Incidental Mutation 'IGL00788:Cops4'
| ID |
9844 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cops4
|
| Ensembl Gene |
ENSMUSG00000035297 |
| Gene Name |
COP9 signalosome subunit 4 |
| Synonyms |
D5Ertd774e, COP9 complex S4 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL00788
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
100666175-100695669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100681421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 152
(E152G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045993]
[ENSMUST00000123069]
[ENSMUST00000123492]
[ENSMUST00000146476]
[ENSMUST00000151414]
|
| AlphaFold |
O88544 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045993
AA Change: E203G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048416
Gene: ENSMUSG00000035297
AA Change: E203G
| Domain | Start | End | E-Value | Type |
|---|
|
PINT
|
295 |
377 |
2.09e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123069
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123492
AA Change: E118G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119737
Gene: ENSMUSG00000035297
AA Change: E118G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCI
|
179 |
251 |
7.2e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123559
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146476
AA Change: E152G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147729
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151414
AA Change: E152G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of eight subunits composing 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
|
| Allele List at MGI |
All alleles(8) : Targeted, other(2) Gene trapped(6) |
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
G |
5: 4,110,480 (GRCm39) |
E3061G |
probably damaging |
Het |
| Armh3 |
C |
T |
19: 45,920,789 (GRCm39) |
|
probably null |
Het |
| Casd1 |
A |
G |
6: 4,624,400 (GRCm39) |
T398A |
probably benign |
Het |
| Ceacam2 |
C |
T |
7: 25,237,998 (GRCm39) |
|
probably null |
Het |
| Chst9 |
A |
G |
18: 15,586,087 (GRCm39) |
Y159H |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,829,432 (GRCm39) |
|
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dpy19l1 |
A |
G |
9: 24,373,864 (GRCm39) |
|
probably benign |
Het |
| Gbp8 |
T |
A |
5: 105,198,863 (GRCm39) |
E17D |
probably benign |
Het |
| Grik5 |
G |
A |
7: 24,764,818 (GRCm39) |
H108Y |
probably damaging |
Het |
| Gsap |
G |
A |
5: 21,426,303 (GRCm39) |
|
probably benign |
Het |
| Gsap |
G |
A |
5: 21,459,022 (GRCm39) |
V496M |
probably damaging |
Het |
| Hectd1 |
C |
T |
12: 51,795,571 (GRCm39) |
S2286N |
probably damaging |
Het |
| Hgf |
A |
T |
5: 16,803,228 (GRCm39) |
Q380L |
probably damaging |
Het |
| Hsd11b1 |
C |
T |
1: 192,923,766 (GRCm39) |
M1I |
probably null |
Het |
| Kank2 |
A |
G |
9: 21,691,775 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
G |
A |
16: 19,775,812 (GRCm39) |
L249F |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,234,992 (GRCm39) |
M846L |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 142,052,069 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
A |
T |
1: 162,852,227 (GRCm39) |
S821T |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,076,241 (GRCm39) |
T819A |
probably benign |
Het |
| Neb |
A |
T |
2: 52,095,744 (GRCm39) |
|
probably benign |
Het |
| Pcyt1b |
T |
C |
X: 92,778,515 (GRCm39) |
F255L |
probably benign |
Het |
| Rttn |
T |
A |
18: 88,990,633 (GRCm39) |
S57T |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,837,114 (GRCm39) |
D121G |
probably damaging |
Het |
| Slc25a21 |
A |
T |
12: 56,760,597 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,325,487 (GRCm39) |
|
probably benign |
Het |
| Spats2l |
T |
A |
1: 57,924,864 (GRCm39) |
N87K |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,918,673 (GRCm39) |
D99G |
probably damaging |
Het |
| Sytl2 |
T |
A |
7: 90,031,906 (GRCm39) |
|
probably benign |
Het |
| Trim13 |
T |
C |
14: 61,843,119 (GRCm39) |
F379L |
probably benign |
Het |
|
| Other mutations in Cops4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02152:Cops4
|
APN |
5 |
100,681,456 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0011:Cops4
|
UTSW |
5 |
100,675,847 (GRCm39) |
missense |
probably benign |
|
|
R0011:Cops4
|
UTSW |
5 |
100,675,847 (GRCm39) |
missense |
probably benign |
|
|
R0326:Cops4
|
UTSW |
5 |
100,676,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0494:Cops4
|
UTSW |
5 |
100,676,528 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0639:Cops4
|
UTSW |
5 |
100,685,326 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1162:Cops4
|
UTSW |
5 |
100,678,023 (GRCm39) |
splice site |
probably benign |
|
|
R1400:Cops4
|
UTSW |
5 |
100,681,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4209:Cops4
|
UTSW |
5 |
100,695,352 (GRCm39) |
unclassified |
probably benign |
|
|
R4943:Cops4
|
UTSW |
5 |
100,695,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5244:Cops4
|
UTSW |
5 |
100,681,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5350:Cops4
|
UTSW |
5 |
100,666,405 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5855:Cops4
|
UTSW |
5 |
100,695,280 (GRCm39) |
missense |
probably benign |
|
|
R6010:Cops4
|
UTSW |
5 |
100,691,776 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6026:Cops4
|
UTSW |
5 |
100,690,194 (GRCm39) |
unclassified |
probably benign |
|
|
R7390:Cops4
|
UTSW |
5 |
100,691,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation