Mutagenetix > Incidental Mutation

Incidental Mutation 'R9338:Cct3'

707289

Institutional Source

Beutler Lab

Gene Symbol

Cct3

Ensembl Gene

ENSMUSG00000001416

Gene Name

chaperonin containing TCP1 subunit 3

Synonyms

TriC-P5, Tcp1-rs3, Cctg

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88204442-88229073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88225706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 343 (V343A)

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 benign
Transcript: ENSMUST00000001452
AA Change: V343A

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000001452
Gene: ENSMUSG00000001416
AA Change: V343A

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: V200A

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

possibly damaging
Transcript: ENSMUST00000164166
AA Change: V305A

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126109
Gene: ENSMUSG00000001416
AA Change: V305A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168062
AA Change: V343A

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131113
Gene: ENSMUSG00000001416
AA Change: V343A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168971

SMART Domains

Protein: ENSMUSP00000131250
Gene: ENSMUSG00000001416

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	1	38	5.6e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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 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
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adam30	G	A	3: 98,070,129 (GRCm39)	G654D	probably damaging	Het
Col11a2	A	G	17: 34,266,204 (GRCm39)	T358A	unknown	Het
Cox6a2	T	C	7: 127,804,914 (GRCm39)	Y94C	probably damaging	Het
Cubn	T	A	2: 13,386,703 (GRCm39)	I1521F	probably damaging	Het
Dclk3	C	A	9: 111,268,373 (GRCm39)	A14E	unknown	Het
Dlgap2	T	C	8: 14,229,683 (GRCm39)		probably null	Het
Dop1b	C	A	16: 93,600,448 (GRCm39)	Q2042K	probably damaging	Het
Ech1	A	G	7: 28,525,427 (GRCm39)	S61G	probably null	Het
Ext2	T	A	2: 93,526,603 (GRCm39)	N678Y	probably damaging	Het
Fgfr2	G	T	7: 129,863,561 (GRCm39)	C28*	probably null	Het
Gon4l	C	A	3: 88,809,019 (GRCm39)	D1754E	probably benign	Het
Hivep2	T	A	10: 14,004,693 (GRCm39)	C430*	probably null	Het
Htr7	C	T	19: 35,941,780 (GRCm39)		probably null	Het
Idh3b	A	T	2: 130,122,392 (GRCm39)	M331K	probably damaging	Het
Ighv2-7	A	T	12: 113,771,118 (GRCm39)	F56I	probably benign	Het
Inpp5k	C	T	11: 75,536,411 (GRCm39)	H330Y	probably damaging	Het
Kif26b	T	C	1: 178,744,058 (GRCm39)	Y1385H	probably damaging	Het
Mad1l1	A	G	5: 140,074,561 (GRCm39)	L543P	probably damaging	Het
Mdn1	A	T	4: 32,666,536 (GRCm39)	H158L	probably benign	Het
Mpp2	T	A	11: 101,951,249 (GRCm39)	T511S	probably benign	Het
Msantd5f6	T	C	4: 73,320,245 (GRCm39)	E178G	possibly damaging	Het
Msh4	T	C	3: 153,573,444 (GRCm39)	I737V	possibly damaging	Het
Myo15b	T	C	11: 115,762,238 (GRCm39)	L1186P		Het
Nckap1l	A	G	15: 103,379,991 (GRCm39)	T346A	probably benign	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Npy5r	T	C	8: 67,134,658 (GRCm39)	N45S	probably benign	Het
Or6c202	T	C	10: 128,996,610 (GRCm39)	N81S	probably benign	Het
Pde6a	G	A	18: 61,354,109 (GRCm39)	A145T	probably damaging	Het
Pfkp	A	C	13: 6,634,724 (GRCm39)	S678A	probably damaging	Het
Phxr2	A	G	10: 98,962,043 (GRCm39)		probably benign	Het
Pi4ka	C	A	16: 17,135,227 (GRCm39)	L942F		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pla2g4e	T	A	2: 120,019,914 (GRCm39)	T179S	probably benign	Het
Popdc2	G	A	16: 38,194,509 (GRCm39)	C310Y	probably benign	Het
Ppip5k1	C	T	2: 121,153,827 (GRCm39)	R113Q		Het
Prmt7	C	T	8: 106,961,665 (GRCm39)	R193C	unknown	Het
Prph	G	C	15: 98,955,359 (GRCm39)	R442P	probably damaging	Het
Prrc2b	A	G	2: 32,098,779 (GRCm39)	Y697C	probably damaging	Het
Ptprm	T	A	17: 67,069,143 (GRCm39)	R962S	probably damaging	Het
Raph1	A	G	1: 60,529,300 (GRCm39)	S654P	unknown	Het
Reln	A	G	5: 22,202,937 (GRCm39)	F1288L	probably damaging	Het
Rhot1	T	A	11: 80,145,568 (GRCm39)	I553N	probably benign	Het
Rnf168	T	C	16: 32,110,801 (GRCm39)		probably null	Het
Slamf6	T	A	1: 171,747,157 (GRCm39)		probably benign	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
Taf4b	C	T	18: 14,954,555 (GRCm39)	P544S	probably benign	Het
Tbc1d24	A	G	17: 24,427,377 (GRCm39)	V195A	probably benign	Het
Tomm70a	A	G	16: 56,942,399 (GRCm39)	M59V	probably benign	Het
Trip12	A	G	1: 84,727,019 (GRCm39)	S1184P	probably damaging	Het
Trrap	A	G	5: 144,727,925 (GRCm39)	S549G	probably benign	Het
Unc5d	T	A	8: 29,709,471 (GRCm39)		probably benign	Het
Ush2a	G	A	1: 188,308,489 (GRCm39)		probably null	Het
Usp45	T	C	4: 21,784,755 (GRCm39)	V147A	probably damaging	Het
Vmn2r77	T	A	7: 86,460,994 (GRCm39)	N773K	probably damaging	Het
Vps13c	A	T	9: 67,858,977 (GRCm39)	N2809I	probably damaging	Het
Yeats2	T	A	16: 20,032,078 (GRCm39)	S984R	possibly damaging	Het
Yeats2	T	A	16: 20,041,533 (GRCm39)	L1141Q	probably damaging	Het
Zfp58	T	A	13: 67,639,394 (GRCm39)	T366S	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCTGTGCATGTGTTTCATTAC -3'
(R):5'- GAACAATGTCCTCCCCTTGG -3'

Sequencing Primer
(F):5'- CAGAAACTTGGCCTGTATGC -3'
(R):5'- TTGGTCACACTGCCAAGG -3'

Posted On

2022-04-18