Mutagenetix > Incidental Mutation

Incidental Mutation 'R0556:Cct6b'

45574

Institutional Source

Beutler Lab

Gene Symbol

Cct6b

Ensembl Gene

ENSMUSG00000020698

Gene Name

chaperonin containing TCP1 subunit 6B

Synonyms

CCTzeta-2, Cctz-2

MMRRC Submission

038748-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.384) question?

Stock #

R0556 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

82610076-82655147 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 82610270 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

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 15,164,213 (GRCm39)	Y113*	probably null	Het
4930402F06Rik	T	C	2: 35,280,482 (GRCm39)		probably benign	Het
Acad11	A	G	9: 103,992,501 (GRCm39)	E481G	probably damaging	Het
Aldh1a1	A	T	19: 20,611,842 (GRCm39)	N389Y	probably damaging	Het
Bmpr2	C	T	1: 59,854,487 (GRCm39)	T112M	probably damaging	Het
Bms1	A	G	6: 118,390,140 (GRCm39)	Y227H	probably damaging	Het
Cab39	A	G	1: 85,763,212 (GRCm39)		probably benign	Het
Ccn3	A	T	15: 54,612,563 (GRCm39)	T191S	probably damaging	Het
Ccno	T	C	13: 113,124,820 (GRCm39)		probably null	Het
Cd101	A	C	3: 100,927,970 (GRCm39)	I37S	probably damaging	Het
Ces1a	T	C	8: 93,771,740 (GRCm39)	H19R	probably benign	Het
Clec16a	A	G	16: 10,456,649 (GRCm39)		probably null	Het
Cntnap1	T	C	11: 101,074,822 (GRCm39)	F831S	probably benign	Het
Col24a1	A	G	3: 145,020,489 (GRCm39)	T287A	possibly damaging	Het
Colgalt2	C	T	1: 152,347,564 (GRCm39)		probably benign	Het
Cpd	A	G	11: 76,693,171 (GRCm39)		probably benign	Het
Cyp3a16	C	A	5: 145,392,790 (GRCm39)	M145I	probably benign	Het
Ddx54	T	A	5: 120,757,719 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,833,426 (GRCm39)	L1925Q	probably damaging	Het
Eif4g1	A	T	16: 20,494,544 (GRCm39)	Y127F	probably damaging	Het
Erap1	T	A	13: 74,808,444 (GRCm39)	V52E	probably damaging	Het
Fbxo6	G	T	4: 148,230,632 (GRCm39)	T210N	probably damaging	Het
Fcgbpl1	C	T	7: 27,858,803 (GRCm39)	H2308Y	probably benign	Het
Garre1	T	C	7: 33,939,222 (GRCm39)	T222A	probably damaging	Het
Gnat3	T	G	5: 18,224,596 (GRCm39)	V332G	probably damaging	Het
Ift22	T	A	5: 136,940,145 (GRCm39)		probably null	Het
Igkv4-71	A	G	6: 69,220,171 (GRCm39)	C109R	probably damaging	Het
Igsf10	A	G	3: 59,236,296 (GRCm39)	L1295P	probably benign	Het
Itga4	T	C	2: 79,155,983 (GRCm39)	I983T	probably benign	Het
Lhcgr	A	T	17: 89,079,491 (GRCm39)	V65D	probably damaging	Het
Mau2	G	C	8: 70,495,082 (GRCm39)	T85R	probably damaging	Het
Morc2a	T	C	11: 3,631,809 (GRCm39)		probably null	Het
Morc2b	A	T	17: 33,356,812 (GRCm39)	M320K	probably benign	Het
Ms4a18	C	A	19: 10,991,065 (GRCm39)	V10F	probably damaging	Het
Mstn	A	T	1: 53,103,284 (GRCm39)	I207F	probably benign	Het
Mtor	A	G	4: 148,553,837 (GRCm39)	E812G	possibly damaging	Het
Myo1h	A	G	5: 114,457,852 (GRCm39)	Y121C	probably damaging	Het
Or11g27	T	C	14: 50,771,381 (GRCm39)	S171P	probably benign	Het
Or4a66	A	C	2: 88,531,115 (GRCm39)	V186G	possibly damaging	Het
Or8b53	A	T	9: 38,667,041 (GRCm39)	D19V	possibly damaging	Het
Plcd3	G	A	11: 102,968,632 (GRCm39)	T353M	probably damaging	Het
Pnpla7	T	A	2: 24,942,313 (GRCm39)		probably null	Het
Ppp1r12b	T	A	1: 134,705,060 (GRCm39)	Y876F	probably damaging	Het
Prelid2	T	A	18: 42,084,245 (GRCm39)		probably benign	Het
Prickle1	A	G	15: 93,398,662 (GRCm39)	L722P	probably benign	Het
Prr12	A	G	7: 44,680,093 (GRCm39)	L1887P	unknown	Het
Ptk2b	A	G	14: 66,409,593 (GRCm39)	L481P	probably damaging	Het
Rgl3	T	A	9: 21,887,140 (GRCm39)	K531*	probably null	Het
Sacs	A	G	14: 61,421,407 (GRCm39)	I115V	probably damaging	Het
Septin3	G	T	15: 82,167,966 (GRCm39)		probably benign	Het
Simc1	T	C	13: 54,673,160 (GRCm39)	S503P	probably benign	Het
Stard9	T	C	2: 120,529,404 (GRCm39)	V1887A	probably benign	Het
Synj2	T	A	17: 6,088,230 (GRCm39)	L1427*	probably null	Het
Taar2	A	G	10: 23,816,793 (GRCm39)	D111G	probably damaging	Het
Tlr5	A	G	1: 182,801,716 (GRCm39)	N340S	probably damaging	Het
Tmco2	A	G	4: 120,966,314 (GRCm39)	L14P	probably damaging	Het
Tnik	A	T	3: 28,679,367 (GRCm39)	D746V	possibly damaging	Het
Trip11	C	A	12: 101,850,777 (GRCm39)	E811*	probably null	Het
Ttll9	T	C	2: 152,815,526 (GRCm39)		probably null	Het
Uchl1	A	G	5: 66,839,824 (GRCm39)	E122G	probably benign	Het
Vwa3b	C	A	1: 37,203,566 (GRCm39)		probably benign	Het
Zan	T	C	5: 137,452,482 (GRCm39)	N1533S	unknown	Het
Zfp687	G	T	3: 94,917,719 (GRCm39)	D684E	probably damaging	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
IGL02707:Cct6b	APN	11	82,645,780 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTGACGCTGCTGGGTATGAC -3'
(R):5'- ACCCTCACTGTTTGGGTTGGGAAG -3'

Sequencing Primer
(F):5'- CTGCTGGGTATGACACGTATAAAATC -3'
(R):5'- GGGTACAAATTAGACTTCTGCCG -3'

Posted On

2013-06-11