Mutagenetix > Incidental Mutation

Incidental Mutation 'R7252:Cct8'

564035

Institutional Source

Beutler Lab

Gene Symbol

Cct8

Ensembl Gene

ENSMUSG00000025613

Gene Name

chaperonin containing TCP1 subunit 8

Synonyms

Tcpq, Cctq

MMRRC Submission

045385-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R7252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87280213-87292757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87281807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 485 (E485G)

Ref Sequence

ENSEMBL: ENSMUSP00000026704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026704] [ENSMUST00000026710] [ENSMUST00000119504] [ENSMUST00000144759] [ENSMUST00000175977] [ENSMUST00000176041] [ENSMUST00000177376]

AlphaFold

P42932

Predicted Effect

probably benign
Transcript: ENSMUST00000026704
AA Change: E485G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000026704
Gene: ENSMUSG00000025613
AA Change: E485G

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	39	529	6.7e-156	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026710

SMART Domains

Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	48	127	2.5e-23	PFAM
coiled coil region	149	182	N/A	INTRINSIC
Pfam:UCH	194	821	2e-54	PFAM
Pfam:UCH_1	195	800	3.8e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119504

SMART Domains

Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	48	127	6.9e-24	PFAM
coiled coil region	149	181	N/A	INTRINSIC
Pfam:UCH	193	732	1.2e-36	PFAM
Pfam:UCH_1	194	737	2.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144759

SMART Domains

Protein: ENSMUSP00000116323
Gene: ENSMUSG00000025616

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	48	127	2e-24	PFAM
coiled coil region	149	181	N/A	INTRINSIC
Pfam:UCH	193	330	2.4e-23	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000134920
Gene: ENSMUSG00000025613
AA Change: E236G

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	1	238	1.2e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175977
AA Change: E426G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000135651
Gene: ENSMUSG00000025613
AA Change: E426G

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	39	132	4.5e-32	PFAM
Pfam:Cpn60_TCP1	120	470	1.9e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176041

SMART Domains

Protein: ENSMUSP00000135377
Gene: ENSMUSG00000025613

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	1	158	3.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177376

