Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02227:Cct6b'

285596

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cct6b

Ensembl Gene

ENSMUSG00000020698

Gene Name

chaperonin containing Tcp1, subunit 6b (zeta)

Synonyms

CCTzeta-2, Cctz-2

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.425) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

82719250-82764321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82741391 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 257 (E257G)

Ref Sequence

ENSEMBL: ENSMUSP00000021040 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021040
AA Change: E257G

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

SMART Domains

Protein: ENSMUSP00000021040
Gene: ENSMUSG00000020698
AA Change: E257G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100722
AA Change: E218G

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000098288
Gene: ENSMUSG00000020698
AA Change: E218G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120047

Coding Region Coverage

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	A	G	10: 77,982,950	N152D	possibly damaging	Het
Acsl1	A	G	8: 46,534,365	E662G	probably benign	Het
Acss3	A	G	10: 107,045,335	S262P	probably benign	Het
Agap1	T	C	1: 89,663,775	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,473,404	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,926,152	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,562,190	H485N	probably benign	Het
Atrip	A	G	9: 109,061,664	S91P	possibly damaging	Het
Bcorl1	T	C	X: 48,369,360	V590A	probably benign	Het
Brf1	C	A	12: 112,961,774	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,148,922	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,256,452	V163A	probably damaging	Het
Cdc42bpa	A	G	1: 180,094,424	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,629,586	V434I	probably benign	Het
Cltc	C	T	11: 86,697,340	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,051,263	F473L	probably benign	Het
Dock3	T	C	9: 107,062,055	K165E	probably damaging	Het
Duox2	A	T	2: 122,285,153		probably benign	Het
Epha7	A	G	4: 28,821,587	S251G	possibly damaging	Het
Epn1	T	A	7: 5,095,036	V282E	probably benign	Het
Fat1	T	C	8: 45,023,659	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,256,367	I611T	possibly damaging	Het
Fgd6	G	T	10: 94,134,084	M1198I	probably damaging	Het
Frmpd4	T	A	X: 167,492,935	I379F	probably damaging	Het
Gm6614	A	T	6: 141,993,675	C197*	probably null	Het
Grk4	T	A	5: 34,694,782	D123E	probably benign	Het
Hc	T	G	2: 35,009,911		probably benign	Het
Hephl1	T	C	9: 15,069,793	Y781C	probably damaging	Het
Hfe	T	C	13: 23,706,943	E71G	probably benign	Het
Hk1	A	G	10: 62,281,140		probably benign	Het
Ifnk	G	A	4: 35,152,642		probably benign	Het
Kcnv1	C	A	15: 45,114,274	G123C	probably damaging	Het
Kdelc2	T	C	9: 53,388,479	L96S	probably damaging	Het
Klhl38	A	T	15: 58,323,237	I32N	possibly damaging	Het
Lpl	T	C	8: 68,895,800	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,953,857	S196C	probably damaging	Het
Mta1	T	C	12: 113,120,908	L91P	possibly damaging	Het
Nelfe	C	A	17: 34,854,354	D288E	probably benign	Het
Olfr491	T	A	7: 108,317,201	C102*	probably null	Het
Otof	T	C	5: 30,370,784	E1905G	probably damaging	Het
Pck2	T	C	14: 55,543,866	I148T	probably benign	Het
Plcl2	G	T	17: 50,606,397	V145F	probably damaging	Het
Plec	A	G	15: 76,172,274	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,752,089	E641G	probably damaging	Het
Ppp1r12a	C	T	10: 108,269,324	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,518,245	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,660,175		probably benign	Het
Psmb1	A	T	17: 15,490,284	M1K	probably null	Het
Pwwp2a	T	C	11: 43,705,621	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,672,753	R516W	probably damaging	Het
Rnf103	A	G	6: 71,510,188	D601G	probably benign	Het
Senp3	A	G	11: 69,674,530	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,315,683	T121P	probably damaging	Het
Srrt	G	A	5: 137,296,274	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,933,454		probably null	Het
Tas2r129	G	A	6: 132,951,394	W98*	probably null	Het
Thoc5	A	C	11: 4,926,217	M609L	probably benign	Het
Tnip1	G	A	11: 54,936,471	T155M	possibly damaging	Het
Ttn	A	G	2: 76,788,328	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,459,781	E61G	probably benign	Het
Usp32	T	C	11: 84,986,481	K151E	probably damaging	Het
Vmn2r121	T	C	X: 124,132,681	M260V	probably benign	Het
Vwa7	G	T	17: 35,020,084	R345L	probably damaging	Het
Zfp366	G	T	13: 99,234,188	R472L	possibly damaging	Het
Zfp811	A	T	17: 32,798,642	Y141*	probably null	Het
Zpbp	C	T	11: 11,415,248	E200K	probably benign	Het

Other mutations in Cct6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6862:Cct6b	UTSW	11	82719959	missense	probably damaging	1.00
R7960:Cct6b	UTSW	11	82741395	missense	possibly damaging	0.94
R8240:Cct6b	UTSW	11	82723824	missense	probably damaging	1.00
R8785:Cct6b	UTSW	11	82741331	missense	probably damaging	1.00
X0060:Cct6b	UTSW	11	82741310	missense	probably benign	0.00
Z1176:Cct6b	UTSW	11	82723939	missense	probably damaging	1.00
Z1176:Cct6b	UTSW	11	82764065	start gained	probably benign

Posted On

2015-04-16