Incidental Mutation 'IGL02492:Cops5'
| ID |
295691 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cops5
|
| Ensembl Gene |
ENSMUSG00000025917 |
| Gene Name |
COP9 signalosome subunit 5 |
| Synonyms |
COP9 complex S5, CSN5, Sgn5, JUN activation binding protein, Jab1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02492
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
10094825-10108384 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 10097377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 291
(T291S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027050]
[ENSMUST00000186528]
[ENSMUST00000188619]
|
| AlphaFold |
O35864 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027050
AA Change: T291S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027050
Gene: ENSMUSG00000025917
AA Change: T291S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:JAB_MPN
|
8 |
49 |
8e-12 |
BLAST |
|
JAB_MPN
|
54 |
191 |
1.19e-52 |
SMART |
|
Blast:JAB_MPN
|
192 |
249 |
5e-30 |
BLAST |
|
low complexity region
|
250 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139578
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186528
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188619
|
| SMART Domains |
Protein: ENSMUSP00000140115
Gene: ENSMUSG00000025917
| Domain | Start | End | E-Value | Type |
|---|
|
JAB_MPN
|
37 |
174 |
5.3e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190155
|
| 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 one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein is reported to be involved in the degradation of cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die soon after implantation and exhibit growth-retardation, decrease in cell proliferation, and an increase in cell apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(14) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(12) |
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
A |
G |
9: 53,367,159 (GRCm39) |
L2482P |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,881,945 (GRCm39) |
Y718C |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,102,262 (GRCm39) |
E1320G |
probably benign |
Het |
| Ccrl2 |
A |
G |
9: 110,884,871 (GRCm39) |
I209T |
probably benign |
Het |
| Cd200r2 |
A |
G |
16: 44,729,903 (GRCm39) |
K149R |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,907,855 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
C |
A |
8: 16,052,597 (GRCm39) |
V2176F |
probably benign |
Het |
| Ctse |
C |
A |
1: 131,595,972 (GRCm39) |
S221R |
probably damaging |
Het |
| Cxcl3 |
A |
G |
5: 90,934,199 (GRCm39) |
|
probably null |
Het |
| Cyp51 |
C |
T |
5: 4,154,304 (GRCm39) |
V2I |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,532,844 (GRCm39) |
F285L |
probably benign |
Het |
| Dst |
T |
G |
1: 34,191,274 (GRCm39) |
|
probably benign |
Het |
| Frzb |
A |
T |
2: 80,254,935 (GRCm39) |
|
probably benign |
Het |
| Gm5070 |
A |
T |
3: 95,318,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9637 |
A |
G |
14: 19,402,182 (GRCm38) |
|
noncoding transcript |
Het |
| Grip1 |
A |
G |
10: 119,765,945 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
C |
T |
2: 79,086,001 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,856,439 (GRCm39) |
I675N |
probably damaging |
Het |
| Or4n4b |
T |
G |
14: 50,536,060 (GRCm39) |
K235N |
probably damaging |
Het |
| Pcdhb20 |
G |
T |
18: 37,639,453 (GRCm39) |
V660L |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,194,069 (GRCm39) |
L484R |
possibly damaging |
Het |
| Prkg1 |
A |
T |
19: 30,701,602 (GRCm39) |
V305D |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,365,023 (GRCm39) |
|
probably benign |
Het |
| Smpd4 |
C |
T |
16: 17,457,215 (GRCm39) |
A391V |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,294,252 (GRCm39) |
L711P |
probably benign |
Het |
| Spag16 |
T |
G |
1: 69,926,688 (GRCm39) |
M261R |
probably benign |
Het |
| Steap1 |
A |
G |
5: 5,790,561 (GRCm39) |
V129A |
possibly damaging |
Het |
| Tbcd |
A |
T |
11: 121,387,960 (GRCm39) |
I364L |
probably benign |
Het |
| Trmt13 |
C |
T |
3: 116,376,192 (GRCm39) |
D400N |
possibly damaging |
Het |
| Vps13a |
A |
G |
19: 16,625,001 (GRCm39) |
S2753P |
probably damaging |
Het |
| Xirp2 |
T |
G |
2: 67,346,511 (GRCm39) |
S2917R |
probably damaging |
Het |
| Zfp983 |
G |
A |
17: 21,876,528 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cops5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Cops5
|
APN |
1 |
10,104,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01759:Cops5
|
APN |
1 |
10,097,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02141:Cops5
|
APN |
1 |
10,105,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Cops5
|
UTSW |
1 |
10,104,243 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2055:Cops5
|
UTSW |
1 |
10,102,562 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4163:Cops5
|
UTSW |
1 |
10,100,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5945:Cops5
|
UTSW |
1 |
10,108,235 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6295:Cops5
|
UTSW |
1 |
10,100,920 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6419:Cops5
|
UTSW |
1 |
10,103,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6487:Cops5
|
UTSW |
1 |
10,108,004 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6817:Cops5
|
UTSW |
1 |
10,100,829 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7012:Cops5
|
UTSW |
1 |
10,100,890 (GRCm39) |
makesense |
probably null |
|
|
R9588:Cops5
|
UTSW |
1 |
10,108,222 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation