Incidental Mutation 'R7193:Cct4'
ID |
559731 |
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 |
045334-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R7193 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
22940593-22953336 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 22947111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 201
(T201A)
|
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
AA Change: T171A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000020562 Gene: ENSMUSG00000007739 AA Change: T171A
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 benign
Transcript: ENSMUST00000173867
AA Change: T201A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000133523 Gene: ENSMUSG00000007739 AA Change: T201A
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: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (60/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,265,963 (GRCm39) |
|
probably null |
Het |
Abca16 |
T |
C |
7: 120,026,409 (GRCm39) |
S124P |
probably damaging |
Het |
Acan |
A |
T |
7: 78,736,090 (GRCm39) |
S179C |
probably damaging |
Het |
Atg2b |
A |
C |
12: 105,630,967 (GRCm39) |
H319Q |
probably damaging |
Het |
Bptf |
G |
A |
11: 106,945,635 (GRCm39) |
Q2535* |
probably null |
Het |
Brpf3 |
T |
C |
17: 29,055,665 (GRCm39) |
*1205R |
probably null |
Het |
Cabyr |
C |
A |
18: 12,884,815 (GRCm39) |
P434Q |
probably damaging |
Het |
Cacna1g |
C |
A |
11: 94,300,057 (GRCm39) |
D2268Y |
possibly damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cdyl2 |
A |
C |
8: 117,350,733 (GRCm39) |
S133A |
probably benign |
Het |
Cep76 |
A |
G |
18: 67,774,204 (GRCm39) |
L14P |
possibly damaging |
Het |
Cert1 |
T |
A |
13: 96,767,341 (GRCm39) |
|
probably null |
Het |
Crybg3 |
A |
T |
16: 59,379,956 (GRCm39) |
S433T |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,849,423 (GRCm39) |
K574R |
probably damaging |
Het |
Cyp2u1 |
T |
C |
3: 131,084,792 (GRCm39) |
I527V |
probably benign |
Het |
Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
F5 |
A |
G |
1: 164,046,966 (GRCm39) |
N2142S |
probably damaging |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Flnc |
A |
G |
6: 29,450,870 (GRCm39) |
Y1506C |
probably damaging |
Het |
Foxred2 |
T |
A |
15: 77,836,230 (GRCm39) |
S376C |
probably damaging |
Het |
Gbe1 |
T |
C |
16: 70,292,258 (GRCm39) |
L530P |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,525,331 (GRCm39) |
R3398G |
probably null |
Het |
Igf1r |
T |
C |
7: 67,836,905 (GRCm39) |
L587P |
probably damaging |
Het |
Ints15 |
A |
G |
5: 143,293,598 (GRCm39) |
V293A |
probably benign |
Het |
Kcna3 |
T |
C |
3: 106,943,853 (GRCm39) |
Y39H |
probably benign |
Het |
Krtap5-2 |
GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA |
GCTACAGCCTCCCTTGCA |
7: 141,728,980 (GRCm39) |
|
probably benign |
Het |
Mbl1 |
T |
C |
14: 40,880,669 (GRCm39) |
F186L |
probably damaging |
Het |
Ncam2 |
A |
T |
16: 81,386,683 (GRCm39) |
K687N |
probably damaging |
Het |
Nedd4l |
T |
C |
18: 65,130,441 (GRCm39) |
V24A |
probably damaging |
Het |
Nek1 |
A |
G |
8: 61,526,612 (GRCm39) |
E661G |
probably damaging |
Het |
Nudt14 |
G |
T |
12: 112,902,940 (GRCm39) |
D28E |
probably benign |
Het |
Or13n4 |
T |
C |
7: 106,423,798 (GRCm39) |
|
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,459,248 (GRCm39) |
C213S |
probably benign |
Het |
Or2n1 |
T |
A |
17: 38,485,987 (GRCm39) |
I4N |
probably benign |
Het |
Or4k47 |
A |
T |
2: 111,451,600 (GRCm39) |
V273E |
probably damaging |
Het |
Pdk4 |
A |
T |
6: 5,487,089 (GRCm39) |
M319K |
probably benign |
Het |
Pfkp |
T |
C |
13: 6,643,252 (GRCm39) |
N522S |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,207,817 (GRCm39) |
V234A |
possibly damaging |
Het |
Pik3c2b |
C |
A |
1: 133,007,512 (GRCm39) |
H625Q |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,941,627 (GRCm39) |
S1117P |
probably damaging |
Het |
Prdm2 |
A |
T |
4: 142,907,464 (GRCm39) |
V36D |
probably damaging |
Het |
Prep |
C |
T |
10: 44,968,795 (GRCm39) |
R98C |
probably benign |
Het |
Rae1 |
T |
C |
2: 172,850,110 (GRCm39) |
|
probably null |
Het |
Rgs3 |
T |
A |
4: 62,533,573 (GRCm39) |
V138E |
probably damaging |
Het |
Rnf185 |
T |
C |
11: 3,375,329 (GRCm39) |
T142A |
possibly damaging |
Het |
Rsph6a |
C |
A |
7: 18,799,572 (GRCm39) |
P401Q |
probably damaging |
Het |
Runx3 |
A |
T |
4: 134,848,456 (GRCm39) |
T14S |
probably benign |
Het |
Scaf11 |
A |
G |
15: 96,317,042 (GRCm39) |
S841P |
probably damaging |
Het |
Spta1 |
T |
A |
1: 174,012,178 (GRCm39) |
L328Q |
probably damaging |
Het |
Sqor |
G |
A |
2: 122,645,929 (GRCm39) |
V318M |
probably damaging |
Het |
Stox2 |
T |
C |
8: 47,639,489 (GRCm39) |
T902A |
probably benign |
Het |
Susd3 |
T |
C |
13: 49,384,679 (GRCm39) |
H248R |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,183,406 (GRCm39) |
Y4133C |
probably damaging |
Het |
Tbc1d20 |
C |
T |
2: 152,153,337 (GRCm39) |
T289M |
probably benign |
Het |
Unc80 |
T |
A |
1: 66,588,943 (GRCm39) |
F1036Y |
possibly damaging |
Het |
Zbtb7c |
T |
C |
18: 76,271,009 (GRCm39) |
C366R |
probably damaging |
Het |
Zeb1 |
A |
T |
18: 5,772,756 (GRCm39) |
D1015V |
probably damaging |
Het |
Zfp606 |
T |
G |
7: 12,227,966 (GRCm39) |
S696A |
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 |
|
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'- CTGGGTGGAGAAAACAACTTTAAC -3'
(R):5'- GCCCAGGCAGAAAGGTAATC -3'
Sequencing Primer
(F):5'- GGTGGAGAAAACAACTTTAACTTTAG -3'
(R):5'- TTGTGGAGACAGAACCTCACTCTAG -3'
|
Posted On |
2019-06-26 |