Incidental Mutation 'R3907:Cct4'
| ID |
310265 |
| 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 |
040908-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R3907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
22940593-22953336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22951560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 376
(I376V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020562]
[ENSMUST00000173867]
[ENSMUST00000174047]
[ENSMUST00000174659]
|
| AlphaFold |
P80315 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020562
AA Change: I346V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020562
Gene: ENSMUSG00000007739
AA Change: I346V
| 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
AA Change: I376V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000133523
Gene: ENSMUSG00000007739
AA Change: I376V
| 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
|
| Meta Mutation Damage Score |
0.1916 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
97% (56/58) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,392,877 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ank2 |
A |
G |
3: 126,810,547 (GRCm39) |
L513P |
probably damaging |
Het |
| Apba1 |
T |
C |
19: 23,914,870 (GRCm39) |
I690T |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,420,223 (GRCm39) |
|
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asns |
C |
T |
6: 7,682,270 (GRCm39) |
|
probably null |
Het |
| Aspg |
T |
A |
12: 112,078,693 (GRCm39) |
Y57* |
probably null |
Het |
| Asph |
T |
C |
4: 9,474,934 (GRCm39) |
K680R |
probably benign |
Het |
| Atp2b4 |
A |
T |
1: 133,666,324 (GRCm39) |
S243T |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
| Car4 |
G |
A |
11: 84,855,183 (GRCm39) |
V141M |
probably damaging |
Het |
| Chrm4 |
C |
T |
2: 91,758,084 (GRCm39) |
A164V |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,928,240 (GRCm39) |
D291V |
probably benign |
Het |
| Dcaf6 |
A |
T |
1: 165,251,949 (GRCm39) |
C58* |
probably null |
Het |
| Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
| Defb4 |
A |
T |
8: 19,251,277 (GRCm39) |
Q48L |
possibly damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,578,496 (GRCm39) |
A663T |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,113,541 (GRCm39) |
|
probably null |
Het |
| E130308A19Rik |
C |
T |
4: 59,752,393 (GRCm39) |
T502I |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 101,878,925 (GRCm39) |
C522R |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,643,432 (GRCm39) |
K101E |
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 |
| Gm10110 |
T |
C |
14: 90,135,583 (GRCm39) |
|
noncoding transcript |
Het |
| Gphn |
T |
A |
12: 78,540,716 (GRCm39) |
|
probably benign |
Het |
| Hars1 |
A |
T |
18: 36,915,769 (GRCm39) |
D48E |
probably benign |
Het |
| Hmgcll1 |
G |
A |
9: 75,979,943 (GRCm39) |
R111H |
probably benign |
Het |
| Ighv3-4 |
A |
G |
12: 114,217,538 (GRCm39) |
S18P |
probably damaging |
Het |
| Iws1 |
G |
A |
18: 32,212,973 (GRCm39) |
E134K |
possibly damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
| Krt16 |
A |
G |
11: 100,137,989 (GRCm39) |
V329A |
possibly damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,496,464 (GRCm39) |
M1575L |
possibly damaging |
Het |
| Mapkapk2 |
A |
T |
1: 130,984,651 (GRCm39) |
S234T |
probably damaging |
Het |
| Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,133,071 (GRCm39) |
D905E |
possibly damaging |
Het |
| Or4c117 |
A |
C |
2: 88,955,927 (GRCm39) |
Y49* |
probably null |
Het |
| Or6z7 |
A |
T |
7: 6,483,678 (GRCm39) |
V159D |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,724,788 (GRCm39) |
Q489L |
probably damaging |
Het |
| Pced1b |
T |
C |
15: 97,282,431 (GRCm39) |
S157P |
probably damaging |
Het |
| Ppp1r16b |
T |
C |
2: 158,603,410 (GRCm39) |
I345T |
probably benign |
Het |
| Prrt4 |
G |
T |
6: 29,177,173 (GRCm39) |
L199M |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,702,239 (GRCm39) |
D347G |
possibly damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Rcan1 |
A |
G |
16: 92,262,917 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
C |
T |
2: 52,002,557 (GRCm39) |
L2004F |
probably benign |
Het |
| Rnf185 |
A |
G |
11: 3,376,681 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
C |
T |
7: 143,963,313 (GRCm39) |
P307L |
probably damaging |
Het |
| Slc19a3 |
G |
A |
1: 82,992,534 (GRCm39) |
R396C |
possibly damaging |
Het |
| Stn1 |
T |
C |
19: 47,496,262 (GRCm39) |
D321G |
probably damaging |
Het |
| Taar7a |
T |
C |
10: 23,868,457 (GRCm39) |
Y308C |
probably benign |
Het |
| Tespa1 |
T |
C |
10: 130,192,666 (GRCm39) |
|
probably benign |
Het |
| Tmcc2 |
T |
C |
1: 132,288,376 (GRCm39) |
D359G |
probably damaging |
Het |
| Trhde |
C |
T |
10: 114,636,601 (GRCm39) |
G202E |
possibly damaging |
Het |
| Trip12 |
T |
C |
1: 84,709,827 (GRCm39) |
T469A |
possibly damaging |
Het |
| Trip4 |
A |
G |
9: 65,740,708 (GRCm39) |
I533T |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,983 (GRCm39) |
I154T |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,733,686 (GRCm39) |
|
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,631 (GRCm39) |
T160A |
possibly damaging |
Het |
| Usp54 |
A |
T |
14: 20,636,181 (GRCm39) |
S288T |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,585,926 (GRCm39) |
|
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 |
|
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'- CACATTGACCAGTTCACTGCTG -3'
(R):5'- CCAGCCTCAAATTAAAGTCTTCAG -3'
Sequencing Primer
(F):5'- GACCAGTTCACTGCTGACATG -3'
(R):5'- AAGTTTGATCCCTGGGACCTACATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation