Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01624:Tcp1'

92635

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcp1

Ensembl Gene

ENSMUSG00000068039

Gene Name

t-complex protein 1

Synonyms

c-cpn, TRic, p63, Ccta, Tp63, CCT, Cct1, Tcp-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

IGL01624

Quality Score

Status

Chromosome

Chromosomal Location

13135216-13143954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13138812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 163 (I163K)

Ref Sequence

ENSEMBL: ENSMUSP00000116108 (fasta)

Gene Model

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

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: I114K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039
AA Change: I114K

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: I163K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039
AA Change: I163K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162928

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

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

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,341,205 (GRCm39)	T18I	probably damaging	Het
Acod1	A	G	14: 103,292,669 (GRCm39)	T398A	probably benign	Het
Adgrl2	A	G	3: 148,542,163 (GRCm39)	V853A	probably damaging	Het
Ankhd1	T	C	18: 36,791,066 (GRCm39)	S2488P	probably damaging	Het
Ankrd28	T	C	14: 31,432,814 (GRCm39)	I578V	probably benign	Het
Atp2c2	A	C	8: 120,484,189 (GRCm39)	R933S	probably benign	Het
Cyp26a1	A	T	19: 37,686,781 (GRCm39)	I78F	possibly damaging	Het
Gck	A	G	11: 5,853,106 (GRCm39)	V338A	possibly damaging	Het
Ints6	A	T	14: 62,934,320 (GRCm39)	M729K	probably benign	Het
Kank2	C	A	9: 21,691,676 (GRCm39)	G500W	probably damaging	Het
Kansl1	G	A	11: 104,315,378 (GRCm39)	T220I	probably benign	Het
Lgi4	T	C	7: 30,767,113 (GRCm39)	L380P	probably damaging	Het
Lhx9	G	T	1: 138,760,521 (GRCm39)	Y276*	probably null	Het
Lipm	T	A	19: 34,098,545 (GRCm39)	Y340N	probably damaging	Het
Mlxip	A	G	5: 123,533,392 (GRCm39)	T134A	probably benign	Het
Nwd2	A	T	5: 63,964,153 (GRCm39)	I1246F	probably damaging	Het
Or14j3	A	T	17: 37,900,816 (GRCm39)	W143R	probably benign	Het
Or6c69c	T	A	10: 129,910,519 (GRCm39)	L80H	probably damaging	Het
Or8h9	A	G	2: 86,789,574 (GRCm39)	V76A	probably benign	Het
Rbm44	T	A	1: 91,084,380 (GRCm39)	N601K	probably damaging	Het
Rgs4	T	A	1: 169,572,047 (GRCm39)	Y84F	probably benign	Het
Scn7a	T	C	2: 66,582,269 (GRCm39)	T131A	probably benign	Het
Slc34a1	A	G	13: 23,998,969 (GRCm39)	I121V	probably benign	Het
Slitrk5	T	A	14: 111,918,526 (GRCm39)	Y717N	probably damaging	Het
Sox6	A	G	7: 115,076,203 (GRCm39)	S770P	probably damaging	Het
Spata31	T	C	13: 65,069,399 (GRCm39)	W516R	probably damaging	Het
Sugt1	A	G	14: 79,834,230 (GRCm39)	N77S	probably benign	Het
Sumf1	C	T	6: 108,130,162 (GRCm39)	D186N	probably damaging	Het
Syde2	T	C	3: 145,712,790 (GRCm39)	L709S	probably damaging	Het
Upf2	A	T	2: 6,038,990 (GRCm39)	E287D	probably benign	Het
Usp17lb	A	G	7: 104,491,720 (GRCm39)		probably benign	Het
Vmn2r10	G	A	5: 109,154,112 (GRCm39)	S64F	possibly damaging	Het

Other mutations in Tcp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-09