Mutagenetix > Incidental Mutations

Incidental Mutation 'R6862:Cct6b'

535712

Institutional Source

Beutler Lab

Gene Symbol

Cct6b

Ensembl Gene

ENSMUSG00000020698

Gene Name

chaperonin containing Tcp1, subunit 6b (zeta)

Synonyms

CCTzeta-2, Cctz-2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

R6862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82719250-82764321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82719959 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 500 (V500E)

Ref Sequence

ENSEMBL: ENSMUSP00000021040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021040] [ENSMUST00000100722]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021040
AA Change: V500E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021040
Gene: ENSMUSG00000020698
AA Change: V500E

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	30	526	1.1e-161	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100722
AA Change: V461E

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

SMART Domains

Protein: ENSMUSP00000098288
Gene: ENSMUSG00000020698
AA Change: V461E

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	4	486	9.7e-140	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	T	3: 138,186,188		probably benign	Het
Adgra2	C	A	8: 27,113,436	H416Q	probably benign	Het
Adgra2	T	A	8: 27,113,437	C417S	probably damaging	Het
Aff3	C	A	1: 38,406,497	R307L	possibly damaging	Het
Arhgap17	T	C	7: 123,321,901	D121G	probably damaging	Het
Ascc3	G	T	10: 50,849,646	R2155I	probably null	Het
Ccdc115	C	T	1: 34,439,283	S19N	possibly damaging	Het
Ccser2	T	C	14: 36,940,081	N382S	probably benign	Het
Cenpo	A	T	12: 4,216,539	Y190N	probably damaging	Het
Cfh	T	A	1: 140,102,362	K924N	probably damaging	Het
Col4a1	A	G	8: 11,202,926		probably benign	Het
Coro1b	T	C	19: 4,150,771	V234A	probably benign	Het
Crot	T	C	5: 8,989,641	K69E	probably damaging	Het
Cyp2d11	A	T	15: 82,390,138	H347Q	probably benign	Het
Fam71b	G	A	11: 46,407,591	G574D	possibly damaging	Het
Fbn2	T	A	18: 58,124,321	I325F	probably benign	Het
Fbxw4	T	A	19: 45,582,748	R41S	probably benign	Het
Fn1	T	A	1: 71,613,907	I1308F	probably benign	Het
Frem1	C	A	4: 83,012,014	E232*	probably null	Het
Gabrg3	T	C	7: 56,773,311	Q213R	possibly damaging	Het
Gm11639	A	T	11: 104,721,458	K636*	probably null	Het
Gm428	A	G	4: 73,687,384	N344S	probably benign	Het
Gsdme	A	T	6: 50,227,398	V193E	probably damaging	Het
Hadha	C	A	5: 30,147,979		probably null	Het
Hdgfl2	C	A	17: 56,099,211	A533E	probably damaging	Het
Hivep2	T	C	10: 14,130,583	F975S	probably damaging	Het
Htatip2	T	A	7: 49,770,918	S171T	probably benign	Het
Ift57	A	T	16: 49,763,804	I307F	possibly damaging	Het
Il22	A	T	10: 118,205,810	R110W	probably benign	Het
Kcnk13	G	T	12: 100,061,689	R341L	probably damaging	Het
Kif2b	G	A	11: 91,575,915	T514M	probably damaging	Het
Kmt2c	A	C	5: 25,310,517	I2776S	probably damaging	Het
Ly9	T	C	1: 171,601,155	D189G	probably benign	Het
Mal2	T	C	15: 54,588,357	V58A	probably damaging	Het
Mettl21e	T	A	1: 44,206,366	N240I	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Nacc1	G	A	8: 84,673,215	R458C	probably damaging	Het
Ncapd3	T	C	9: 27,030,809	C14R	probably damaging	Het
Obscn	G	T	11: 58,995,453		probably benign	Het
Olfr273	A	G	4: 52,855,695	F273L	probably benign	Het
Olfr350	A	T	2: 36,850,222	M59L	possibly damaging	Het
Olfr930	T	A	9: 38,930,476	F102I	possibly damaging	Het
Parp12	T	C	6: 39,111,736	I189V	probably benign	Het
Pde4dip	C	A	3: 97,767,024	R192L	possibly damaging	Het
Pdlim4	C	A	11: 54,055,848	E204D	probably damaging	Het
Phf3	T	C	1: 30,813,982	Q1049R	probably damaging	Het
Prr14l	A	G	5: 32,827,759	L1464P	probably damaging	Het
Psg25	C	T	7: 18,521,398	V398I	probably benign	Het
Ptprq	T	A	10: 107,686,225	N622Y	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Tex36	A	G	7: 133,587,273	L190P	probably benign	Het
Tk1	A	G	11: 117,816,494	C156R	probably damaging	Het
Tmem144	T	A	3: 79,832,099	M126L	probably benign	Het
Tmem208	G	A	8: 105,328,230		probably null	Het
Trappc13	T	C	13: 104,150,152	Q199R	probably damaging	Het
Trim30b	T	A	7: 104,363,753	K156N	probably damaging	Het
Trps1	A	G	15: 50,831,605		probably null	Het
Washc4	T	A	10: 83,558,893	F329Y	possibly damaging	Het
Zbed5	T	G	5: 129,903,185	D658E	probably benign	Het
Zfyve28	T	G	5: 34,288,105	K11N	probably benign	Het
Zp1	C	T	19: 10,916,513	V443I	possibly damaging	Het

Other mutations in Cct6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Cct6b	APN	11	82741391	missense	probably damaging	1.00
IGL02606:Cct6b	APN	11	82736445	missense	probably damaging	1.00
IGL02707:Cct6b	APN	11	82754954	splice site	probably benign
IGL03081:Cct6b	APN	11	82764169	nonsense	probably null
R0032:Cct6b	UTSW	11	82753643	missense	possibly damaging	0.87
R0395:Cct6b	UTSW	11	82739680	missense	probably benign
R0556:Cct6b	UTSW	11	82719444	splice site	probably benign
R0631:Cct6b	UTSW	11	82737088	splice site	probably null
R1456:Cct6b	UTSW	11	82753620	splice site	probably benign
R3713:Cct6b	UTSW	11	82760357	missense	probably damaging	1.00
R4791:Cct6b	UTSW	11	82742004	splice site	probably null
R5154:Cct6b	UTSW	11	82739695	missense	probably damaging	1.00
R5256:Cct6b	UTSW	11	82764220	missense	probably damaging	0.98
R5338:Cct6b	UTSW	11	82762189	missense	possibly damaging	0.94
R5455:Cct6b	UTSW	11	82755117	missense	probably benign	0.04
R5560:Cct6b	UTSW	11	82741413	missense	probably damaging	1.00
R5616:Cct6b	UTSW	11	82741349	missense	probably damaging	1.00
R5644:Cct6b	UTSW	11	82722455	missense	probably benign	0.02
X0060:Cct6b	UTSW	11	82741310	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCCCTGCTGCAAACACAATG -3'
(R):5'- AAGAGCCTTGGACTGCGAAG -3'

Sequencing Primer
(F):5'- CTGCTGCAAACACAATGTGAAG -3'
(R):5'- CTTGGACTGCGAAGGTGCTC -3'

Posted On

2018-10-18