Incidental Mutation 'R1244:Cct4'
ID |
152097 |
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 |
039311-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R1244 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
22940593-22953336 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 22946417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 131
(E131G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020562
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020562]
[ENSMUST00000173853]
[ENSMUST00000173867]
[ENSMUST00000174047]
[ENSMUST00000174659]
|
AlphaFold |
P80315 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020562
AA Change: E131G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000020562 Gene: ENSMUSG00000007739 AA Change: E131G
Domain | Start | End | E-Value | Type |
Pfam:Cpn60_TCP1
|
61 |
509 |
1.6e-122 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145912
|
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 benign
Transcript: ENSMUST00000173867
AA Change: E161G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000133523 Gene: ENSMUSG00000007739 AA Change: E161G
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 |
noncoding transcript
Transcript: ENSMUST00000174244
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174746
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174659
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
C |
T |
12: 71,262,918 (GRCm39) |
T1417I |
probably benign |
Het |
Abca14 |
G |
A |
7: 119,815,561 (GRCm39) |
A270T |
probably benign |
Het |
Abtb3 |
C |
A |
10: 85,223,227 (GRCm39) |
T12K |
unknown |
Het |
Ash2l |
T |
C |
8: 26,307,449 (GRCm39) |
S529G |
probably damaging |
Het |
Atp13a3 |
T |
C |
16: 30,180,654 (GRCm39) |
Y125C |
probably benign |
Het |
Calca |
A |
G |
7: 114,232,962 (GRCm39) |
Y96H |
probably damaging |
Het |
Cd84 |
A |
G |
1: 171,679,397 (GRCm39) |
D25G |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,749,557 (GRCm39) |
D1728G |
probably damaging |
Het |
Cyp39a1 |
A |
T |
17: 44,060,836 (GRCm39) |
K461N |
probably benign |
Het |
Ddx50 |
T |
A |
10: 62,478,703 (GRCm39) |
Q161L |
probably damaging |
Het |
Golga5 |
A |
G |
12: 102,438,554 (GRCm39) |
T90A |
probably benign |
Het |
Heatr3 |
A |
G |
8: 88,868,367 (GRCm39) |
E39G |
possibly damaging |
Het |
Hipk3 |
G |
A |
2: 104,263,601 (GRCm39) |
R905W |
probably damaging |
Het |
Hsd11b1 |
T |
G |
1: 192,906,068 (GRCm39) |
M175L |
probably benign |
Het |
Htra1 |
G |
A |
7: 130,586,799 (GRCm39) |
V461I |
possibly damaging |
Het |
Il10 |
A |
G |
1: 130,951,953 (GRCm39) |
D162G |
probably damaging |
Het |
Mapre2 |
A |
G |
18: 23,986,774 (GRCm39) |
K62R |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Ogfod1 |
A |
G |
8: 94,763,999 (GRCm39) |
D28G |
probably benign |
Het |
Or5an10 |
A |
T |
19: 12,275,860 (GRCm39) |
I212N |
probably damaging |
Het |
Perm1 |
C |
T |
4: 156,302,340 (GRCm39) |
R295C |
probably benign |
Het |
Ppp4c |
A |
G |
7: 126,385,452 (GRCm39) |
V119A |
probably damaging |
Het |
Scn2a |
T |
C |
2: 65,593,999 (GRCm39) |
I1616T |
probably damaging |
Het |
Sipa1l1 |
A |
G |
12: 82,472,190 (GRCm39) |
N1390S |
probably benign |
Het |
Sub1 |
A |
T |
15: 11,991,130 (GRCm39) |
V37E |
possibly damaging |
Het |
Tbc1d17 |
A |
T |
7: 44,493,822 (GRCm39) |
V267E |
probably damaging |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vmn1r77 |
A |
T |
7: 11,775,847 (GRCm39) |
T140S |
possibly damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,441,092 (GRCm39) |
Y255* |
probably null |
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 |
|
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 |
|
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'- GGCTCTCTTTTAGACTCCTGTACCAAAC -3'
(R):5'- ACTTTCATCACCGCATTGACACTCATT -3'
Sequencing Primer
(F):5'- AGACTCCTGTACCAAACTTCTG -3'
(R):5'- atctgcttgcctgcacc -3'
|
Posted On |
2014-01-29 |