Mutagenetix > Incidental Mutation

Incidental Mutation 'R1548:Cct8'

172360

Institutional Source

Beutler Lab

Gene Symbol

Cct8

Ensembl Gene

ENSMUSG00000025613

Gene Name

chaperonin containing TCP1 subunit 8

Synonyms

Tcpq, Cctq

MMRRC Submission

039587-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R1548 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87280213-87292757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87282472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 482 (I482T)

Ref Sequence

ENSEMBL: ENSMUSP00000026704 (fasta)

Gene Model

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

AlphaFold

P42932

Predicted Effect

probably damaging
Transcript: ENSMUST00000026704
AA Change: I482T

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

SMART Domains

Protein: ENSMUSP00000026704
Gene: ENSMUSG00000025613
AA Change: I482T

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: I233T

SMART Domains

Protein: ENSMUSP00000134920
Gene: ENSMUSG00000025613
AA Change: I233T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000175977
AA Change: I423T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135651
Gene: ENSMUSG00000025613
AA Change: I423T

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

noncoding transcript
Transcript: ENSMUST00000176589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176241

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

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

Meta Mutation Damage Score

0.3904

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (69/70)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,588,818 (GRCm39)	R78S	probably damaging	Het
Acad10	G	C	5: 121,764,104 (GRCm39)		probably benign	Het
Acad10	G	T	5: 121,764,103 (GRCm39)		probably benign	Het
Ang2	C	A	14: 51,432,990 (GRCm39)	E131*	probably null	Het
Ankfn1	T	C	11: 89,417,367 (GRCm39)	N82D	probably damaging	Het
Anks1b	T	C	10: 89,885,847 (GRCm39)	I181T	possibly damaging	Het
Bcl2l12	C	G	7: 44,642,242 (GRCm39)	G215R	probably damaging	Het
Bnc2	A	G	4: 84,194,194 (GRCm39)	Y1044H	probably damaging	Het
Cacna1s	T	C	1: 136,038,675 (GRCm39)	F1172S	probably damaging	Het
Cfap74	C	T	4: 155,518,502 (GRCm39)	T580I	probably benign	Het
Cib1	A	T	7: 79,878,162 (GRCm39)	Y105*	probably null	Het
Cpa1	G	A	6: 30,642,334 (GRCm39)	G245D	probably damaging	Het
Csmd3	A	G	15: 47,845,371 (GRCm39)	V801A	possibly damaging	Het
Ddx10	T	C	9: 53,060,861 (GRCm39)		probably null	Het
Ddx4	T	C	13: 112,736,531 (GRCm39)	N613S	probably damaging	Het
Drd3	A	G	16: 43,641,704 (GRCm39)	D340G	probably benign	Het
E2f4	A	G	8: 106,031,320 (GRCm39)	*411W	probably null	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Foxp1	A	T	6: 98,922,381 (GRCm39)	I450N	probably damaging	Het
Ftdc1	A	T	16: 58,436,202 (GRCm39)	D40E	probably benign	Het
Gpr19	A	G	6: 134,847,047 (GRCm39)	F175S	possibly damaging	Het
Gpr21	C	T	2: 37,408,084 (GRCm39)	T210M	probably damaging	Het
Grhl2	C	T	15: 37,336,567 (GRCm39)	A488V	probably benign	Het
Hif3a	T	C	7: 16,778,328 (GRCm39)	T435A	probably benign	Het
Hoxb4	C	T	11: 96,209,725 (GRCm39)	R44*	probably null	Het
Ifi47	A	G	11: 48,986,698 (GRCm39)	D155G	probably damaging	Het
Igdcc4	T	C	9: 65,042,509 (GRCm39)	L142P	probably benign	Het
Ints6	G	A	14: 62,951,141 (GRCm39)	P296L	probably damaging	Het
Itga3	A	G	11: 94,937,745 (GRCm39)		probably null	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Krtap20-1	G	A	16: 88,812,277 (GRCm39)		probably benign	Het
Lgals12	A	T	19: 7,581,677 (GRCm39)	H50Q	probably benign	Het
Lrp12	A	G	15: 39,735,902 (GRCm39)	S696P	probably damaging	Het
Lrp6	G	A	6: 134,436,392 (GRCm39)	T1258I	possibly damaging	Het
Meis2	C	T	2: 115,889,183 (GRCm39)	D190N	probably damaging	Het
Mir100hg	T	C	9: 41,492,672 (GRCm39)	L116P	probably damaging	Het
Mon2	C	T	10: 122,871,912 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,238,368 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myo15a	A	G	11: 60,379,064 (GRCm39)	H1394R	probably damaging	Het
Myo5a	A	T	9: 75,079,028 (GRCm39)	I929F	probably damaging	Het
Nek6	T	A	2: 38,458,907 (GRCm39)	Y141N	probably damaging	Het
Notch4	T	A	17: 34,787,396 (GRCm39)	C319S	probably damaging	Het
Nwd2	A	T	5: 63,957,525 (GRCm39)	D285V	probably benign	Het
Olfml1	T	C	7: 107,189,582 (GRCm39)	S216P	possibly damaging	Het
Pabpc1l	G	T	2: 163,879,091 (GRCm39)	V313F	possibly damaging	Het
Pfkfb2	G	T	1: 130,625,820 (GRCm39)	H453Q	probably benign	Het
Pigt	C	T	2: 164,343,439 (GRCm39)	T305I	probably benign	Het
Plxnb1	C	T	9: 108,929,968 (GRCm39)	L275F	possibly damaging	Het
Ppm1d	C	T	11: 85,230,431 (GRCm39)	R350C	probably damaging	Het
Prss1l	G	T	6: 41,372,945 (GRCm39)	L72F	probably damaging	Het
Rassf1	C	A	9: 107,429,045 (GRCm39)	P84T	probably benign	Het
Rgl3	G	T	9: 21,892,002 (GRCm39)	R361S	probably benign	Het
Rnf213	G	A	11: 119,333,533 (GRCm39)	R2914H	probably damaging	Het
Ryr2	A	T	13: 11,569,435 (GRCm39)	C4956*	probably null	Het
Scaper	C	T	9: 55,723,954 (GRCm39)	R668H	probably damaging	Het
Spata6	T	C	4: 111,636,203 (GRCm39)	F165L	probably benign	Het
Tcirg1	A	T	19: 3,946,845 (GRCm39)	W694R	probably benign	Het
Tmem245	A	T	4: 56,906,233 (GRCm39)	Y160*	probably null	Het
Tshr	T	C	12: 91,500,805 (GRCm39)	Y279H	probably damaging	Het
Ttf1	A	C	2: 28,955,150 (GRCm39)	K171N	probably damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Xdh	A	G	17: 74,220,896 (GRCm39)	V611A	probably damaging	Het
Zfp142	G	T	1: 74,609,263 (GRCm39)	H1408N	probably damaging	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
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
R7252:Cct8	UTSW	16	87,281,807 (GRCm39)	missense	probably benign	0.01
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'- ACTCAACGTGAAATACTTACAAGGCTCC -3'
(R):5'- CCTAGTCTCCAGGTTTGAAAGCTTGATG -3'

Sequencing Primer
(F):5'- TTACAAGGCTCCTAAATGATAACCG -3'
(R):5'- ATGTAGTCACTGGATCTCAGAGC -3'

Posted On

2014-04-13