Mutagenetix > Incidental Mutation

Incidental Mutation 'R0799:Cct3'

76514

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

038979-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88204442-88229073 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 88206652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103180 (fasta)

Gene Model

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

AlphaFold

P80318

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001452
AA Change: Q12L

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000001452
Gene: ENSMUSG00000001416
AA Change: Q12L

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

Predicted Effect

probably null
Transcript: ENSMUST00000010682

Predicted Effect

probably null
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
AA Change: Q12L

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126109
Gene: ENSMUSG00000001416
AA Change: Q12L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164783

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168062
AA Change: Q12L

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131113
Gene: ENSMUSG00000001416
AA Change: Q12L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193666

Meta Mutation Damage Score

0.1397

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,100,101 (GRCm39)	T33I	possibly damaging	Het
4930555F03Rik	A	G	8: 49,948,474 (GRCm39)		noncoding transcript	Het
Abcf3	T	C	16: 20,378,084 (GRCm39)	L538P	probably damaging	Het
Adamts6	T	C	13: 104,450,779 (GRCm39)	S321P	probably damaging	Het
Adgra2	G	A	8: 27,602,523 (GRCm39)	R362H	probably damaging	Het
AI597479	T	G	1: 43,150,330 (GRCm39)	S147A	probably benign	Het
Ajm1	A	G	2: 25,468,574 (GRCm39)	S446P	possibly damaging	Het
Ampd3	T	C	7: 110,399,904 (GRCm39)	F340L	probably damaging	Het
Atad3a	A	G	4: 155,831,927 (GRCm39)	V449A	probably damaging	Het
Bmal2	T	C	6: 146,724,751 (GRCm39)		probably benign	Het
Bpifa6	A	T	2: 153,834,192 (GRCm39)	D328V	probably benign	Het
Brca2	T	C	5: 150,483,658 (GRCm39)	S2903P	probably damaging	Het
Cdk4	A	G	10: 126,900,863 (GRCm39)	T172A	probably damaging	Het
Chd5	A	G	4: 152,468,616 (GRCm39)	D1760G	probably damaging	Het
Chd7	A	G	4: 8,801,310 (GRCm39)		probably benign	Het
Crybb2	T	C	5: 113,210,037 (GRCm39)	I109V	probably benign	Het
Csmd3	A	G	15: 48,048,780 (GRCm39)		probably benign	Het
Dach1	G	T	14: 98,406,051 (GRCm39)	T232K	possibly damaging	Het
Dnlz	A	G	2: 26,241,485 (GRCm39)	V81A	possibly damaging	Het
Epb41l4b	A	G	4: 57,086,003 (GRCm39)	S191P	probably damaging	Het
Eps15l1	C	T	8: 73,099,929 (GRCm39)	D821N	probably damaging	Het
Fam186a	G	A	15: 99,839,893 (GRCm39)	P2117L	probably damaging	Het
Fam83d	T	A	2: 158,621,808 (GRCm39)	F173Y	probably damaging	Het
Gm9116	A	T	3: 93,817,772 (GRCm39)	R214S	probably benign	Het
Gtpbp1	A	G	15: 79,600,401 (GRCm39)	I445V	probably damaging	Het
H2-M2	G	A	17: 37,793,640 (GRCm39)	T122I	probably damaging	Het
Hgd	C	T	16: 37,448,971 (GRCm39)		probably benign	Het
Hip1r	A	G	5: 124,135,004 (GRCm39)	Y380C	probably benign	Het
Hspa8	G	A	9: 40,715,137 (GRCm39)	G389R	probably damaging	Het
Htt	C	A	5: 34,975,097 (GRCm39)	D622E	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kdm4a	A	G	4: 118,004,189 (GRCm39)		probably null	Het
Map3k9	G	A	12: 81,769,043 (GRCm39)	P1025S	probably benign	Het
Or8b47	G	A	9: 38,435,437 (GRCm39)	M136I	probably benign	Het
Pabpc1l	C	A	2: 163,873,134 (GRCm39)	H135N	probably benign	Het
Pacsin2	A	T	15: 83,263,998 (GRCm39)	S346R	probably benign	Het
Pcdhb20	A	G	18: 37,638,938 (GRCm39)	Y488C	probably damaging	Het
Pkdcc	G	A	17: 83,531,347 (GRCm39)	C452Y	probably damaging	Het
Poglut1	T	C	16: 38,355,083 (GRCm39)		probably null	Het
Prss59	A	G	6: 40,905,533 (GRCm39)	M41T	probably damaging	Het
Pxk	T	C	14: 8,148,123 (GRCm38)	F409L	probably benign	Het
Pygm	G	A	19: 6,436,048 (GRCm39)		probably benign	Het
Rabep2	T	C	7: 126,037,896 (GRCm39)	S223P	probably damaging	Het
Rpp40	C	T	13: 36,086,034 (GRCm39)	R109H	probably benign	Het
Sbf2	T	C	7: 109,940,562 (GRCm39)	Y1266C	possibly damaging	Het
Slc5a4a	T	C	10: 76,012,368 (GRCm39)	V346A	probably benign	Het
Smpd3	G	T	8: 106,991,421 (GRCm39)	H377Q	possibly damaging	Het
Sppl2a	C	A	2: 126,762,227 (GRCm39)		probably benign	Het
Tas2r134	T	C	2: 51,518,385 (GRCm39)	I288T	probably benign	Het
Trim35	T	A	14: 66,546,650 (GRCm39)	H472Q	probably damaging	Het
Trpm5	C	A	7: 142,632,088 (GRCm39)	R907L	probably damaging	Het
Ube2e2	G	T	14: 18,630,393 (GRCm38)	S56*	probably null	Het
Vmn2r88	A	C	14: 51,651,959 (GRCm39)	R432S	possibly damaging	Het
Wdr24	A	G	17: 26,045,102 (GRCm39)	Y279C	probably damaging	Het
Wdr90	A	G	17: 26,079,104 (GRCm39)	V246A	probably benign	Het
Xrn2	T	A	2: 146,871,818 (GRCm39)	N385K	probably benign	Het
Zfp28	T	A	7: 6,387,182 (GRCm39)	S73T	possibly damaging	Het
Zfp345	T	C	2: 150,314,271 (GRCm39)	E422G	probably benign	Het
Zhx2	A	G	15: 57,684,709 (GRCm39)	E26G	probably benign	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
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
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'- GTGGTAGGATGGCTCAACAGGTTTAAAA -3'
(R):5'- CTTCCTGTATCACCACCAGGGAAATG -3'

Sequencing Primer
(F):5'- tgtttgtttgtttgtttgtttgtttg -3'
(R):5'- AAAAGCAAGTTTTCCTCTGCTC -3'

Posted On

2013-10-16