Incidental Mutation 'R1368:Cct8'
| ID |
155903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cct8
|
| Ensembl Gene |
ENSMUSG00000025613 |
| Gene Name |
chaperonin containing TCP1 subunit 8 |
| Synonyms |
Tcpq, Cctq |
| MMRRC Submission |
039433-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R1368 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87280213-87292757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87288200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 124
(S124L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026704]
[ENSMUST00000175977]
[ENSMUST00000176041]
[ENSMUST00000176750]
[ENSMUST00000177376]
|
| AlphaFold |
P42932 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026704
AA Change: S124L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026704
Gene: ENSMUSG00000025613
AA Change: S124L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
39 |
529 |
6.7e-156 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175717
|
| 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 damaging
Transcript: ENSMUST00000175977
AA Change: S124L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135651
Gene: ENSMUSG00000025613
AA Change: S124L
| 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
AA Change: S70L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000135377
Gene: ENSMUSG00000025613
AA Change: S70L
| 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: ENSMUST00000176296
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176750
AA Change: S70L
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000135830
Gene: ENSMUSG00000025613
AA Change: S70L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
1 |
132 |
1.7e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176589
|
| 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 |
0.4959 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
98% (55/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,241,836 (GRCm39) |
D1233G |
probably benign |
Het |
| Abcc8 |
G |
A |
7: 45,772,284 (GRCm39) |
R832W |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,092,981 (GRCm39) |
T439A |
probably damaging |
Het |
| Brd10 |
C |
A |
19: 29,693,796 (GRCm39) |
S1966I |
probably damaging |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,953 (GRCm39) |
N74Y |
possibly damaging |
Het |
| Cdh9 |
T |
A |
15: 16,848,568 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
C |
T |
10: 100,330,828 (GRCm39) |
|
probably benign |
Het |
| Chrng |
T |
A |
1: 87,133,575 (GRCm39) |
L10H |
probably damaging |
Het |
| Cnn3 |
T |
C |
3: 121,250,786 (GRCm39) |
L189S |
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,585,157 (GRCm39) |
|
probably benign |
Het |
| Cxcl12 |
A |
G |
6: 117,153,111 (GRCm39) |
|
probably benign |
Het |
| Eif2b2 |
G |
A |
12: 85,270,230 (GRCm39) |
A257T |
probably damaging |
Het |
| Entrep2 |
A |
T |
7: 64,469,625 (GRCm39) |
V41E |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,858,903 (GRCm39) |
Q2341R |
possibly damaging |
Het |
| Fktn |
G |
A |
4: 53,734,880 (GRCm39) |
G173R |
probably damaging |
Het |
| Gabbr2 |
T |
C |
4: 46,674,464 (GRCm39) |
N841S |
probably benign |
Het |
| Gm5622 |
T |
A |
14: 51,899,647 (GRCm39) |
V167E |
possibly damaging |
Het |
| Gnaq |
T |
C |
19: 16,355,651 (GRCm39) |
V289A |
probably benign |
Het |
| Gpatch2l |
T |
G |
12: 86,307,439 (GRCm39) |
D272E |
possibly damaging |
Het |
| Gzmg |
G |
A |
14: 56,395,263 (GRCm39) |
T74I |
probably benign |
Het |
| Ikzf2 |
G |
A |
1: 69,578,474 (GRCm39) |
A271V |
possibly damaging |
Het |
| Lig4 |
T |
C |
8: 10,021,176 (GRCm39) |
D868G |
possibly damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,747,764 (GRCm39) |
E367G |
possibly damaging |
Het |
| Mpz |
T |
C |
1: 170,987,533 (GRCm39) |
L223P |
probably damaging |
Het |
| Muc17 |
T |
C |
5: 137,175,674 (GRCm39) |
|
probably benign |
Het |
| Or2f1b |
C |
A |
6: 42,739,613 (GRCm39) |
T209K |
possibly damaging |
Het |
| Pdcd2 |
G |
T |
17: 15,746,846 (GRCm39) |
N104K |
probably damaging |
Het |
| Pigg |
G |
T |
5: 108,465,154 (GRCm39) |
G129V |
probably damaging |
Het |
| Ppp3cc |
T |
C |
14: 70,483,311 (GRCm39) |
Y254C |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Psg23 |
A |
G |
7: 18,348,645 (GRCm39) |
V54A |
probably benign |
Het |
| Psmd3 |
A |
G |
11: 98,573,746 (GRCm39) |
D64G |
probably damaging |
Het |
| Psmg2 |
CTTCAGTT |
CTTCAGTTCAGTT |
18: 67,779,095 (GRCm39) |
|
probably null |
Het |
| Ptgdr |
T |
A |
14: 45,090,799 (GRCm39) |
I320F |
probably damaging |
Het |
| Rad50 |
T |
A |
11: 53,574,072 (GRCm39) |
K722* |
probably null |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rgs9 |
G |
A |
11: 109,138,977 (GRCm39) |
S255L |
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,298,334 (GRCm39) |
P569L |
possibly damaging |
Het |
| Rsad2 |
T |
C |
12: 26,497,147 (GRCm39) |
|
probably null |
Het |
| Scn8a |
A |
G |
15: 100,933,422 (GRCm39) |
D1501G |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,883,330 (GRCm39) |
T313A |
possibly damaging |
Het |
| Serpinc1 |
T |
A |
1: 160,821,094 (GRCm39) |
F59L |
probably damaging |
Het |
| Sike1 |
A |
G |
3: 102,903,500 (GRCm39) |
D63G |
possibly damaging |
Het |
| Slc25a11 |
T |
A |
11: 70,536,352 (GRCm39) |
|
probably null |
Het |
| Slc32a1 |
A |
G |
2: 158,453,240 (GRCm39) |
M27V |
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,187,807 (GRCm39) |
V1003A |
probably damaging |
Het |
| Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,577,315 (GRCm39) |
E75G |
possibly damaging |
Het |
| Tspan3 |
A |
T |
9: 56,054,783 (GRCm39) |
V48E |
probably benign |
Het |
| Ugt1a6b |
T |
C |
1: 88,035,358 (GRCm39) |
I232T |
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,122,772 (GRCm39) |
K2290E |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,656 (GRCm39) |
F70L |
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 |
|
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 |
|
|
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'- GTACACCGTAAGCCCATGTGACTG -3'
(R):5'- GCCTGCCATCAAGGAACTTACTGAC -3'
Sequencing Primer
(F):5'- AGCAGGTTCCAGTGATACTCC -3'
(R):5'- ATGTTGCTCCACGTACACG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation