Incidental Mutation 'IGL02141:Cops5'
ID |
281554 |
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 # |
IGL02141
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
10094825-10108384 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 10105342 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 47
(K47E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027050]
[ENSMUST00000071087]
[ENSMUST00000117415]
[ENSMUST00000118263]
[ENSMUST00000119714]
[ENSMUST00000122156]
[ENSMUST00000188619]
[ENSMUST00000191012]
[ENSMUST00000186528]
|
AlphaFold |
O35864 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027050
AA Change: K64E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027050 Gene: ENSMUSG00000025917 AA Change: K64E
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 |
probably benign
Transcript: ENSMUST00000071087
|
SMART Domains |
Protein: ENSMUSP00000068804 Gene: ENSMUSG00000056763
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
low complexity region
|
270 |
285 |
N/A |
INTRINSIC |
coiled coil region
|
349 |
383 |
N/A |
INTRINSIC |
low complexity region
|
426 |
447 |
N/A |
INTRINSIC |
low complexity region
|
465 |
484 |
N/A |
INTRINSIC |
coiled coil region
|
568 |
610 |
N/A |
INTRINSIC |
Pfam:CCDC66
|
661 |
810 |
2e-11 |
PFAM |
coiled coil region
|
866 |
903 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117415
|
SMART Domains |
Protein: ENSMUSP00000112800 Gene: ENSMUSG00000056763
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
low complexity region
|
270 |
285 |
N/A |
INTRINSIC |
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118263
|
SMART Domains |
Protein: ENSMUSP00000112476 Gene: ENSMUSG00000056763
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
low complexity region
|
270 |
285 |
N/A |
INTRINSIC |
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119714
|
SMART Domains |
Protein: ENSMUSP00000114091 Gene: ENSMUSG00000056763
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
low complexity region
|
270 |
285 |
N/A |
INTRINSIC |
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122156
|
SMART Domains |
Protein: ENSMUSP00000113663 Gene: ENSMUSG00000056763
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
low complexity region
|
278 |
293 |
N/A |
INTRINSIC |
low complexity region
|
303 |
314 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188619
AA Change: K47E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140115 Gene: ENSMUSG00000025917 AA Change: K47E
Domain | Start | End | E-Value | Type |
JAB_MPN
|
37 |
174 |
5.3e-55 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000190155
AA Change: K4E
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143606
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134716
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190610
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191360
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190063
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139578
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150509
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191296
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191012
|
SMART Domains |
Protein: ENSMUSP00000140856 Gene: ENSMUSG00000056763
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186528
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191521
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
C |
T |
5: 146,120,275 (GRCm39) |
A188T |
probably benign |
Het |
2310022B05Rik |
A |
T |
8: 125,364,645 (GRCm39) |
|
probably benign |
Het |
Atf6b |
C |
A |
17: 34,872,251 (GRCm39) |
H539Q |
probably benign |
Het |
Bmal2 |
T |
A |
6: 146,729,593 (GRCm39) |
|
probably benign |
Het |
Bpifb5 |
G |
T |
2: 154,071,477 (GRCm39) |
|
probably null |
Het |
Cep89 |
T |
A |
7: 35,120,349 (GRCm39) |
M377K |
probably damaging |
Het |
Clpx |
G |
T |
9: 65,219,400 (GRCm39) |
|
probably null |
Het |
Cryba2 |
T |
C |
1: 74,931,943 (GRCm39) |
N35S |
probably benign |
Het |
Ddx27 |
A |
G |
2: 166,862,443 (GRCm39) |
K162E |
possibly damaging |
Het |
Dhx36 |
A |
G |
3: 62,401,310 (GRCm39) |
S319P |
probably benign |
Het |
Dram2 |
A |
G |
3: 106,479,012 (GRCm39) |
|
probably benign |
Het |
Eci2 |
T |
A |
13: 35,162,656 (GRCm39) |
T300S |
probably benign |
Het |
Egf |
C |
A |
3: 129,533,631 (GRCm39) |
G70* |
probably null |
Het |
Eif5b |
T |
C |
1: 38,071,403 (GRCm39) |
V444A |
probably benign |
Het |
Elf3 |
T |
C |
1: 135,185,445 (GRCm39) |
D23G |
possibly damaging |
Het |
Epb41l4b |
A |
T |
4: 57,103,422 (GRCm39) |
|
probably null |
Het |
Fam167a |
T |
A |
14: 63,689,708 (GRCm39) |
S2T |
probably benign |
Het |
Flrt3 |
A |
G |
2: 140,502,608 (GRCm39) |
V340A |
probably damaging |
Het |
Gimap3 |
T |
C |
6: 48,742,312 (GRCm39) |
E206G |
probably benign |
Het |
Gp6 |
T |
C |
7: 4,397,103 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,788,101 (GRCm39) |
M581L |
probably damaging |
Het |
Hapln3 |
A |
G |
7: 78,767,893 (GRCm39) |
V167A |
probably damaging |
Het |
Hnrnpll |
G |
A |
17: 80,358,142 (GRCm39) |
T203I |
probably benign |
Het |
Ighv3-6 |
A |
G |
12: 114,251,982 (GRCm39) |
I47T |
probably damaging |
Het |
Iqgap1 |
G |
A |
7: 80,387,869 (GRCm39) |
T926M |
probably damaging |
Het |
Lonp1 |
A |
T |
17: 56,922,086 (GRCm39) |
S765T |
probably benign |
Het |
Lpp |
C |
T |
16: 24,580,365 (GRCm39) |
S27F |
probably damaging |
Het |
Lrit2 |
T |
C |
14: 36,790,031 (GRCm39) |
|
probably benign |
Het |
Luc7l |
C |
A |
17: 26,472,054 (GRCm39) |
T17K |
probably damaging |
Het |
Mmut |
A |
G |
17: 41,249,708 (GRCm39) |
T228A |
possibly damaging |
Het |
Mroh1 |
G |
T |
15: 76,330,799 (GRCm39) |
S1161I |
possibly damaging |
Het |
Muc5b |
T |
G |
7: 141,407,104 (GRCm39) |
C1091G |
unknown |
Het |
Nppb |
A |
T |
4: 148,070,463 (GRCm39) |
I11F |
probably benign |
Het |
Nsf |
A |
T |
11: 103,719,351 (GRCm39) |
D650E |
probably benign |
Het |
Ogdh |
A |
G |
11: 6,305,015 (GRCm39) |
K907E |
probably damaging |
Het |
Or1b1 |
G |
A |
2: 36,995,437 (GRCm39) |
S75F |
probably benign |
Het |
Or1j15 |
A |
G |
2: 36,458,820 (GRCm39) |
D70G |
probably damaging |
Het |
Or7a35 |
A |
G |
10: 78,853,555 (GRCm39) |
Y133C |
probably damaging |
Het |
Pcnx1 |
A |
T |
12: 81,907,156 (GRCm39) |
Q4L |
possibly damaging |
Het |
Pgc |
T |
A |
17: 48,037,856 (GRCm39) |
L9H |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,285,556 (GRCm39) |
S887T |
probably benign |
Het |
Plec |
T |
C |
15: 76,059,815 (GRCm39) |
D3239G |
probably damaging |
Het |
Pole4 |
T |
C |
6: 82,625,015 (GRCm39) |
T116A |
probably benign |
Het |
Potegl |
T |
C |
2: 23,120,212 (GRCm39) |
F203L |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,381,498 (GRCm39) |
N300D |
possibly damaging |
Het |
Rara |
T |
A |
11: 98,858,907 (GRCm39) |
Y119N |
probably damaging |
Het |
Rbck1 |
G |
T |
2: 152,160,294 (GRCm39) |
R462S |
possibly damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Slfn2 |
C |
A |
11: 82,960,670 (GRCm39) |
N216K |
probably benign |
Het |
Suox |
A |
G |
10: 128,507,967 (GRCm39) |
|
probably benign |
Het |
Tars1 |
T |
A |
15: 11,391,280 (GRCm39) |
Y283F |
probably damaging |
Het |
Trpm4 |
A |
T |
7: 44,967,603 (GRCm39) |
|
probably null |
Het |
Ubtd2 |
A |
T |
11: 32,449,262 (GRCm39) |
K36N |
probably benign |
Het |
Unkl |
T |
C |
17: 25,448,408 (GRCm39) |
L327P |
probably damaging |
Het |
Vmn1r11 |
T |
A |
6: 57,114,364 (GRCm39) |
Y9* |
probably null |
Het |
Vps13b |
T |
C |
15: 35,572,227 (GRCm39) |
V948A |
probably benign |
Het |
Zbtb17 |
A |
G |
4: 141,192,264 (GRCm39) |
H403R |
probably damaging |
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 |
IGL02492:Cops5
|
APN |
1 |
10,097,377 (GRCm39) |
missense |
probably benign |
|
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 |