Incidental Mutation 'R8003:Cct4'
| ID |
616465 |
| 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 |
046043-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R8003 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
22940593-22953336 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 22946040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020562]
[ENSMUST00000173853]
[ENSMUST00000173867]
[ENSMUST00000174047]
[ENSMUST00000174659]
|
| AlphaFold |
P80315 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020562
|
| SMART Domains |
Protein: ENSMUSP00000020562
Gene: ENSMUSG00000007739
| 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 null
Transcript: ENSMUST00000173867
|
| SMART Domains |
Protein: ENSMUSP00000133523
Gene: ENSMUSG00000007739
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
G |
14: 56,019,092 (GRCm39) |
V155A |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,695,208 (GRCm39) |
Y527C |
probably damaging |
Het |
| Brca1 |
C |
T |
11: 101,415,303 (GRCm39) |
G944R |
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,687,286 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
C |
2: 172,269,879 (GRCm39) |
F654L |
unknown |
Het |
| Ccdc178 |
A |
T |
18: 21,977,944 (GRCm39) |
|
probably null |
Het |
| Cish |
T |
C |
9: 107,174,227 (GRCm39) |
V5A |
possibly damaging |
Het |
| Col5a1 |
G |
A |
2: 27,848,340 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,703,455 (GRCm39) |
N3037K |
unknown |
Het |
| Csmd2 |
T |
A |
4: 128,432,980 (GRCm39) |
C3012* |
probably null |
Het |
| Dclk2 |
T |
C |
3: 86,700,608 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
A |
T |
8: 110,282,772 (GRCm39) |
D631E |
probably damaging |
Het |
| Eif2ak2 |
C |
A |
17: 79,183,652 (GRCm39) |
A66S |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,361,782 (GRCm39) |
|
probably null |
Het |
| Fbxw10 |
T |
G |
11: 62,748,587 (GRCm39) |
C405G |
possibly damaging |
Het |
| Galnt13 |
G |
T |
2: 54,950,497 (GRCm39) |
G393* |
probably null |
Het |
| Gm5591 |
G |
T |
7: 38,219,183 (GRCm39) |
H563Q |
probably damaging |
Het |
| Gtf3c5 |
A |
G |
2: 28,459,373 (GRCm39) |
I394T |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,477,581 (GRCm39) |
A2835T |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,818,652 (GRCm39) |
D2781G |
possibly damaging |
Het |
| Kmt2b |
G |
T |
7: 30,268,802 (GRCm39) |
H2642Q |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,354,684 (GRCm39) |
D754E |
probably damaging |
Het |
| Lrpprc |
A |
C |
17: 85,059,745 (GRCm39) |
S690A |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,976,193 (GRCm39) |
T805A |
probably benign |
Het |
| Mthfd1l |
T |
G |
10: 3,934,147 (GRCm39) |
S160A |
probably benign |
Het |
| Mtmr6 |
G |
A |
14: 60,519,544 (GRCm39) |
|
probably null |
Het |
| Mybpc2 |
A |
T |
7: 44,158,488 (GRCm39) |
M698K |
probably damaging |
Het |
| Myh8 |
T |
A |
11: 67,190,586 (GRCm39) |
L1304M |
probably damaging |
Het |
| Mylip |
T |
A |
13: 45,557,947 (GRCm39) |
V117E |
probably benign |
Het |
| Npc1l1 |
T |
C |
11: 6,165,129 (GRCm39) |
Q1061R |
probably benign |
Het |
| Or12e13 |
A |
G |
2: 87,664,081 (GRCm39) |
R233G |
probably benign |
Het |
| Or5d37 |
A |
T |
2: 87,923,589 (GRCm39) |
Y230* |
probably null |
Het |
| Pkd2l2 |
G |
A |
18: 34,561,232 (GRCm39) |
M413I |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,138,980 (GRCm39) |
G19D |
unknown |
Het |
| Pramel17 |
T |
C |
4: 101,693,130 (GRCm39) |
K290R |
probably benign |
Het |
| Psg22 |
A |
C |
7: 18,458,350 (GRCm39) |
Y347S |
probably damaging |
Het |
| Ptpre |
C |
A |
7: 135,270,765 (GRCm39) |
Q314K |
probably damaging |
Het |
| Rgs6 |
T |
C |
12: 83,032,144 (GRCm39) |
S54P |
probably damaging |
Het |
| Sbds |
C |
A |
5: 130,279,726 (GRCm39) |
V130F |
possibly damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc24a2 |
A |
T |
4: 87,094,552 (GRCm39) |
D322E |
probably benign |
Het |
| Slc45a4 |
G |
T |
15: 73,457,162 (GRCm39) |
Y585* |
probably null |
Het |
| Slc7a4 |
A |
C |
16: 17,392,315 (GRCm39) |
V373G |
possibly damaging |
Het |
| Sulf1 |
G |
A |
1: 12,908,825 (GRCm39) |
V613M |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,472,434 (GRCm39) |
D150G |
probably damaging |
Het |
| Tnpo3 |
C |
A |
6: 29,551,900 (GRCm39) |
V888F |
probably benign |
Het |
| Trim9 |
T |
C |
12: 70,393,608 (GRCm39) |
H112R |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,711 (GRCm39) |
I21T |
probably benign |
Het |
| Wdr41 |
C |
A |
13: 95,149,654 (GRCm39) |
A286E |
possibly damaging |
Het |
| Wnt8b |
T |
A |
19: 44,500,396 (GRCm39) |
C328S |
probably damaging |
Het |
| Ybx3 |
A |
T |
6: 131,345,400 (GRCm39) |
Y324* |
probably null |
Het |
| Zmynd15 |
T |
A |
11: 70,351,767 (GRCm39) |
H124Q |
probably benign |
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 |
|
R8201:Cct4
|
UTSW |
11 |
22,949,115 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- TCATGCTCTGAGTTCGCTG -3'
(R):5'- ATGGTTGGATGTATACCTGCC -3'
Sequencing Primer
(F):5'- GTTAGGGTCTCATTTCTTAGCATC -3'
(R):5'- GGATGTATACCTGCCATTTATGAACC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation