm39)	E121G	possibly damaging	Het
Rbbp8	A	G	18: 11,865,372 (GRCm39)	T754A	probably benign	Het
Rictor	T	C	15: 6,785,952 (GRCm39)	V156A	probably benign	Het
Ryr1	A	T	7: 28,815,579 (GRCm39)	Y104N	probably damaging	Het
Sctr	G	T	1: 119,964,169 (GRCm39)		probably null	Het
Sptbn2	T	C	19: 4,800,525 (GRCm39)	Y2247H	probably damaging	Het
Sqle	C	T	15: 59,196,358 (GRCm39)	R384W	probably damaging	Het
Srcin1	C	A	11: 97,409,470 (GRCm39)	R1163L	probably damaging	Het
Srp72	A	G	5: 77,128,154 (GRCm39)	Y125C	probably damaging	Het
Srrm2	T	C	17: 24,037,960 (GRCm39)	S1535P	probably benign	Het
Sumf2	A	G	5: 129,883,557 (GRCm39)	E125G	possibly damaging	Het
Tas2r144	A	T	6: 42,192,490 (GRCm39)	I77F	probably benign	Het
Tcerg1	T	C	18: 42,657,414 (GRCm39)	S299P	unknown	Het
Ttc7	G	T	17: 87,669,329 (GRCm39)	G659C	probably damaging	Het
Ttn	A	T	2: 76,691,903 (GRCm39)		probably null	Het
Ubtf	A	T	11: 102,199,804 (GRCm39)	D440E	probably benign	Het
Usp30	A	G	5: 114,259,207 (GRCm39)	D428G	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r58	G	A	7: 41,513,480 (GRCm39)	H388Y	probably benign	Het
Zbtb49	T	C	5: 38,371,038 (GRCm39)	D281G	probably damaging	Het
Zfp248	A	G	6: 118,406,765 (GRCm39)	S174P	probably benign	Het
Zswim9	T	C	7: 13,011,337 (GRCm39)	T4A	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
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
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'- tcagagacctgcctgcc -3'

Posted On

2014-05-09