Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02707:Cct6b'

304424

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cct6b

Ensembl Gene

ENSMUSG00000020698

Gene Name

chaperonin containing TCP1 subunit 6B

Synonyms

CCTzeta-2, Cctz-2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.358) question?

Stock #

IGL02707

Quality Score

Status

Chromosome

Chromosomal Location

82610076-82655147 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 82645780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098288 (fasta)

Gene Model

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

AlphaFold

Q61390

Predicted Effect

probably benign
Transcript: ENSMUST00000021040

SMART Domains

Protein: ENSMUSP00000021040
Gene: ENSMUSG00000020698

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100722

SMART Domains

Protein: ENSMUSP00000098288
Gene: ENSMUSG00000020698

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,928 (GRCm39)	T149A	probably benign	Het
4932414N04Rik	A	C	2: 68,561,474 (GRCm39)	Q267P	possibly damaging	Het
Actr5	T	C	2: 158,478,617 (GRCm39)	V489A	probably benign	Het
Adam26b	T	C	8: 43,972,895 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,290,567 (GRCm39)	N509S	probably benign	Het
Arhgap22	C	T	14: 33,085,229 (GRCm39)		probably benign	Het
Arhgap9	C	A	10: 127,165,476 (GRCm39)	H628Q	probably damaging	Het
Asap1	A	T	15: 64,001,123 (GRCm39)	I486N	probably damaging	Het
Asb15	A	T	6: 24,558,787 (GRCm39)		probably benign	Het
Avil	A	G	10: 126,842,431 (GRCm39)	D70G	probably damaging	Het
Cep63	A	T	9: 102,464,180 (GRCm39)	I717K	probably damaging	Het
Chd4	G	T	6: 125,085,730 (GRCm39)	A875S	probably damaging	Het
Col4a4	A	T	1: 82,471,237 (GRCm39)	M706K	unknown	Het
Cr1l	T	C	1: 194,806,019 (GRCm39)	T155A	probably benign	Het
Ctnna3	A	G	10: 63,339,844 (GRCm39)	N10S	probably benign	Het
Cubn	A	G	2: 13,450,843 (GRCm39)	V854A	probably damaging	Het
Dgkh	T	C	14: 78,823,091 (GRCm39)	T845A	possibly damaging	Het
F10	G	A	8: 13,098,252 (GRCm39)	A152T	probably damaging	Het
Gabrg3	C	A	7: 56,632,439 (GRCm39)	E170*	probably null	Het
Heatr5a	A	G	12: 51,968,149 (GRCm39)	V829A	probably benign	Het
Htt	T	A	5: 34,987,225 (GRCm39)		probably null	Het
Icam4	T	C	9: 20,941,770 (GRCm39)	Y257H	possibly damaging	Het
Jph1	A	G	1: 17,074,675 (GRCm39)	S448P	probably benign	Het
Kansl1l	G	A	1: 66,812,604 (GRCm39)	L125F	probably damaging	Het
Kifc1	A	T	17: 34,100,467 (GRCm39)	C46*	probably null	Het
Lce3b	A	G	3: 92,841,193 (GRCm39)	D96G	unknown	Het
Mab21l1	A	T	3: 55,690,505 (GRCm39)	I31F	possibly damaging	Het
Mctp2	A	G	7: 71,909,089 (GRCm39)	Y75H	possibly damaging	Het
Mesp2	A	G	7: 79,461,274 (GRCm39)	I200V	probably benign	Het
Msr1	T	C	8: 40,085,870 (GRCm39)		probably benign	Het
Mtfr2	C	T	10: 20,224,084 (GRCm39)	T6I	probably benign	Het
Myo5b	T	C	18: 74,828,438 (GRCm39)		probably benign	Het
Myoc	T	A	1: 162,467,029 (GRCm39)	I66N	probably benign	Het
Or10d1b	T	C	9: 39,613,937 (GRCm39)	I43V	probably damaging	Het
Or4a70	A	T	2: 89,324,171 (GRCm39)	Y162N	probably damaging	Het
Or51k1	A	C	7: 103,661,609 (GRCm39)	L100W	probably damaging	Het
Or52n20	T	C	7: 104,320,136 (GRCm39)	C76R	probably damaging	Het
Or52n2b	A	G	7: 104,565,859 (GRCm39)	C215R	probably damaging	Het
Or7a39	T	C	10: 78,715,759 (GRCm39)	L251S	probably damaging	Het
Per2	T	C	1: 91,378,450 (GRCm39)	D33G	possibly damaging	Het
Pknox1	A	G	17: 31,821,793 (GRCm39)	I295V	possibly damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rhot2	A	G	17: 26,063,270 (GRCm39)	S19P	probably damaging	Het
Rps6kb1	C	A	11: 86,426,236 (GRCm39)		probably null	Het
Serpinb1b	C	T	13: 33,275,648 (GRCm39)	T194I	probably benign	Het
Smarcad1	T	A	6: 65,029,790 (GRCm39)		probably benign	Het
Stxbp4	A	G	11: 90,428,759 (GRCm39)	S449P	probably benign	Het
Thrb	A	C	14: 18,026,721 (GRCm38)	I275L	probably benign	Het
Tjp1	T	A	7: 64,979,431 (GRCm39)	K365*	probably null	Het
Tjp1	T	A	7: 64,979,430 (GRCm39)	K365I	possibly damaging	Het
Tm4sf4	C	A	3: 57,333,939 (GRCm39)	C75*	probably null	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Txndc16	T	C	14: 45,399,730 (GRCm39)	T408A	probably benign	Het
Ube2j1	T	C	4: 33,038,206 (GRCm39)	L38P	possibly damaging	Het
Urb2	T	C	8: 124,757,425 (GRCm39)	I1044T	probably benign	Het

