Mutagenetix > Incidental Mutation

Incidental Mutation 'R5031:Cct8'

391715

Institutional Source

Beutler Lab

Gene Symbol

Cct8

Ensembl Gene

ENSMUSG00000025613

Gene Name

chaperonin containing Tcp1, subunit 8 (theta)

Synonyms

Cctq, Tcpq

MMRRC Submission

042622-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R5031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87483326-87495873 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87487538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 254 (V254M)

Ref Sequence

ENSEMBL: ENSMUSP00000135651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026704] [ENSMUST00000026710] [ENSMUST00000119504] [ENSMUST00000144759] [ENSMUST00000175977] [ENSMUST00000176041] [ENSMUST00000176750] [ENSMUST00000177376]

AlphaFold

P42932

Predicted Effect

probably damaging
Transcript: ENSMUST00000026704
AA Change: V313M

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026704
Gene: ENSMUSG00000025613
AA Change: V313M

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

noncoding transcript
Transcript: ENSMUST00000149656

Predicted Effect

unknown
Transcript: ENSMUST00000175750
AA Change: V71M

SMART Domains

Protein: ENSMUSP00000134920
Gene: ENSMUSG00000025613
AA Change: V71M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000175977
AA Change: V254M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135651
Gene: ENSMUSG00000025613
AA Change: V254M

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

noncoding transcript
Transcript: ENSMUST00000176241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177275

Predicted Effect

probably benign
Transcript: ENSMUST00000176750

SMART Domains

Protein: ENSMUSP00000135830
Gene: ENSMUSG00000025613

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	1	132	1.7e-35	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

Meta Mutation Damage Score

0.2159

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 89.9%

Validation Efficiency

100% (52/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,664,514	N136S	probably damaging	Het
Abca13	A	T	11: 9,297,678	N2475I	probably damaging	Het
Acnat2	T	C	4: 49,380,631	K231R	probably damaging	Het
Ank1	C	T	8: 23,099,680	P599L	probably damaging	Het
Arhgef19	A	G	4: 141,250,810	E580G	probably damaging	Het
Atr	A	G	9: 95,865,702	K346E	probably damaging	Het
AU021092	T	C	16: 5,212,604	K309E	probably damaging	Het
Baz2b	T	C	2: 59,912,807	R1607G	probably benign	Het
Cdca2	T	A	14: 67,713,153	I110F	probably damaging	Het
Csmd3	A	T	15: 47,659,192	C2694S	probably damaging	Het
Dmkn	A	G	7: 30,764,236	I105V	probably benign	Het
Dock1	A	G	7: 135,152,246	D1584G	probably benign	Het
Epg5	G	A	18: 78,028,948	V2392I	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gsap	G	A	5: 21,242,826	S294N	possibly damaging	Het
Hectd2	A	G	19: 36,599,604	N142D	probably damaging	Het
Hmcn1	A	G	1: 150,588,257	C5091R	probably damaging	Het
Ifitm5	G	A	7: 140,950,104	R36*	probably null	Het
Ints2	G	A	11: 86,256,200	P40L	probably damaging	Het
Irs1	A	T	1: 82,286,967	L1176*	probably null	Het
Klhl29	C	T	12: 5,091,334	R550Q	probably benign	Het
Kyat1	A	G	2: 30,188,090	M134T	probably damaging	Het
Lrrk2	A	T	15: 91,700,619	N384Y	possibly damaging	Het
Magel2	T	C	7: 62,380,104	S919P	unknown	Het
Mettl16	A	T	11: 74,802,999	I279F	probably benign	Het
Mrgpra1	A	T	7: 47,335,237	Y231*	probably null	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mut	T	C	17: 40,938,827	F231S	possibly damaging	Het
Mvp	A	C	7: 126,993,616	Y374*	probably null	Het
Nabp2	G	A	10: 128,409,628		probably benign	Het
Nos1	C	T	5: 117,879,313	P247L	probably benign	Het
Olfr1015	T	A	2: 85,785,718	L69*	probably null	Het
Olfr1115	C	A	2: 87,252,082	F48L	probably benign	Het
Pik3cb	C	T	9: 99,071,408	D441N	probably damaging	Het
Qrich1	C	T	9: 108,541,736	P464S	possibly damaging	Het
Rab17	A	T	1: 90,960,138		probably null	Het
Rspo3	A	T	10: 29,506,447	L77H	probably damaging	Het
Spn	G	T	7: 127,137,230	T35K	probably benign	Het
Sult1d1	T	A	5: 87,559,844	Y139F	possibly damaging	Het
Tbc1d32	C	A	10: 56,123,531	Q848H	probably damaging	Het
Tcaf3	A	G	6: 42,596,933	V115A	probably benign	Het
Tram1l1	T	A	3: 124,321,644	L151*	probably null	Het
Trappc12	T	A	12: 28,692,513	I682L	possibly damaging	Het
Trav6d-4	A	C	14: 52,753,599	T31P	probably damaging	Het
Trpm8	A	G	1: 88,348,188	T503A	probably benign	Het
Virma	T	A	4: 11,542,116	Y1567*	probably null	Het
Vmn1r228	T	A	17: 20,776,681	K192*	probably null	Het
Zfp521	T	A	18: 13,844,273	T1028S	possibly damaging	Het
Zfp583	T	A	7: 6,317,398	Q205L	probably benign	Het

Other mutations in Cct8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02054:Cct8	APN	16	87490476	splice site	probably benign
IGL02975:Cct8	APN	16	87486230	splice site	probably benign
IGL03015:Cct8	APN	16	87486665	splice site	probably benign
IGL03191:Cct8	APN	16	87486310	missense	probably damaging	1.00
PIT4151001:Cct8	UTSW	16	87487657	missense	probably damaging	1.00
R0479:Cct8	UTSW	16	87487706	missense	probably damaging	1.00
R0972:Cct8	UTSW	16	87486620	missense	possibly damaging	0.94
R1368:Cct8	UTSW	16	87491312	missense	probably damaging	0.99
R1544:Cct8	UTSW	16	87491454	splice site	probably benign
R1548:Cct8	UTSW	16	87485584	missense	probably damaging	0.99
R1823:Cct8	UTSW	16	87490554	nonsense	probably null
R2303:Cct8	UTSW	16	87490332	splice site	probably null
R3076:Cct8	UTSW	16	87488877	missense	possibly damaging	0.84
R3078:Cct8	UTSW	16	87488877	missense	possibly damaging	0.84
R4094:Cct8	UTSW	16	87487628	missense	possibly damaging	0.94
R4713:Cct8	UTSW	16	87487688	nonsense	probably null
R5687:Cct8	UTSW	16	87488821	missense	probably benign	0.00
R6325:Cct8	UTSW	16	87495727	critical splice donor site	probably null
R6391:Cct8	UTSW	16	87487678	missense	probably benign	0.00
R6395:Cct8	UTSW	16	87486476	nonsense	probably null
R7252:Cct8	UTSW	16	87484919	missense	probably benign	0.01
R7570:Cct8	UTSW	16	87491322	missense	probably benign	0.18
R8397:Cct8	UTSW	16	87493763	missense	possibly damaging	0.95
R8766:Cct8	UTSW	16	87488868	missense	probably damaging	0.97
R9309:Cct8	UTSW	16	87485704	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTGCCCAGAATGCGTTCTCC -3'
(R):5'- CACCAAGACTGTGACAGGTTTG -3'

Sequencing Primer
(F):5'- AGAATGCGTTCTCCTCCTTACTCAAG -3'
(R):5'- CCAAGACTGTGACAGGTTTGAAAGG -3'

Posted On

2016-06-06