Incidental Mutation 'R3905:Cct7'
| ID |
309142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cct7
|
| Ensembl Gene |
ENSMUSG00000030007 |
| Gene Name |
chaperonin containing TCP1 subunit 7 |
| Synonyms |
Cctz, Ccth |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R3905 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
85428496-85445457 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85443690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 353
(I353F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032078]
[ENSMUST00000159062]
[ENSMUST00000161078]
[ENSMUST00000161546]
[ENSMUST00000204489]
[ENSMUST00000204592]
|
| AlphaFold |
P80313 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032078
AA Change: I353F
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032078
Gene: ENSMUSG00000030007
AA Change: I353F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
32 |
524 |
1.8e-163 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159062
|
| SMART Domains |
Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
8 |
33 |
5.81e-2 |
SMART |
|
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
192 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
197 |
340 |
2e-5 |
SMART |
|
low complexity region
|
352 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
440 |
N/A |
INTRINSIC |
|
Pfam:F-box
|
536 |
592 |
4.8e-5 |
PFAM |
|
Pfam:F-box-like
|
554 |
593 |
9e-10 |
PFAM |
|
low complexity region
|
745 |
759 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161078
|
| SMART Domains |
Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
8 |
33 |
5.81e-2 |
SMART |
|
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
192 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
197 |
340 |
2e-5 |
SMART |
|
low complexity region
|
352 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
440 |
N/A |
INTRINSIC |
|
Pfam:F-box
|
536 |
592 |
4.8e-5 |
PFAM |
|
Pfam:F-box-like
|
554 |
593 |
9e-10 |
PFAM |
|
low complexity region
|
745 |
759 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161546
|
| SMART Domains |
Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
8 |
33 |
5.81e-2 |
SMART |
|
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
192 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
197 |
340 |
2e-5 |
SMART |
|
low complexity region
|
352 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
540 |
N/A |
INTRINSIC |
|
Pfam:F-box-like
|
554 |
593 |
5.6e-10 |
PFAM |
|
low complexity region
|
745 |
759 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204489
|
| SMART Domains |
Protein: ENSMUSP00000144919
Gene: ENSMUSG00000030007
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4B2T|H
|
1 |
53 |
2e-29 |
PDB |
|
Blast:VWA
|
5 |
51 |
4e-7 |
BLAST |
|
SCOP:d1a6da1
|
16 |
51 |
2e-8 |
SMART |
|
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204592
AA Change: I311F
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144893
Gene: ENSMUSG00000030007
AA Change: I311F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
32 |
91 |
6e-21 |
PFAM |
|
Pfam:Cpn60_TCP1
|
88 |
482 |
5e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205143
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205096
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,307,389 (GRCm39) |
I1964N |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,318,616 (GRCm39) |
F1796L |
probably benign |
Het |
| Abca17 |
T |
A |
17: 24,515,257 (GRCm39) |
M821L |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ap4b1 |
A |
T |
3: 103,726,209 (GRCm39) |
I262F |
possibly damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,497,928 (GRCm39) |
E286D |
probably benign |
Het |
| Bard1 |
T |
C |
1: 71,106,339 (GRCm39) |
I429M |
possibly damaging |
Het |
| Bcl7c |
T |
C |
7: 127,266,155 (GRCm39) |
R198G |
possibly damaging |
Het |
| Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
| Ccdc159 |
T |
A |
9: 21,845,815 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
A |
G |
4: 118,453,036 (GRCm39) |
Y556H |
probably damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,927,531 (GRCm39) |
L324P |
possibly damaging |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Il22 |
C |
T |
10: 118,041,529 (GRCm39) |
R81* |
probably null |
Het |
| Impa1 |
T |
C |
3: 10,381,094 (GRCm39) |
T263A |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,956,166 (GRCm39) |
Y609C |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
| Lrfn1 |
G |
A |
7: 28,166,294 (GRCm39) |
G563R |
possibly damaging |
Het |
| Mark1 |
A |
C |
1: 184,640,632 (GRCm39) |
|
probably null |
Het |
| Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,448,227 (GRCm39) |
Y1N |
probably damaging |
Het |
| Nek3 |
T |
C |
8: 22,623,107 (GRCm39) |
E309G |
probably benign |
Het |
| Or10h28 |
T |
C |
17: 33,487,749 (GRCm39) |
F17S |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,724,788 (GRCm39) |
Q489L |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,076,178 (GRCm39) |
E376G |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,208,882 (GRCm39) |
E2494K |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,373,511 (GRCm39) |
H1349R |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Robo4 |
T |
A |
9: 37,314,801 (GRCm39) |
C218* |
probably null |
Het |
| Rxfp2 |
A |
T |
5: 149,979,450 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
A |
G |
12: 81,014,441 (GRCm39) |
I93T |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,154,891 (GRCm39) |
R1411Q |
probably damaging |
Het |
| Tbl3 |
C |
T |
17: 24,921,006 (GRCm39) |
D563N |
probably damaging |
Het |
| Tec |
A |
G |
5: 72,917,705 (GRCm39) |
S505P |
probably damaging |
Het |
| Toporsl |
A |
T |
4: 52,611,750 (GRCm39) |
R548* |
probably null |
Het |
| Vmn1r39 |
G |
A |
6: 66,781,479 (GRCm39) |
Q243* |
probably null |
Het |
| Vmn2r9 |
C |
A |
5: 108,995,785 (GRCm39) |
A288S |
probably benign |
Het |
|
| Other mutations in Cct7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02223:Cct7
|
APN |
6 |
85,439,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02292:Cct7
|
APN |
6 |
85,438,091 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02724:Cct7
|
APN |
6 |
85,436,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02740:Cct7
|
APN |
6 |
85,445,252 (GRCm39) |
missense |
probably benign |
|
|
PIT4495001:Cct7
|
UTSW |
6 |
85,436,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Cct7
|
UTSW |
6 |
85,438,536 (GRCm39) |
missense |
probably null |
0.55 |
|
R1363:Cct7
|
UTSW |
6 |
85,443,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1378:Cct7
|
UTSW |
6 |
85,444,545 (GRCm39) |
splice site |
probably null |
|
|
R2076:Cct7
|
UTSW |
6 |
85,445,122 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2210:Cct7
|
UTSW |
6 |
85,436,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4298:Cct7
|
UTSW |
6 |
85,445,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4422:Cct7
|
UTSW |
6 |
85,444,127 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6519:Cct7
|
UTSW |
6 |
85,439,132 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6903:Cct7
|
UTSW |
6 |
85,443,675 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6925:Cct7
|
UTSW |
6 |
85,436,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Cct7
|
UTSW |
6 |
85,443,627 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7458:Cct7
|
UTSW |
6 |
85,436,978 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8133:Cct7
|
UTSW |
6 |
85,438,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Cct7
|
UTSW |
6 |
85,444,625 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1177:Cct7
|
UTSW |
6 |
85,443,651 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGGGCTATCCTATGCAG -3'
(R):5'- TGCTGTGGTATCACTGAAGCATC -3'
Sequencing Primer
(F):5'- TATCCTATGCAGAGGGCTCAG -3'
(R):5'- CTGTGGTATCACTGAAGCATCAAAGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation