Incidental Mutation 'IGL03188:Cct5'
ID |
412509 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cct5
|
Ensembl Gene |
ENSMUSG00000022234 |
Gene Name |
chaperonin containing TCP1 subunit 5 |
Synonyms |
TCPE, Ccte |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03188
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
31590946-31601950 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31598148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 55
(N55S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022842
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022842]
[ENSMUST00000042702]
[ENSMUST00000161266]
[ENSMUST00000161061]
|
AlphaFold |
P80316 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022842
AA Change: N55S
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000022842 Gene: ENSMUSG00000022234 AA Change: N55S
Domain | Start | End | E-Value | Type |
Pfam:Cpn60_TCP1
|
44 |
537 |
7.7e-160 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000042702
|
SMART Domains |
Protein: ENSMUSP00000039094 Gene: ENSMUSG00000039065
Domain | Start | End | E-Value | Type |
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
SCOP:d1dusa_
|
87 |
186 |
2e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159121
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159449
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160146
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160174
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161266
AA Change: N17S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000125566 Gene: ENSMUSG00000022234 AA Change: N17S
Domain | Start | End | E-Value | Type |
Pfam:Cpn60_TCP1
|
6 |
199 |
5.4e-61 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161061
|
SMART Domains |
Protein: ENSMUSP00000124619 Gene: ENSMUSG00000039065
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
C |
A |
8: 114,425,656 (GRCm39) |
C1202F |
probably damaging |
Het |
Ago2 |
C |
T |
15: 72,995,182 (GRCm39) |
V466I |
probably benign |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Aptx |
A |
T |
4: 40,695,143 (GRCm39) |
|
probably null |
Het |
Aurka |
A |
T |
2: 172,205,688 (GRCm39) |
D123E |
possibly damaging |
Het |
Btaf1 |
T |
C |
19: 36,926,508 (GRCm39) |
I60T |
possibly damaging |
Het |
Ccdc154 |
A |
T |
17: 25,383,067 (GRCm39) |
|
probably null |
Het |
Cntnap3 |
A |
G |
13: 64,929,559 (GRCm39) |
S547P |
probably damaging |
Het |
Efl1 |
T |
A |
7: 82,320,909 (GRCm39) |
I114N |
probably damaging |
Het |
Gprin1 |
T |
C |
13: 54,886,465 (GRCm39) |
D603G |
probably benign |
Het |
Il16 |
A |
G |
7: 83,337,371 (GRCm39) |
S115P |
probably benign |
Het |
Kalrn |
C |
A |
16: 34,134,562 (GRCm39) |
V401L |
probably benign |
Het |
Kcnq4 |
T |
A |
4: 120,561,623 (GRCm39) |
K482I |
possibly damaging |
Het |
L3mbtl3 |
C |
T |
10: 26,218,515 (GRCm39) |
A114T |
unknown |
Het |
Lig1 |
G |
A |
7: 13,045,032 (GRCm39) |
|
probably benign |
Het |
Lnx1 |
G |
A |
5: 74,780,924 (GRCm39) |
T199M |
probably damaging |
Het |
Mapk13 |
A |
G |
17: 28,995,557 (GRCm39) |
|
probably benign |
Het |
Mfsd2b |
A |
T |
12: 4,916,538 (GRCm39) |
|
probably null |
Het |
Mrpl3 |
A |
G |
9: 104,934,264 (GRCm39) |
D137G |
probably benign |
Het |
Muc15 |
A |
G |
2: 110,562,044 (GRCm39) |
D160G |
probably benign |
Het |
Myh4 |
T |
C |
11: 67,137,369 (GRCm39) |
|
probably null |
Het |
Nipa2 |
T |
G |
7: 55,582,680 (GRCm39) |
N355T |
probably benign |
Het |
Or11h4 |
A |
T |
14: 50,974,315 (GRCm39) |
Y101* |
probably null |
Het |
Or2v2 |
T |
C |
11: 49,004,536 (GRCm39) |
N6D |
probably damaging |
Het |
Or51a43 |
A |
G |
7: 103,717,945 (GRCm39) |
S98P |
possibly damaging |
Het |
Or5p60 |
T |
C |
7: 107,723,841 (GRCm39) |
T210A |
probably benign |
Het |
Pfkm |
G |
T |
15: 98,021,124 (GRCm39) |
|
probably null |
Het |
Ppip5k1 |
A |
G |
2: 121,157,327 (GRCm39) |
|
probably benign |
Het |
Ppp1r18 |
A |
G |
17: 36,178,857 (GRCm39) |
D244G |
possibly damaging |
Het |
Rimoc1 |
A |
G |
15: 4,018,187 (GRCm39) |
Y163H |
probably damaging |
Het |
Scn2a |
T |
C |
2: 65,501,997 (GRCm39) |
S107P |
probably damaging |
Het |
Scn5a |
A |
T |
9: 119,351,632 (GRCm39) |
I783N |
probably damaging |
Het |
Snx1 |
A |
G |
9: 66,001,734 (GRCm39) |
W307R |
probably damaging |
Het |
Spata31g1 |
A |
G |
4: 42,971,225 (GRCm39) |
Y186C |
possibly damaging |
Het |
Stk11ip |
G |
A |
1: 75,511,079 (GRCm39) |
V928M |
probably benign |
Het |
Tgm4 |
A |
G |
9: 122,874,101 (GRCm39) |
M114V |
probably null |
Het |
Trpm2 |
G |
A |
10: 77,754,743 (GRCm39) |
R1248C |
probably benign |
Het |
Txnrd1 |
T |
C |
10: 82,720,880 (GRCm39) |
I347T |
possibly damaging |
Het |
Unc5a |
A |
G |
13: 55,147,316 (GRCm39) |
S106G |
probably damaging |
Het |
Vmn2r85 |
T |
C |
10: 130,254,612 (GRCm39) |
M691V |
probably benign |
Het |
Zfp58 |
T |
A |
13: 67,639,528 (GRCm39) |
Q321L |
probably benign |
Het |
|
Other mutations in Cct5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00847:Cct5
|
APN |
15 |
31,591,073 (GRCm39) |
unclassified |
probably benign |
|
IGL02656:Cct5
|
APN |
15 |
31,597,576 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03052:Cct5
|
UTSW |
15 |
31,597,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R0279:Cct5
|
UTSW |
15 |
31,591,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R1933:Cct5
|
UTSW |
15 |
31,591,154 (GRCm39) |
missense |
probably benign |
0.05 |
R2086:Cct5
|
UTSW |
15 |
31,594,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R4482:Cct5
|
UTSW |
15 |
31,597,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R5331:Cct5
|
UTSW |
15 |
31,594,448 (GRCm39) |
unclassified |
probably benign |
|
R5618:Cct5
|
UTSW |
15 |
31,598,161 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8828:Cct5
|
UTSW |
15 |
31,594,658 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9145:Cct5
|
UTSW |
15 |
31,591,107 (GRCm39) |
missense |
|
|
R9433:Cct5
|
UTSW |
15 |
31,592,883 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9644:Cct5
|
UTSW |
15 |
31,601,845 (GRCm39) |
missense |
probably benign |
0.42 |
X0023:Cct5
|
UTSW |
15 |
31,601,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |