Mutagenetix > Incidental Mutation

Incidental Mutation 'R1823:Cct8'

206608

Institutional Source

Beutler Lab

Gene Symbol

Cct8

Ensembl Gene

ENSMUSG00000025613

Gene Name

chaperonin containing Tcp1, subunit 8 (theta)

Synonyms

Cctq, Tcpq

MMRRC Submission

039851-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R1823 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87483326-87495873 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 87490554 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 111 (R111*)

Ref Sequence

ENSEMBL: ENSMUSP00000135830 (fasta)

Gene Model

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

AlphaFold

P42932

Predicted Effect

probably null
Transcript: ENSMUST00000026704
AA Change: R165*

SMART Domains

Protein: ENSMUSP00000026704
Gene: ENSMUSG00000025613
AA Change: R165*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000175750

SMART Domains

Protein: ENSMUSP00000134920
Gene: ENSMUSG00000025613

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

Predicted Effect

probably benign
Transcript: ENSMUST00000175977

SMART Domains

Protein: ENSMUSP00000135651
Gene: ENSMUSG00000025613

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 null
Transcript: ENSMUST00000176041
AA Change: R111*

SMART Domains

Protein: ENSMUSP00000135377
Gene: ENSMUSG00000025613
AA Change: R111*

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

probably null
Transcript: ENSMUST00000176750
AA Change: R111*

SMART Domains

Protein: ENSMUSP00000135830
Gene: ENSMUSG00000025613
AA Change: R111*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177301

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

noncoding transcript
Transcript: ENSMUST00000177485

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	C	15: 84,406,468	T213A	probably benign	Het
Adcy1	G	A	11: 7,161,312	V868I	probably benign	Het
Ahnak	G	T	19: 9,004,905	M1184I	probably damaging	Het
Akap11	T	C	14: 78,511,488	E1153G	probably damaging	Het
Amy1	T	C	3: 113,562,727	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427	L129P	probably damaging	Het
Aox2	A	T	1: 58,312,359	T702S	probably benign	Het
Apobec1	G	T	6: 122,578,886	T204K	possibly damaging	Het
Arhgef19	A	G	4: 141,249,146	R433G	probably benign	Het
Atf6b	T	A	17: 34,648,644	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,475,852		probably null	Het
Camsap2	T	C	1: 136,273,783	T662A	possibly damaging	Het
Cbs	G	A	17: 31,624,271	H229Y	probably damaging	Het
Cdc42bpb	C	T	12: 111,327,559	A250T	probably damaging	Het
Chrd	A	G	16: 20,741,347		probably benign	Het
Ckap2l	A	G	2: 129,275,579	F559L	probably damaging	Het
D630003M21Rik	T	C	2: 158,217,557	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,397,539	N557S	probably benign	Het
Dct	T	G	14: 118,036,523	N324T	probably benign	Het
Dip2a	A	T	10: 76,278,502	L999*	probably null	Het
Dock10	T	A	1: 80,543,097		probably null	Het
Dync2li1	A	T	17: 84,649,797	D330V	probably damaging	Het
Eif4g3	T	A	4: 138,180,491	D1267E	probably benign	Het
Enc1	A	G	13: 97,245,978	E332G	possibly damaging	Het
Fat2	C	T	11: 55,256,780	V3879I	probably benign	Het
Fh1	A	T	1: 175,616,548	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,337,091	L227P	probably damaging	Het
Fpr1	T	A	17: 17,877,053	M225L	probably benign	Het
Fras1	A	T	5: 96,770,688	I3528F	probably damaging	Het
Grm7	A	G	6: 111,207,769	T354A	probably benign	Het
Ift27	T	A	15: 78,173,778	I9F	possibly damaging	Het
Igf1r	A	G	7: 68,194,981	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,331,732	L738Q	probably damaging	Het
Itgam	A	T	7: 128,064,732	T44S	probably benign	Het
Ivd	T	A	2: 118,862,034	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,956,365	V251A	probably benign	Het
Mycbp2	A	G	14: 103,252,509	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,825,097		probably benign	Het
Myo3a	A	T	2: 22,340,280	Y509F	probably damaging	Het
Myocd	C	A	11: 65,178,670	M909I	probably benign	Het
Ndufv3	G	A	17: 31,531,245	R467Q	probably damaging	Het
Nkpd1	G	A	7: 19,523,252	V319M	probably damaging	Het
Olfr1216	A	G	2: 89,013,378	S229P	probably benign	Het
Olfr1342	T	A	4: 118,690,192	N87Y	probably damaging	Het
Olfr1453	C	A	19: 13,027,817	V171L	probably benign	Het
Olfr31	T	A	14: 14,328,774	L221Q	probably damaging	Het
Olfr366	T	C	2: 37,220,332	V281A	probably damaging	Het
Olfr406	C	T	11: 74,270,217	A276V	probably damaging	Het
Olfr450	G	T	6: 42,818,268	A266S	possibly damaging	Het
Parp4	T	C	14: 56,589,872		probably benign	Het
Pcdhb9	A	G	18: 37,402,818	T622A	probably benign	Het
Pdpk1	A	T	17: 24,098,176		probably benign	Het
Pkhd1	C	A	1: 20,347,457	G2490V	probably damaging	Het
Plekhg1	G	T	10: 3,903,658		probably null	Het
Plekhh2	A	G	17: 84,575,189	Y708C	probably damaging	Het
Pnp	T	C	14: 50,950,329	F107L	probably damaging	Het
Postn	T	A	3: 54,385,287		probably null	Het
Prcp	A	T	7: 92,928,675	D349V	probably damaging	Het
Prl3a1	A	T	13: 27,270,194	I52F	probably damaging	Het
Pym1	G	A	10: 128,766,044		probably benign	Het
Rad9a	A	T	19: 4,197,242	I248N	probably damaging	Het
Ror2	T	G	13: 53,110,305	E917A	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sema6d	A	G	2: 124,659,556		probably null	Het
Slc4a2	C	T	5: 24,427,620	A12V	probably damaging	Het
Slco6b1	T	G	1: 96,961,176		noncoding transcript	Het
Slf2	A	T	19: 44,935,248	H167L	possibly damaging	Het
Snx9	G	T	17: 5,920,671	G429V	probably damaging	Het
Sod3	G	T	5: 52,368,162	V68L	probably benign	Het
Spta1	T	A	1: 174,246,549	D2351E	probably benign	Het
Srpk3	G	A	X: 73,777,955	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,916,156	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569	V22A	possibly damaging	Het
Tmem27	A	G	X: 164,118,234	D184G	possibly damaging	Het
Tnfsf9	A	G	17: 57,105,738	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,315,163	L163P	possibly damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Ucp1	C	T	8: 83,294,032	T157I	probably damaging	Het
Uspl1	T	A	5: 149,214,414	L794Q	probably benign	Het
Vmn1r5	T	A	6: 56,985,595	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,410,406	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 87,037,872	I820M	probably damaging	Het
Wscd1	C	A	11: 71,760,218	P124T	probably benign	Het
Zfp780b	A	T	7: 27,963,100	C677S	possibly damaging	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
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
R5031:Cct8	UTSW	16	87487538	missense	probably damaging	0.99
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'- CAACATTGAAATTGCCAGAATCAGG -3'
(R):5'- GAAAATCCCCACATTTGTTGGATTACC -3'

Sequencing Primer
(F):5'- TTGCCAGAATCAGGAAAGATAGAAAC -3'
(R):5'- TGGATTACCAGAGTAAGTCATGTC -3'

Posted On

2014-06-23