SMART Domains

Protein: ENSMUSP00000135498
Gene: ENSMUSG00000025613

Domain	Start	End	E-Value	Type
PDB:4B2T\|Q	1	51	1e-29	PDB
SCOP:d1oela1	26	51	8e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the theta subunit of the CCT chaperonin, which is abundant in the eukaryotic cytosol and may be involved in the transport and assembly of newly synthesized proteins. Alternative splicing results in multiple transcript variants of this gene. A pseudogene related to this gene is located on chromosome 1. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Abcc2	T	A	19: 43,816,388 (GRCm39)	I1226N	probably damaging	Het
Adarb2	A	G	13: 8,620,216 (GRCm39)	E234G	probably benign	Het
Ankrd52	T	C	10: 128,217,865 (GRCm39)	S282P	probably damaging	Het
Arhgef12	A	T	9: 42,927,205 (GRCm39)	S306R	probably benign	Het
Baiap2	G	T	11: 119,893,865 (GRCm39)	A514S	probably benign	Het
BC030500	T	A	8: 59,364,838 (GRCm39)		probably null	Het
C1qtnf12	T	A	4: 156,047,072 (GRCm39)	W13R	unknown	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Cep85	T	C	4: 133,875,342 (GRCm39)	D542G	probably benign	Het
Clhc1	T	A	11: 29,513,937 (GRCm39)	S340R	probably benign	Het
Cnot4	A	T	6: 35,046,362 (GRCm39)	D168E	probably damaging	Het
Cntn5	G	A	9: 9,831,640 (GRCm39)	T375I	probably benign	Het
Ctc1	T	A	11: 68,917,000 (GRCm39)	I298N	probably damaging	Het
Dchs2	T	A	3: 83,232,610 (GRCm39)	N2198K	probably benign	Het
Ddx6	G	A	9: 44,535,050 (GRCm39)		probably null	Het
Defb11	A	G	8: 22,395,473 (GRCm39)	I68T	probably benign	Het
Dip2a	C	T	10: 76,109,036 (GRCm39)	V1212I	not run	Het
Dop1a	T	A	9: 86,382,874 (GRCm39)	I269N	probably damaging	Het
Efna3	C	T	3: 89,223,971 (GRCm39)	G73S	possibly damaging	Het
Fam98b	C	G	2: 117,094,373 (GRCm39)	R228G	probably damaging	Het
Fancd2	A	T	6: 113,533,246 (GRCm39)	N521I	probably damaging	Het
Farsa	A	G	8: 85,587,957 (GRCm39)	D134G	probably damaging	Het
Fat2	A	T	11: 55,202,088 (GRCm39)	F329I	probably damaging	Het
Gm14399	A	T	2: 174,974,991 (GRCm39)	I43K	probably damaging	Het
Gpr15	A	G	16: 58,538,760 (GRCm39)	S110P	probably damaging	Het
Gpr157	T	C	4: 150,183,331 (GRCm39)	V167A	probably benign	Het
Hacd4	A	G	4: 88,345,000 (GRCm39)	I134T	possibly damaging	Het
Hpgd	T	A	8: 56,751,461 (GRCm39)	N96K	probably damaging	Het
Insm2	A	T	12: 55,647,305 (GRCm39)	T350S	probably benign	Het
Iqch	C	T	9: 63,419,518 (GRCm39)		probably null	Het
Kmt2d	A	G	15: 98,742,147 (GRCm39)	S4338P	unknown	Het
Krtap9-3	A	G	11: 99,488,796 (GRCm39)	S29P	probably benign	Het
Kyat3	T	A	3: 142,426,219 (GRCm39)	S87T	probably benign	Het
Minar2	A	G	18: 59,199,980 (GRCm39)		probably null	Het
Mrpl46	T	C	7: 78,430,336 (GRCm39)	T145A	probably benign	Het
Neb	A	G	2: 52,214,973 (GRCm39)		probably null	Het
Or2aj5	A	T	16: 19,425,249 (GRCm39)	H55Q	probably damaging	Het
Or4c124	T	A	2: 89,156,629 (GRCm39)		probably benign	Het
Or6x1	C	T	9: 40,098,657 (GRCm39)	T82I	probably benign	Het
Or7g17	A	G	9: 18,768,548 (GRCm39)	Y200C	probably damaging	Het
Or9a7	A	G	6: 40,521,703 (GRCm39)	I70T	probably benign	Het
Otogl	T	C	10: 107,657,804 (GRCm39)	D1042G	probably benign	Het
Paxip1	C	T	5: 27,965,084 (GRCm39)	V659I	probably damaging	Het
Pfkl	A	G	10: 77,829,263 (GRCm39)	W382R	probably damaging	Het
Pfn1	A	G	11: 70,545,297 (GRCm39)	W4R	probably damaging	Het
Pik3c2b	G	A	1: 133,022,472 (GRCm39)	R1138H	probably benign	Het
Pkd1l3	A	G	8: 110,387,330 (GRCm39)	D1758G	probably benign	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pramel29	T	C	4: 143,939,510 (GRCm39)	D9G	possibly damaging	Het
Prdm12	A	G	2: 31,532,386 (GRCm39)	N132S	possibly damaging	Het
Prokr2	T	A	2: 132,223,360 (GRCm39)	M61L	probably benign	Het
Ralgapa2	T	C	2: 146,184,671 (GRCm39)		probably null	Het
Ralgps1	A	T	2: 33,058,200 (GRCm39)	D301E	probably benign	Het
Rcbtb2	T	C	14: 73,404,220 (GRCm39)	Y231H	probably damaging	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Relb	C	A	7: 19,346,538 (GRCm39)	E345*	probably null	Het
Rhbdl3	A	C	11: 80,228,411 (GRCm39)	M294L	possibly damaging	Het
Rpl24	G	A	16: 55,790,479 (GRCm39)	A112T	possibly damaging	Het
Rsbn1l	C	T	5: 21,113,196 (GRCm39)	R442Q	probably damaging	Het
Rxfp3	A	T	15: 11,036,025 (GRCm39)	I449N	probably benign	Het
Sema4c	A	C	1: 36,589,096 (GRCm39)	C677G	probably damaging	Het
Sf3b3	A	C	8: 111,566,562 (GRCm39)	I256S	probably damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Slc39a6	G	T	18: 24,734,442 (GRCm39)	N82K	possibly damaging	Het
Slc3a2	T	C	19: 8,700,521 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,986,634 (GRCm39)	Q292R	probably benign	Het
Tgm6	A	G	2: 129,986,884 (GRCm39)	R451G	probably damaging	Het
Tspo	G	T	15: 83,456,466 (GRCm39)	G83V	probably damaging	Het
Ubxn10	T	C	4: 138,448,187 (GRCm39)	Q163R	probably benign	Het
Ushbp1	A	G	8: 71,847,246 (GRCm39)	S129P	probably benign	Het
Vmn2r23	T	A	6: 123,718,540 (GRCm39)	V631D	probably damaging	Het
Vmn2r24	T	C	6: 123,764,191 (GRCm39)	I356T	possibly damaging	Het
Vmn2r84	C	T	10: 130,222,279 (GRCm39)	C647Y	probably damaging	Het
Vps13a	T	C	19: 16,638,428 (GRCm39)	E2356G	probably benign	Het
Wdr64	A	G	1: 175,603,240 (GRCm39)	T614A	probably benign	Het
Zdhhc16	G	T	19: 41,929,990 (GRCm39)	W271L	probably damaging	Het
Zer1	A	C	2: 29,991,904 (GRCm39)	S652A	probably damaging	Het
Zfp287	A	G	11: 62,615,655 (GRCm39)	V224A	probably damaging	Het
Zfp438	A	T	18: 5,214,874 (GRCm39)	L28*	probably null	Het
Zfp830	G	A	11: 82,655,534 (GRCm39)	A113T	probably benign	Het
Zfp865	G	T	7: 5,037,416 (GRCm39)		probably benign	Het

Other mutations in Cct8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02054:Cct8	APN	16	87,287,364 (GRCm39)	splice site	probably benign
IGL02975:Cct8	APN	16	87,283,118 (GRCm39)	splice site	probably benign
IGL03015:Cct8	APN	16	87,283,553 (GRCm39)	splice site	probably benign
IGL03191:Cct8	APN	16	87,283,198 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Cct8	UTSW	16	87,284,545 (GRCm39)	missense	probably damaging	1.00
R0479:Cct8	UTSW	16	87,284,594 (GRCm39)	missense	probably damaging	1.00
R0972:Cct8	UTSW	16	87,283,508 (GRCm39)	missense	possibly damaging	0.94
R1368:Cct8	UTSW	16	87,288,200 (GRCm39)	missense	probably damaging	0.99
R1544:Cct8	UTSW	16	87,288,342 (GRCm39)	splice site	probably benign
R1548:Cct8	UTSW	16	87,282,472 (GRCm39)	missense	probably damaging	0.99
R1823:Cct8	UTSW	16	87,287,442 (GRCm39)	nonsense	probably null
R2303:Cct8	UTSW	16	87,287,220 (GRCm39)	splice site	probably null
R3076:Cct8	UTSW	16	87,285,765 (GRCm39)	missense	possibly damaging	0.84
R3078:Cct8	UTSW	16	87,285,765 (GRCm39)	missense	possibly damaging	0.84
R4094:Cct8	UTSW	16	87,284,516 (GRCm39)	missense	possibly damaging	0.94
R4713:Cct8	UTSW	16	87,284,576 (GRCm39)	nonsense	probably null
R5031:Cct8	UTSW	16	87,284,426 (GRCm39)	missense	probably damaging	0.99
R5687:Cct8	UTSW	16	87,285,709 (GRCm39)	missense	probably benign	0.00
R6325:Cct8	UTSW	16	87,292,615 (GRCm39)	critical splice donor site	probably null
R6391:Cct8	UTSW	16	87,284,566 (GRCm39)	missense	probably benign	0.00
R6395:Cct8	UTSW	16	87,283,364 (GRCm39)	nonsense	probably null
R7570:Cct8	UTSW	16	87,288,210 (GRCm39)	missense	probably benign	0.18
R8397:Cct8	UTSW	16	87,290,651 (GRCm39)	missense	possibly damaging	0.95
R8766:Cct8	UTSW	16	87,285,756 (GRCm39)	missense	probably damaging	0.97
R9309:Cct8	UTSW	16	87,282,592 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGAGTGCTATGTTATGACTGCACTG -3'
(R):5'- TTTCACGTTGAGTTGACCAAC -3'

Sequencing Primer
(F):5'- TCAGGGTAAGCACTCCTATCTGAG -3'
(R):5'- GCCCAGATTAAAGGTGTGTTCCAC -3'

Posted On

2019-06-26