Incidental Mutation 'R0011:Cops4'
ID |
8137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cops4
|
Ensembl Gene |
ENSMUSG00000035297 |
Gene Name |
COP9 signalosome subunit 4 |
Synonyms |
D5Ertd774e, COP9 complex S4 |
MMRRC Submission |
038306-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R0011 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
100666175-100695669 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 100675847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 28
(Q28K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048416
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045993]
[ENSMUST00000123069]
[ENSMUST00000123492]
[ENSMUST00000146476]
[ENSMUST00000151414]
|
AlphaFold |
O88544 |
PDB Structure |
Solution structure of the PCI domain [SOLUTION NMR]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000045993
AA Change: Q28K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000048416 Gene: ENSMUSG00000035297 AA Change: Q28K
Domain | Start | End | E-Value | Type |
PINT
|
295 |
377 |
2.09e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123069
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123492
|
SMART Domains |
Protein: ENSMUSP00000119737 Gene: ENSMUSG00000035297
Domain | Start | End | E-Value | Type |
Pfam:PCI
|
179 |
251 |
7.2e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123559
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146476
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147729
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151414
|
Meta Mutation Damage Score |
0.0610 |
Coding Region Coverage |
- 1x: 78.3%
- 3x: 67.8%
- 10x: 41.6%
- 20x: 22.3%
|
Validation Efficiency |
92% (85/92) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
A |
G |
10: 69,815,281 (GRCm39) |
|
probably benign |
Het |
Art3 |
T |
A |
5: 92,551,471 (GRCm39) |
Y17N |
probably damaging |
Het |
Asic3 |
C |
T |
5: 24,622,490 (GRCm39) |
|
probably benign |
Het |
Brip1 |
C |
A |
11: 86,077,824 (GRCm39) |
K201N |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,324,364 (GRCm39) |
F6S |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,831,722 (GRCm39) |
L389Q |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,901,087 (GRCm39) |
C156S |
probably damaging |
Het |
Chia1 |
A |
G |
3: 106,038,290 (GRCm39) |
|
probably benign |
Het |
Dnai7 |
T |
A |
6: 145,124,781 (GRCm39) |
M515L |
probably damaging |
Het |
Epha7 |
G |
A |
4: 28,962,564 (GRCm39) |
D961N |
probably benign |
Het |
Grin2c |
T |
C |
11: 115,146,576 (GRCm39) |
Y476C |
probably damaging |
Het |
Ift70a2 |
T |
A |
2: 75,806,561 (GRCm39) |
R650S |
probably damaging |
Het |
Igf2bp1 |
T |
C |
11: 95,896,410 (GRCm39) |
D17G |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,049,351 (GRCm39) |
V322E |
probably damaging |
Het |
Krt35 |
T |
A |
11: 99,984,502 (GRCm39) |
Q331L |
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
Msh2 |
T |
C |
17: 87,987,521 (GRCm39) |
|
probably benign |
Het |
Ncoa1 |
A |
C |
12: 4,372,896 (GRCm39) |
F57L |
possibly damaging |
Het |
Npy4r |
C |
T |
14: 33,868,680 (GRCm39) |
V203M |
probably damaging |
Het |
Pcdhgb8 |
T |
C |
18: 37,897,335 (GRCm39) |
S802P |
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,833,048 (GRCm39) |
S152P |
probably damaging |
Het |
Rasgef1b |
T |
C |
5: 99,380,213 (GRCm39) |
Y344C |
probably damaging |
Het |
Rdh19 |
T |
A |
10: 127,692,780 (GRCm39) |
L149Q |
probably damaging |
Het |
Shtn1 |
A |
G |
19: 59,020,650 (GRCm39) |
S191P |
possibly damaging |
Het |
Tmem202 |
T |
A |
9: 59,432,084 (GRCm39) |
N81I |
probably benign |
Het |
Trim58 |
A |
T |
11: 58,533,946 (GRCm39) |
T167S |
probably benign |
Het |
Trp53i11 |
A |
T |
2: 93,029,698 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,640,699 (GRCm39) |
H5356R |
probably damaging |
Het |
Tyrp1 |
C |
T |
4: 80,759,030 (GRCm39) |
T301I |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
Wscd1 |
T |
C |
11: 71,679,654 (GRCm39) |
V509A |
probably damaging |
Het |
Zfp251 |
A |
G |
15: 76,738,754 (GRCm39) |
V108A |
probably benign |
Het |
|
Other mutations in Cops4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00788:Cops4
|
APN |
5 |
100,681,421 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02152:Cops4
|
APN |
5 |
100,681,456 (GRCm39) |
missense |
probably benign |
0.20 |
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 |
2012-11-20 |