Incidental Mutation 'R5846:Cct4'
| ID |
453634 |
| 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 |
044064-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R5846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
22940593-22953336 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 22951354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020562]
[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 |
noncoding transcript
Transcript: ENSMUST00000145912
|
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000174244
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174746
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
97% (67/69) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,562,377 (GRCm39) |
S335P |
unknown |
Het |
| Ace3 |
A |
T |
11: 105,889,188 (GRCm39) |
I473F |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,886,707 (GRCm39) |
N281Y |
probably damaging |
Het |
| Adgra1 |
T |
A |
7: 139,455,196 (GRCm39) |
W275R |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,450,341 (GRCm39) |
D20G |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,807,116 (GRCm39) |
T1184A |
probably damaging |
Het |
| Atp13a2 |
T |
C |
4: 140,722,907 (GRCm39) |
V303A |
possibly damaging |
Het |
| BC004004 |
A |
T |
17: 29,501,282 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
G |
A |
6: 124,517,912 (GRCm39) |
P23S |
possibly damaging |
Het |
| C1s2 |
T |
A |
6: 124,608,123 (GRCm39) |
N197Y |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,653,980 (GRCm39) |
H539R |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,569,025 (GRCm39) |
N899I |
probably damaging |
Het |
| Chrm2 |
A |
T |
6: 36,500,385 (GRCm39) |
T81S |
probably damaging |
Het |
| Dnaaf3 |
A |
T |
7: 4,526,686 (GRCm39) |
S464T |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,900,437 (GRCm39) |
I3898N |
possibly damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,067,584 (GRCm39) |
K1187E |
probably damaging |
Het |
| Dock4 |
A |
T |
12: 40,867,735 (GRCm39) |
D1437V |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,234,942 (GRCm39) |
Q3674* |
probably null |
Het |
| Eef1a2 |
T |
C |
2: 180,794,776 (GRCm39) |
Y141C |
probably damaging |
Het |
| Fads3 |
G |
T |
19: 10,030,397 (GRCm39) |
Q178H |
probably null |
Het |
| Fbxw22 |
T |
A |
9: 109,215,829 (GRCm39) |
M140L |
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,788,707 (GRCm39) |
I178T |
probably damaging |
Het |
| Foxd1 |
T |
C |
13: 98,491,549 (GRCm39) |
M141T |
probably damaging |
Het |
| H4c2 |
T |
C |
13: 23,941,215 (GRCm39) |
V71A |
possibly damaging |
Het |
| Havcr2 |
T |
C |
11: 46,360,343 (GRCm39) |
I141T |
probably benign |
Het |
| Hectd1 |
A |
C |
12: 51,820,618 (GRCm39) |
N1190K |
probably damaging |
Het |
| Hook3 |
T |
A |
8: 26,534,355 (GRCm39) |
|
probably benign |
Het |
| Hpgd |
T |
A |
8: 56,760,702 (GRCm39) |
I133N |
possibly damaging |
Het |
| Itih2 |
T |
C |
2: 10,102,714 (GRCm39) |
R807G |
probably benign |
Het |
| Klhl35 |
G |
A |
7: 99,122,094 (GRCm39) |
G65D |
probably damaging |
Het |
| Lrch4 |
C |
G |
5: 137,631,919 (GRCm39) |
C48W |
probably damaging |
Het |
| Mafa |
A |
G |
15: 75,619,627 (GRCm39) |
S49P |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,662,584 (GRCm39) |
V1170A |
probably damaging |
Het |
| Mprip |
A |
T |
11: 59,649,380 (GRCm39) |
K1028M |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Numb |
G |
T |
12: 83,923,521 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,929,435 (GRCm39) |
L6063P |
probably damaging |
Het |
| Or2y6 |
A |
G |
11: 52,103,881 (GRCm39) |
*312Q |
probably null |
Het |
| Or6c6c |
A |
T |
10: 129,540,756 (GRCm39) |
N3I |
probably damaging |
Het |
| P3h3 |
A |
T |
6: 124,834,157 (GRCm39) |
|
probably null |
Het |
| Pi4k2a |
A |
G |
19: 42,103,477 (GRCm39) |
D329G |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,713,268 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
A |
G |
6: 3,376,754 (GRCm39) |
V169A |
probably benign |
Het |
| Sdk1 |
T |
C |
5: 142,100,148 (GRCm39) |
Y1393H |
probably damaging |
Het |
| Slc18a3 |
T |
A |
14: 32,185,880 (GRCm39) |
M168L |
probably benign |
Het |
| Smurf1 |
T |
C |
5: 144,816,190 (GRCm39) |
T722A |
probably damaging |
Het |
| Ssr2 |
C |
T |
3: 88,488,379 (GRCm39) |
P85L |
probably damaging |
Het |
| Syne2 |
G |
T |
12: 76,074,898 (GRCm39) |
A4614S |
probably benign |
Het |
| Tgfbr3 |
C |
A |
5: 107,288,521 (GRCm39) |
G380V |
possibly damaging |
Het |
| Tk1 |
G |
T |
11: 117,706,748 (GRCm39) |
|
probably benign |
Het |
| Tmem245 |
A |
T |
4: 56,903,241 (GRCm39) |
S610T |
probably benign |
Het |
| Tmtc2 |
A |
G |
10: 105,107,302 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
A |
G |
7: 104,006,578 (GRCm39) |
Y93H |
possibly damaging |
Het |
| Tsks |
A |
G |
7: 44,593,412 (GRCm39) |
D126G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,733,812 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
A |
G |
10: 123,017,647 (GRCm39) |
W50R |
probably damaging |
Het |
| Vmn2r55 |
A |
T |
7: 12,404,492 (GRCm39) |
F304I |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,339,587 (GRCm39) |
D609E |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,392,638 (GRCm39) |
|
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 |
|
|
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 |
|
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'- AGATGCCCTTAGTGATCTTGC -3'
(R):5'- TTTCCCTGGGCTTGTACAAC -3'
Sequencing Primer
(F):5'- ACCTGGAGCTATGAACTGCCATTG -3'
(R):5'- TGGGCTTGTACAACCTGTAATC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation