Incidental Mutation 'R3790:Cops3'
| ID |
272500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cops3
|
| Ensembl Gene |
ENSMUSG00000019373 |
| Gene Name |
COP9 signalosome subunit 3 |
| Synonyms |
COP9 complex S3, Csn3, Sgn3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3790 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
59708621-59730664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59718797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 166
(M166V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019517]
|
| AlphaFold |
O88543 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019517
AA Change: M166V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373
AA Change: M166V
| Domain | Start | End | E-Value | Type |
|---|
|
PINT
|
293 |
383 |
1.16e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130027
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136901
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156837
AA Change: M88V
|
| SMART Domains |
Protein: ENSMUSP00000117288
Gene: ENSMUSG00000019373
AA Change: M88V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ihga1
|
55 |
132 |
6e-4 |
SMART |
|
Blast:PINT
|
216 |
244 |
4e-10 |
BLAST |
|
| Meta Mutation Damage Score |
0.0746 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality with defects in developmental patterning and failure of the inner cell mass to proliferate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
G |
A |
17: 13,147,460 (GRCm39) |
Q186* |
probably null |
Het |
| Alk |
A |
G |
17: 72,910,427 (GRCm39) |
L93P |
possibly damaging |
Het |
| Ankrd24 |
C |
T |
10: 81,478,513 (GRCm39) |
|
probably benign |
Het |
| Anks6 |
A |
T |
4: 47,049,212 (GRCm39) |
V231E |
probably damaging |
Het |
| Ap5z1 |
C |
T |
5: 142,456,168 (GRCm39) |
S329L |
probably benign |
Het |
| Asic4 |
C |
A |
1: 75,446,485 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
T |
G |
19: 21,784,816 (GRCm39) |
I433S |
probably damaging |
Het |
| Cers4 |
C |
A |
8: 4,568,285 (GRCm39) |
Q113K |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,813,520 (GRCm39) |
I264F |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,592,641 (GRCm39) |
Q184R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Gm53 |
T |
C |
11: 96,142,477 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
G |
1: 150,498,745 (GRCm39) |
S4045P |
probably benign |
Het |
| Kif22 |
A |
G |
7: 126,628,668 (GRCm39) |
L480P |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,648,111 (GRCm39) |
|
probably benign |
Het |
| Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
| Lnx1 |
A |
G |
5: 74,789,027 (GRCm39) |
|
probably benign |
Het |
| Lrsam1 |
T |
C |
2: 32,848,171 (GRCm39) |
E43G |
probably null |
Het |
| Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
| Nbea |
T |
A |
3: 55,912,450 (GRCm39) |
E1112D |
probably benign |
Het |
| Nepn |
T |
A |
10: 52,276,626 (GRCm39) |
L60I |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,933,475 (GRCm39) |
E30G |
probably damaging |
Het |
| Or4c122 |
A |
G |
2: 89,079,337 (GRCm39) |
F234L |
probably benign |
Het |
| Or4k5 |
A |
C |
14: 50,386,026 (GRCm39) |
F102V |
possibly damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,688,110 (GRCm39) |
I236N |
probably damaging |
Het |
| Psg23 |
C |
A |
7: 18,346,126 (GRCm39) |
V190L |
probably benign |
Het |
| Psg29 |
A |
G |
7: 16,938,950 (GRCm39) |
K75E |
possibly damaging |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Rgs4 |
A |
G |
1: 169,571,991 (GRCm39) |
S103P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,747 (GRCm39) |
Y1144C |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,907,001 (GRCm39) |
|
probably benign |
Het |
| Snrnp35 |
T |
A |
5: 124,628,248 (GRCm39) |
D20E |
probably damaging |
Het |
| Syce1l |
C |
A |
8: 114,369,897 (GRCm39) |
A10E |
possibly damaging |
Het |
| Tdp1 |
A |
G |
12: 99,858,011 (GRCm39) |
|
probably benign |
Het |
| Tmem212 |
T |
C |
3: 27,940,594 (GRCm39) |
|
probably null |
Het |
| Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,568,471 (GRCm39) |
C27474F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,218,310 (GRCm39) |
V48A |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,994,185 (GRCm39) |
|
probably null |
Het |
| Washc2 |
A |
G |
6: 116,224,933 (GRCm39) |
|
probably benign |
Het |
| Zfp943 |
A |
G |
17: 22,211,403 (GRCm39) |
D163G |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,031,230 (GRCm39) |
Y626C |
probably damaging |
Het |
|
| Other mutations in Cops3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01957:Cops3
|
APN |
11 |
59,712,217 (GRCm39) |
splice site |
probably benign |
|
|
IGL02622:Cops3
|
APN |
11 |
59,723,864 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02657:Cops3
|
APN |
11 |
59,721,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03271:Cops3
|
APN |
11 |
59,723,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03400:Cops3
|
APN |
11 |
59,708,914 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0449:Cops3
|
UTSW |
11 |
59,709,243 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0699:Cops3
|
UTSW |
11 |
59,717,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Cops3
|
UTSW |
11 |
59,718,715 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1894:Cops3
|
UTSW |
11 |
59,710,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2077:Cops3
|
UTSW |
11 |
59,715,136 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2265:Cops3
|
UTSW |
11 |
59,718,716 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4540:Cops3
|
UTSW |
11 |
59,720,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4548:Cops3
|
UTSW |
11 |
59,718,671 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4930:Cops3
|
UTSW |
11 |
59,726,193 (GRCm39) |
intron |
probably benign |
|
|
R5028:Cops3
|
UTSW |
11 |
59,708,856 (GRCm39) |
unclassified |
probably benign |
|
|
R5150:Cops3
|
UTSW |
11 |
59,710,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5319:Cops3
|
UTSW |
11 |
59,718,762 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5436:Cops3
|
UTSW |
11 |
59,715,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5789:Cops3
|
UTSW |
11 |
59,721,106 (GRCm39) |
intron |
probably benign |
|
|
R6211:Cops3
|
UTSW |
11 |
59,708,727 (GRCm39) |
unclassified |
probably benign |
|
|
R6364:Cops3
|
UTSW |
11 |
59,726,230 (GRCm39) |
intron |
probably benign |
|
|
R6442:Cops3
|
UTSW |
11 |
59,718,780 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6479:Cops3
|
UTSW |
11 |
59,723,898 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6622:Cops3
|
UTSW |
11 |
59,723,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8698:Cops3
|
UTSW |
11 |
59,708,886 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8803:Cops3
|
UTSW |
11 |
59,718,802 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTCGCTGACTGTTTGGATC -3'
(R):5'- TAACCCTAGATGGCTAAGAAAATGG -3'
Sequencing Primer
(F):5'- CGCTGACTGTTTGGATCACACAAG -3'
(R):5'- TCATCTGTGAAACAAAACAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation