Mutagenetix > Incidental Mutation

Incidental Mutation 'R7230:Cct3'

562409

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

045302-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7230 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88204442-88229073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88220567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 260 (R260W)

Ref Sequence

ENSEMBL: ENSMUSP00000001452 (fasta)

Gene Model

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

AlphaFold

P80318

PDB Structure

CRYSTAL STRUCTURE OF THE MOUSE CCT GAMMA APICAL DOMAIN (TRICLINIC) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE MOUSE CCT GAMMA APICAL DOMAIN (MONOCLINIC) [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000001452
AA Change: R260W

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001452
Gene: ENSMUSG00000001416
AA Change: R260W

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000130616
Gene: ENSMUSG00000001416
AA Change: R117W

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 damaging
Transcript: ENSMUST00000164166
AA Change: R222W

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126109
Gene: ENSMUSG00000001416
AA Change: R222W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168062
AA Change: R260W

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131113
Gene: ENSMUSG00000001416
AA Change: R260W

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	C	7: 45,766,812 (GRCm39)	D989E	probably benign	Het
Adad1	A	G	3: 37,119,315 (GRCm39)	Y132C	probably damaging	Het
Adam33	A	T	2: 130,895,483 (GRCm39)	C579S	probably damaging	Het
Adam6a	A	C	12: 113,509,202 (GRCm39)	Q525P	probably damaging	Het
Alpk3	C	T	7: 80,743,042 (GRCm39)	P953L	probably damaging	Het
Arb2a	G	A	13: 77,907,591 (GRCm39)	E5K	probably damaging	Het
Atat1	A	G	17: 36,220,331 (GRCm39)	S54P	probably damaging	Het
Bpgm	A	G	6: 34,464,502 (GRCm39)	E73G	possibly damaging	Het
Cab39	T	A	1: 85,775,880 (GRCm39)		probably null	Het
Ccdc162	A	G	10: 41,554,809 (GRCm39)	L285P	probably damaging	Het
Ccdc30	T	C	4: 119,196,979 (GRCm39)	E429G	possibly damaging	Het
Chd1	C	A	17: 15,927,199 (GRCm39)		probably null	Het
Cxcr4	T	G	1: 128,517,527 (GRCm39)	T45P	probably damaging	Het
Disp2	G	T	2: 118,622,286 (GRCm39)	R1006L	probably damaging	Het
Dlec1	T	G	9: 118,953,606 (GRCm39)		probably null	Het
Dram2	T	G	3: 106,480,294 (GRCm39)	Y202*	probably null	Het
Etl4	C	A	2: 20,802,799 (GRCm39)	T1035K	probably damaging	Het
F5	T	C	1: 164,012,522 (GRCm39)	F479L	probably benign	Het
Frrs1l	C	A	4: 56,972,372 (GRCm39)	G110W	probably damaging	Het
Gpbp1l1	T	A	4: 116,445,807 (GRCm39)	I303N	probably damaging	Het
Grik5	A	G	7: 24,722,495 (GRCm39)	F538S	probably damaging	Het
Hgsnat	C	A	8: 26,444,860 (GRCm39)		probably null	Het
Hs2st1	T	C	3: 144,140,307 (GRCm39)	D338G	probably benign	Het
Impdh1	T	C	6: 29,206,062 (GRCm39)		probably null	Het
Ipo9	T	C	1: 135,334,496 (GRCm39)		probably benign	Het
Kdm4b	T	G	17: 56,676,155 (GRCm39)	L220R	probably damaging	Het
Map1a	T	A	2: 121,131,299 (GRCm39)	F705Y	probably damaging	Het
Med22	C	T	2: 26,798,223 (GRCm39)	D99N	probably benign	Het
Muc6	T	C	7: 141,235,479 (GRCm39)	Y519C	probably damaging	Het
Myt1l	A	G	12: 29,833,873 (GRCm39)	I25M	probably damaging	Het
Ncam1	T	A	9: 49,421,123 (GRCm39)	I731F	probably benign	Het
Nlrp4f	T	A	13: 65,342,715 (GRCm39)	H310L	probably benign	Het
Or2ag1b	A	T	7: 106,288,731 (GRCm39)	M69K	possibly damaging	Het
Or2ag2b	C	A	7: 106,417,386 (GRCm39)	T32K	possibly damaging	Het
Or4f14	T	A	2: 111,742,906 (GRCm39)	Y123F	probably damaging	Het
Or4k40	A	T	2: 111,251,261 (GRCm39)	F12I	probably damaging	Het
Prl8a6	T	A	13: 27,617,021 (GRCm39)	Y223F	probably benign	Het
Prss39	A	G	1: 34,541,228 (GRCm39)	D244G	probably damaging	Het
Ptx4	A	T	17: 25,342,077 (GRCm39)	Q184L	possibly damaging	Het
Slc26a1	A	T	5: 108,819,611 (GRCm39)	D545E	probably damaging	Het
Slc7a12	T	C	3: 14,570,441 (GRCm39)	S398P	probably damaging	Het
Slc9a4	T	C	1: 40,639,931 (GRCm39)	V241A	probably damaging	Het
Snw1	T	C	12: 87,511,324 (GRCm39)	D109G	probably damaging	Het
Syne2	T	A	12: 75,980,674 (GRCm39)	I1477K	probably benign	Het
Timd4	A	T	11: 46,701,691 (GRCm39)	Y18F	probably benign	Het
Tmprss2	A	G	16: 97,379,797 (GRCm39)	Y168H	probably benign	Het
Ttn	A	T	2: 76,569,044 (GRCm39)	I27283K	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Vasn	C	T	16: 4,467,486 (GRCm39)	R478C	probably benign	Het
Zfp58	A	T	13: 67,640,082 (GRCm39)	C136*	probably null	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
R5089:Cct3	UTSW	3	88,208,150 (GRCm39)	missense	probably damaging	1.00
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
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'- AGTGACTGGGATGACATCAGC -3'
(R):5'- TGTCTTTGCCAACCCAAGAG -3'

Sequencing Primer
(F):5'- GATGACATCAGCCTGGGG -3'
(R):5'- TCTTTGCCAACCCAAGAGACAAAAC -3'

Posted On

2019-06-26