Other mutations in Cct6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Cct6b	APN	11	82,632,217 (GRCm39)	missense	probably damaging	1.00
IGL02606:Cct6b	APN	11	82,627,271 (GRCm39)	missense	probably damaging	1.00
IGL03081:Cct6b	APN	11	82,654,995 (GRCm39)	nonsense	probably null
R0032:Cct6b	UTSW	11	82,644,469 (GRCm39)	missense	possibly damaging	0.87
R0395:Cct6b	UTSW	11	82,630,506 (GRCm39)	missense	probably benign
R0556:Cct6b	UTSW	11	82,610,270 (GRCm39)	splice site	probably benign
R0631:Cct6b	UTSW	11	82,627,914 (GRCm39)	splice site	probably null
R1456:Cct6b	UTSW	11	82,644,446 (GRCm39)	splice site	probably benign
R3713:Cct6b	UTSW	11	82,651,183 (GRCm39)	missense	probably damaging	1.00
R4791:Cct6b	UTSW	11	82,632,830 (GRCm39)	splice site	probably null
R5154:Cct6b	UTSW	11	82,630,521 (GRCm39)	missense	probably damaging	1.00
R5256:Cct6b	UTSW	11	82,655,046 (GRCm39)	missense	probably damaging	0.98
R5338:Cct6b	UTSW	11	82,653,015 (GRCm39)	missense	possibly damaging	0.94
R5455:Cct6b	UTSW	11	82,645,943 (GRCm39)	missense	probably benign	0.04
R5560:Cct6b	UTSW	11	82,632,239 (GRCm39)	missense	probably damaging	1.00
R5616:Cct6b	UTSW	11	82,632,175 (GRCm39)	missense	probably damaging	1.00
R5644:Cct6b	UTSW	11	82,613,281 (GRCm39)	missense	probably benign	0.02
R6862:Cct6b	UTSW	11	82,610,785 (GRCm39)	missense	probably damaging	1.00
R7960:Cct6b	UTSW	11	82,632,221 (GRCm39)	missense	possibly damaging	0.94
R8240:Cct6b	UTSW	11	82,614,650 (GRCm39)	missense	probably damaging	1.00
R8785:Cct6b	UTSW	11	82,632,157 (GRCm39)	missense	probably damaging	1.00
R8943:Cct6b	UTSW	11	82,654,959 (GRCm39)	utr 5 prime	probably benign
R9527:Cct6b	UTSW	11	82,630,447 (GRCm39)	critical splice donor site	probably null
R9674:Cct6b	UTSW	11	82,645,838 (GRCm39)	missense	probably damaging	1.00
X0060:Cct6b	UTSW	11	82,632,136 (GRCm39)	missense	probably benign	0.00
Z1176:Cct6b	UTSW	11	82,654,891 (GRCm39)	start gained	probably benign
Z1176:Cct6b	UTSW	11	82,614,765 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16