Incidental Mutation 'R8201:Cct4'
| ID |
635680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cct4
|
| Ensembl Gene |
ENSMUSG00000007739 |
| Gene Name |
chaperonin containing TCP1 subunit 4 |
| Synonyms |
T complex protein 1, delta, Cctd, 2610204B21Rik, TCP-1 delta, A45 |
| MMRRC Submission |
067624-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R8201 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
22940593-22953336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22949115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 287
(V287E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020562]
[ENSMUST00000173853]
[ENSMUST00000173867]
[ENSMUST00000174047]
[ENSMUST00000174659]
|
| AlphaFold |
P80315 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020562
AA Change: V257E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020562
Gene: ENSMUSG00000007739
AA Change: V257E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
61 |
509 |
1.6e-122 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173853
|
| SMART Domains |
Protein: ENSMUSP00000133677
Gene: ENSMUSG00000007739
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4B2T|D
|
1 |
44 |
2e-11 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173867
AA Change: V287E
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133523
Gene: ENSMUSG00000007739
AA Change: V287E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
44 |
539 |
1.9e-159 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174047
|
| SMART Domains |
Protein: ENSMUSP00000134248
Gene: ENSMUSG00000007739
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
44 |
93 |
1.2e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174659
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,195,046 (GRCm39) |
E543G |
probably benign |
Het |
| 2210408I21Rik |
T |
A |
13: 77,341,278 (GRCm39) |
N302K |
possibly damaging |
Het |
| Apbb2 |
T |
C |
5: 66,466,458 (GRCm39) |
N609S |
probably benign |
Het |
| Atp10a |
G |
T |
7: 58,469,424 (GRCm39) |
G1092* |
probably null |
Het |
| Ccdc150 |
A |
G |
1: 54,368,646 (GRCm39) |
N618S |
probably benign |
Het |
| Cyp2j7 |
A |
T |
4: 96,083,564 (GRCm39) |
I462N |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,475,960 (GRCm39) |
A611V |
probably benign |
Het |
| Dusp10 |
C |
A |
1: 183,769,202 (GRCm39) |
A56E |
possibly damaging |
Het |
| Entrep3 |
T |
C |
3: 89,093,115 (GRCm39) |
V291A |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,908,773 (GRCm39) |
C2410G |
possibly damaging |
Het |
| Fcgrt |
T |
A |
7: 44,744,634 (GRCm39) |
Q274L |
possibly damaging |
Het |
| Fdxacb1 |
G |
T |
9: 50,681,455 (GRCm39) |
|
probably benign |
Het |
| Fubp1 |
T |
A |
3: 151,927,823 (GRCm39) |
I424N |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,060,373 (GRCm39) |
T159S |
probably damaging |
Het |
| Gm7168 |
T |
C |
17: 14,170,042 (GRCm39) |
C470R |
probably benign |
Het |
| Hebp1 |
A |
G |
6: 135,114,906 (GRCm39) |
V185A |
possibly damaging |
Het |
| Il18rap |
G |
T |
1: 40,578,429 (GRCm39) |
R280I |
possibly damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,456,093 (GRCm39) |
N771S |
probably damaging |
Het |
| Ndufaf4 |
A |
G |
4: 24,898,197 (GRCm39) |
N11D |
possibly damaging |
Het |
| Nkiras1 |
T |
C |
14: 18,276,908 (GRCm38) |
|
probably benign |
Het |
| Noct |
T |
C |
3: 51,155,444 (GRCm39) |
S135P |
probably benign |
Het |
| Or1e23 |
T |
A |
11: 73,407,899 (GRCm39) |
N42I |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,419,865 (GRCm39) |
*316R |
noncoding transcript |
Het |
| Or2w3b |
A |
C |
11: 58,623,940 (GRCm39) |
F17C |
probably damaging |
Het |
| Or7e177 |
G |
T |
9: 20,212,317 (GRCm39) |
G271C |
probably damaging |
Het |
| Or7e178 |
T |
C |
9: 20,225,908 (GRCm39) |
M103V |
probably benign |
Het |
| Pcdhac1 |
A |
T |
18: 37,223,892 (GRCm39) |
H235L |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,651,518 (GRCm39) |
|
probably benign |
Het |
| Pdlim1 |
A |
T |
19: 40,218,958 (GRCm39) |
D224E |
probably benign |
Het |
| Plpp3 |
G |
T |
4: 105,076,555 (GRCm39) |
G223W |
probably damaging |
Het |
| Rcan3 |
A |
G |
4: 135,147,684 (GRCm39) |
F81S |
probably damaging |
Het |
| Sel1l2 |
A |
C |
2: 140,108,312 (GRCm39) |
Y191D |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,408,447 (GRCm39) |
F833L |
probably damaging |
Het |
| Tchh |
T |
C |
3: 93,350,781 (GRCm39) |
F74L |
probably damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,278,431 (GRCm39) |
D725G |
probably benign |
Het |
| Tmem14c |
C |
T |
13: 41,171,186 (GRCm39) |
P10S |
probably benign |
Het |
| Ubb |
G |
A |
11: 62,443,053 (GRCm39) |
A28T |
probably benign |
Het |
| Vars2 |
A |
T |
17: 35,969,202 (GRCm39) |
V833E |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,507,474 (GRCm39) |
D528G |
possibly damaging |
Het |
|
| Other mutations in Cct4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00556:Cct4
|
APN |
11 |
22,947,656 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02076:Cct4
|
APN |
11 |
22,952,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02211:Cct4
|
APN |
11 |
22,943,327 (GRCm39) |
intron |
probably benign |
|
|
IGL02416:Cct4
|
APN |
11 |
22,952,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0030:Cct4
|
UTSW |
11 |
22,951,357 (GRCm39) |
unclassified |
probably benign |
|
|
R0255:Cct4
|
UTSW |
11 |
22,949,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Cct4
|
UTSW |
11 |
22,946,014 (GRCm39) |
missense |
probably benign |
|
|
R1244:Cct4
|
UTSW |
11 |
22,946,417 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1276:Cct4
|
UTSW |
11 |
22,952,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1401:Cct4
|
UTSW |
11 |
22,944,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Cct4
|
UTSW |
11 |
22,952,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Cct4
|
UTSW |
11 |
22,952,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Cct4
|
UTSW |
11 |
22,947,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3907:Cct4
|
UTSW |
11 |
22,951,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4640:Cct4
|
UTSW |
11 |
22,952,297 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4785:Cct4
|
UTSW |
11 |
22,952,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4836:Cct4
|
UTSW |
11 |
22,952,898 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5846:Cct4
|
UTSW |
11 |
22,951,354 (GRCm39) |
unclassified |
probably benign |
|
|
R7193:Cct4
|
UTSW |
11 |
22,947,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7214:Cct4
|
UTSW |
11 |
22,940,616 (GRCm39) |
unclassified |
probably benign |
|
|
R7336:Cct4
|
UTSW |
11 |
22,951,564 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7419:Cct4
|
UTSW |
11 |
22,946,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7725:Cct4
|
UTSW |
11 |
22,940,814 (GRCm39) |
missense |
probably benign |
|
|
R7951:Cct4
|
UTSW |
11 |
22,940,868 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8003:Cct4
|
UTSW |
11 |
22,946,040 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8429:Cct4
|
UTSW |
11 |
22,946,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9090:Cct4
|
UTSW |
11 |
22,951,389 (GRCm39) |
missense |
probably benign |
|
|
R9271:Cct4
|
UTSW |
11 |
22,951,389 (GRCm39) |
missense |
probably benign |
|
|
R9790:Cct4
|
UTSW |
11 |
22,949,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Cct4
|
UTSW |
11 |
22,949,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Cct4
|
UTSW |
11 |
22,947,118 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTATATAACTGGTAGGTGTGGGC -3'
(R):5'- TTAAGAACTGCTGGGTAGAGGC -3'
Sequencing Primer
(F):5'- TGGGCTGGTCTTTCACTTAAC -3'
(R):5'- AGCTGCTTAGAAACTCCAGTTCGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation