Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Cct7'

23955

Institutional Source

Beutler Lab

Gene Symbol

Cct7

Ensembl Gene

ENSMUSG00000030007

Gene Name

chaperonin containing Tcp1, subunit 7 (eta)

Synonyms

Cctz, Ccth

MMRRC Submission

038449-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R0184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85451514-85468475 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85461554 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 105 (D105G)

Ref Sequence

ENSEMBL: ENSMUSP00000144893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032078] [ENSMUST00000204489] [ENSMUST00000204592]

AlphaFold

P80313

Predicted Effect

probably null
Transcript: ENSMUST00000032078
AA Change: D147G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000032078
Gene: ENSMUSG00000030007
AA Change: D147G

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	32	524	1.8e-163	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204489

SMART Domains

Protein: ENSMUSP00000144919
Gene: ENSMUSG00000030007

Domain	Start	End	E-Value	Type
PDB:4B2T\|H	1	53	2e-29	PDB
Blast:VWA	5	51	4e-7	BLAST
SCOP:d1a6da1	16	51	2e-8	SMART
low complexity region	68	80	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000204592
AA Change: D105G

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144893
Gene: ENSMUSG00000030007
AA Change: D105G

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	32	91	6e-21	PFAM
Pfam:Cpn60_TCP1	88	482	5e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205143

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

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. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,419,250 (GRCm38)	V131F	probably damaging	Het
Adam28	T	C	14: 68,637,373 (GRCm38)	D285G	probably benign	Het
Akr1c13	A	G	13: 4,194,056 (GRCm38)	E36G	probably damaging	Het
Antxr2	A	G	5: 97,980,030 (GRCm38)	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,617,673 (GRCm38)	D46E	unknown	Het
Armc9	T	C	1: 86,198,370 (GRCm38)	L61P	probably damaging	Het
Bicc1	C	A	10: 71,079,215 (GRCm38)	R73L	probably benign	Het
Calm2	T	C	17: 87,435,841 (GRCm38)	N43S	probably benign	Het
Cdk18	T	C	1: 132,118,538 (GRCm38)	N215D	probably benign	Het
Cep126	T	C	9: 8,103,395 (GRCm38)	T205A	probably benign	Het
Cfap57	A	T	4: 118,599,012 (GRCm38)	I495N	probably damaging	Het
Cyp2b9	T	A	7: 26,187,007 (GRCm38)	C152*	probably null	Het
Dab2ip	G	A	2: 35,718,791 (GRCm38)	R579H	probably damaging	Het
Dnah8	T	C	17: 30,683,683 (GRCm38)	V905A	probably benign	Het
Eif4h	C	A	5: 134,625,375 (GRCm38)	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,299,216 (GRCm38)	S372T	probably benign	Het
Fat2	T	A	11: 55,296,288 (GRCm38)	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,008,673 (GRCm38)	N443I	probably benign	Het
Git2	G	A	5: 114,739,037 (GRCm38)	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,845,258 (GRCm38)	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,967,614 (GRCm38)	Y152*	probably null	Het
Heatr5a	T	C	12: 51,909,969 (GRCm38)	D1115G	probably benign	Het
Hipk2	T	C	6: 38,718,931 (GRCm38)	N726S	possibly damaging	Het
Hrg	T	C	16: 22,953,771 (GRCm38)		probably null	Het
Iars	T	G	13: 49,722,212 (GRCm38)	S792A	probably benign	Het
Igf1r	A	G	7: 68,226,193 (GRCm38)	N1301S	possibly damaging	Het
Il22	A	T	10: 118,205,606 (GRCm38)	I75F	probably damaging	Het
Ilkap	T	C	1: 91,376,305 (GRCm38)		probably benign	Het
Ints13	A	T	6: 146,555,044 (GRCm38)	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637 (GRCm38)	S797A	probably benign	Het
Itgad	T	A	7: 128,189,231 (GRCm38)	D405E	probably benign	Het
Itgam	A	T	7: 128,086,058 (GRCm38)	I448F	probably damaging	Het
Klk1	C	T	7: 44,228,749 (GRCm38)	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,544,884 (GRCm38)	M1V	probably null	Het
Mdga1	A	G	17: 29,852,442 (GRCm38)	Y128H	probably damaging	Het
Mtor	G	T	4: 148,464,971 (GRCm38)	R604L	probably benign	Het
Olfr1170	A	T	2: 88,224,780 (GRCm38)	L84*	probably null	Het
Olfr656	T	C	7: 104,618,240 (GRCm38)	V187A	probably damaging	Het
Pcdhb7	T	A	18: 37,343,390 (GRCm38)	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,889,128 (GRCm38)	D139G	probably damaging	Het
Pkp3	A	C	7: 141,088,367 (GRCm38)	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,356,220 (GRCm38)	S524T	probably benign	Het
Pno1	T	C	11: 17,211,127 (GRCm38)	E69G	probably benign	Het
Pold1	C	T	7: 44,541,715 (GRCm38)	V231M	probably benign	Het
Poli	A	G	18: 70,522,731 (GRCm38)	S248P	probably damaging	Het
Ppox	C	T	1: 171,279,552 (GRCm38)	S138N	probably damaging	Het
Psg20	T	C	7: 18,685,976 (GRCm38)	E6G	probably null	Het
Rbmx	C	T	X: 57,391,566 (GRCm38)		probably null	Het
Rln1	T	A	19: 29,331,936 (GRCm38)	K148*	probably null	Het
Rnf213	C	T	11: 119,414,521 (GRCm38)	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,799,093 (GRCm38)	V904E	probably null	Het
Sf3b2	T	A	19: 5,283,672 (GRCm38)	I633F	probably damaging	Het
Sfswap	T	A	5: 129,507,189 (GRCm38)	I189N	probably damaging	Het
Smarca2	T	A	19: 26,692,249 (GRCm38)	Y973*	probably null	Het
Spink5	G	A	18: 44,003,198 (GRCm38)	D559N	probably benign	Het
Spty2d1	C	T	7: 46,997,574 (GRCm38)	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,675,562 (GRCm38)	I221T	probably damaging	Het
Tcf20	T	A	15: 82,852,300 (GRCm38)	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,430,964 (GRCm38)	K45R	probably benign	Het
Tirap	A	G	9: 35,189,194 (GRCm38)	S65P	probably benign	Het
Trim25	C	T	11: 88,999,640 (GRCm38)	P51L	probably damaging	Het
Trim61	T	C	8: 65,014,417 (GRCm38)	N64S	probably benign	Het
Twf1	T	A	15: 94,581,067 (GRCm38)		probably null	Het
Ubr4	A	C	4: 139,445,262 (GRCm38)	T1692P	probably damaging	Het
Usp3	A	G	9: 66,562,581 (GRCm38)	M86T	probably damaging	Het
Utrn	T	C	10: 12,667,618 (GRCm38)	D1762G	probably benign	Het
V1rd19	T	A	7: 24,003,207 (GRCm38)	F33I	probably benign	Het
Vmn2r52	T	C	7: 10,159,338 (GRCm38)	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,726,877 (GRCm38)	W472*	probably null	Het
Vrk2	C	A	11: 26,550,046 (GRCm38)	A56S	probably damaging	Het
Yeats2	C	T	16: 20,203,685 (GRCm38)	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,950,513 (GRCm38)	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808 (GRCm38)	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm38)	I253T	probably damaging	Het

Other mutations in Cct7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02223:Cct7	APN	6	85,462,041 (GRCm38)	missense	probably benign	0.00
IGL02292:Cct7	APN	6	85,461,109 (GRCm38)	missense	probably benign	0.03
IGL02724:Cct7	APN	6	85,459,149 (GRCm38)	missense	probably damaging	1.00
IGL02740:Cct7	APN	6	85,468,270 (GRCm38)	missense	probably benign
PIT4495001:Cct7	UTSW	6	85,459,961 (GRCm38)	missense	probably damaging	1.00
R1363:Cct7	UTSW	6	85,466,035 (GRCm38)	missense	probably damaging	1.00
R1378:Cct7	UTSW	6	85,467,563 (GRCm38)	splice site	probably null
R2076:Cct7	UTSW	6	85,468,140 (GRCm38)	missense	probably damaging	0.98
R2210:Cct7	UTSW	6	85,459,230 (GRCm38)	missense	probably damaging	1.00
R3905:Cct7	UTSW	6	85,466,708 (GRCm38)	missense	possibly damaging	0.90
R4298:Cct7	UTSW	6	85,468,173 (GRCm38)	missense	probably damaging	1.00
R4422:Cct7	UTSW	6	85,467,145 (GRCm38)	missense	probably damaging	0.98
R6519:Cct7	UTSW	6	85,462,150 (GRCm38)	missense	probably benign	0.19
R6903:Cct7	UTSW	6	85,466,693 (GRCm38)	missense	probably benign	0.27
R6925:Cct7	UTSW	6	85,459,182 (GRCm38)	missense	probably damaging	1.00
R7133:Cct7	UTSW	6	85,466,645 (GRCm38)	missense	probably benign	0.02
R7458:Cct7	UTSW	6	85,459,996 (GRCm38)	missense	probably benign	0.14
R8133:Cct7	UTSW	6	85,461,063 (GRCm38)	missense	probably damaging	1.00
R9516:Cct7	UTSW	6	85,467,643 (GRCm38)	missense	possibly damaging	0.86
Z1177:Cct7	UTSW	6	85,466,669 (GRCm38)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGAGAGTTTCCCAAGTGGCAGACC -3'
(R):5'- CATCAGTGACCGACAGCAGATACAG -3'

Sequencing Primer
(F):5'- TCCCAAGTGGCAGACCTTTAC -3'
(R):5'- CACGGTGGCTCTTAATGACAG -3'

Posted On

2013-04-16