Mutagenetix > Incidental Mutation

Incidental Mutation 'R5089:Cct3'

387627

Institutional Source

Beutler Lab

Gene Symbol

Cct3

Ensembl Gene

ENSMUSG00000001416

Gene Name

chaperonin containing TCP1 subunit 3

Synonyms

TriC-P5, Tcp1-rs3, Cctg

MMRRC Submission

042678-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5089 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88204442-88229073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 88208150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 46 (M46R)

Ref Sequence

ENSEMBL: ENSMUSP00000131113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001452] [ENSMUST00000010682] [ENSMUST00000107556] [ENSMUST00000164166] [ENSMUST00000168062]

AlphaFold

P80318

Predicted Effect

probably damaging
Transcript: ENSMUST00000001452
AA Change: M46R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001452
Gene: ENSMUSG00000001416
AA Change: M46R

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	33	527	3.2e-171	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000010682

Predicted Effect

probably benign
Transcript: ENSMUST00000107556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123536

Predicted Effect

probably benign
Transcript: ENSMUST00000163735

SMART Domains

Protein: ENSMUSP00000130616
Gene: ENSMUSG00000001416

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	2	115	4.7e-22	PFAM
Pfam:Cpn60_TCP1	106	306	8.4e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164166

SMART Domains

Protein: ENSMUSP00000126109
Gene: ENSMUSG00000001416

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	15	489	1.7e-144	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164783

Predicted Effect

probably damaging
Transcript: ENSMUST00000168062
AA Change: M46R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131113
Gene: ENSMUSG00000001416
AA Change: M46R

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	33	520	2.3e-157	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193666

Meta Mutation Damage Score

0.9576

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (65/66)

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 have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit lethality at E8. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 117,698,672 (GRCm39)	N145S	possibly damaging	Het
Acp2	T	C	2: 91,042,267 (GRCm39)		probably benign	Het
Adgrf2	G	A	17: 43,020,988 (GRCm39)	A612V	probably benign	Het
Bltp1	T	A	3: 37,041,651 (GRCm39)	D2676E	probably benign	Het
Cdc123	T	C	2: 5,809,811 (GRCm39)	D200G	probably benign	Het
Cdh9	T	A	15: 16,778,362 (GRCm39)	F59Y	probably damaging	Het
Cluh	A	G	11: 74,551,198 (GRCm39)	E349G	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Crbn	T	C	6: 106,758,679 (GRCm39)	H381R	possibly damaging	Het
Crim1	A	G	17: 78,681,519 (GRCm39)	D991G	probably damaging	Het
Dhx16	A	T	17: 36,194,981 (GRCm39)	M503L	probably damaging	Het
Dthd1	A	G	5: 63,007,248 (GRCm39)	T650A	probably benign	Het
Etfa	T	A	9: 55,396,150 (GRCm39)	K139*	probably null	Het
Flnc	T	C	6: 29,447,812 (GRCm39)	I1205T	probably damaging	Het
Fzd6	T	A	15: 38,870,875 (GRCm39)	C32S	probably damaging	Het
Gm1110	T	A	9: 26,793,683 (GRCm39)	D515V	probably damaging	Het
Gm7676	T	C	8: 13,946,401 (GRCm39)		noncoding transcript	Het
Gpr157	T	C	4: 150,186,750 (GRCm39)	S293P	possibly damaging	Het
Hc	T	C	2: 34,914,902 (GRCm39)	D810G	probably benign	Het
Helz2	T	C	2: 180,876,942 (GRCm39)	H1184R	probably benign	Het
Hoxc5	A	T	15: 102,922,487 (GRCm39)		probably benign	Het
Iah1	C	T	12: 21,373,309 (GRCm39)	S196L	possibly damaging	Het
Il5	C	T	11: 53,612,655 (GRCm39)	T55I	possibly damaging	Het
Kras	T	C	6: 145,170,869 (GRCm39)	K169E	probably benign	Het
Larp1	C	A	11: 57,938,693 (GRCm39)	T492K	possibly damaging	Het
Lgr5	T	C	10: 115,314,328 (GRCm39)	D203G	probably damaging	Het
Lpcat2	G	A	8: 93,606,071 (GRCm39)	V241M	probably damaging	Het
Mpeg1	G	A	19: 12,440,361 (GRCm39)	M606I	probably benign	Het
Ms4a1	G	A	19: 11,236,176 (GRCm39)	P4S	probably benign	Het
Nat10	A	T	2: 103,587,488 (GRCm39)		probably benign	Het
Ncaph2	T	A	15: 89,240,148 (GRCm39)		probably null	Het
Nfat5	T	A	8: 108,078,070 (GRCm39)	V403D	probably damaging	Het
Or2y10	T	A	11: 49,455,240 (GRCm39)	M164K	possibly damaging	Het
Or4c109	A	G	2: 88,818,516 (GRCm39)	F10S	probably damaging	Het
Pax7	T	C	4: 139,557,576 (GRCm39)	H65R	probably damaging	Het
Phf20	C	A	2: 156,144,782 (GRCm39)	H797N	probably benign	Het
Pkhd1l1	T	A	15: 44,455,283 (GRCm39)	S4015T	probably benign	Het
Prdm5	C	T	6: 65,833,074 (GRCm39)	H148Y	probably benign	Het
Prpf8	A	G	11: 75,400,054 (GRCm39)		probably null	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Sardh	A	G	2: 27,129,625 (GRCm39)		probably null	Het
Serpinb6b	G	A	13: 33,162,133 (GRCm39)	E192K	probably benign	Het
Shfl	A	T	9: 20,780,212 (GRCm39)	M1L	probably benign	Het
Skor1	A	G	9: 63,053,205 (GRCm39)	S216P	probably damaging	Het
Slc51a	A	G	16: 32,296,364 (GRCm39)		probably null	Het
Smarcb1	T	C	10: 75,751,013 (GRCm39)	T74A	probably benign	Het
Spg11	A	T	2: 121,945,198 (GRCm39)	Y107*	probably null	Het
Spmip5	A	T	19: 58,774,678 (GRCm39)	L176H	probably damaging	Het
Stk25	T	A	1: 93,552,330 (GRCm39)	K350M	probably benign	Het
Syne1	C	T	10: 5,355,444 (GRCm39)	W379*	probably null	Het
Taco1	A	T	11: 105,960,437 (GRCm39)	E126V	probably benign	Het
Tbc1d12	T	A	19: 38,905,232 (GRCm39)	L649*	probably null	Het
Trpm3	G	A	19: 22,744,120 (GRCm39)	G238R	probably damaging	Het
Yy1	C	A	12: 108,759,663 (GRCm39)	Q109K	probably damaging	Het

Other mutations in Cct3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0068:Cct3	UTSW	3	88,225,772 (GRCm39)	missense	probably benign	0.05
R0068:Cct3	UTSW	3	88,225,772 (GRCm39)	missense	probably benign	0.05
R0454:Cct3	UTSW	3	88,210,173 (GRCm39)	critical splice donor site	probably null
R0799:Cct3	UTSW	3	88,206,652 (GRCm39)	splice site	probably null
R0883:Cct3	UTSW	3	88,220,864 (GRCm39)	missense	probably damaging	1.00
R1202:Cct3	UTSW	3	88,225,835 (GRCm39)	critical splice donor site	probably null
R3889:Cct3	UTSW	3	88,228,334 (GRCm39)	missense	probably benign	0.00
R4766:Cct3	UTSW	3	88,219,092 (GRCm39)	nonsense	probably null
R5224:Cct3	UTSW	3	88,204,532 (GRCm39)	utr 5 prime	probably benign
R5263:Cct3	UTSW	3	88,228,672 (GRCm39)	critical splice donor site	probably null
R5772:Cct3	UTSW	3	88,208,274 (GRCm39)	missense	probably damaging	1.00
R6026:Cct3	UTSW	3	88,219,029 (GRCm39)	missense	possibly damaging	0.90
R7230:Cct3	UTSW	3	88,220,567 (GRCm39)	missense	probably damaging	0.99
R7423:Cct3	UTSW	3	88,216,503 (GRCm39)	missense	probably benign	0.05
R7810:Cct3	UTSW	3	88,228,442 (GRCm39)	missense	probably damaging	1.00
R8315:Cct3	UTSW	3	88,220,564 (GRCm39)	missense	probably benign	0.00
R8422:Cct3	UTSW	3	88,208,126 (GRCm39)	missense	probably damaging	1.00
R8431:Cct3	UTSW	3	88,225,831 (GRCm39)	missense	possibly damaging	0.68
R9290:Cct3	UTSW	3	88,216,536 (GRCm39)	missense	probably benign
R9295:Cct3	UTSW	3	88,212,430 (GRCm39)	missense	probably benign	0.00
R9338:Cct3	UTSW	3	88,225,706 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- AGTCTTTAAAACACTGGCTATGC -3'
(R):5'- TCATGCCTTGATAACCCTTGG -3'

Sequencing Primer
(F):5'- AATCAGAAGCAGGCCTGTCTCTG -3'
(R):5'- ACCCTTGGATTTCAGACAGG -3'

Posted On

2016-06-06