Incidental Mutation 'R4548:Cops3'
| ID |
333872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cops3
|
| Ensembl Gene |
ENSMUSG00000019373 |
| Gene Name |
COP9 signalosome subunit 3 |
| Synonyms |
COP9 complex S3, Csn3, Sgn3 |
| MMRRC Submission |
041594-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4548 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
59708621-59730664 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 59718671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019517]
|
| AlphaFold |
O88543 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019517
|
| SMART Domains |
Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373
| 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 |
probably null
Transcript: ENSMUST00000156837
|
| SMART Domains |
Protein: ENSMUSP00000117288
Gene: ENSMUSG00000019373
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ihga1
|
55 |
132 |
6e-4 |
SMART |
|
Blast:PINT
|
216 |
244 |
4e-10 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156837
|
| SMART Domains |
Protein: ENSMUSP00000117288
Gene: ENSMUSG00000019373
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ihga1
|
55 |
132 |
6e-4 |
SMART |
|
Blast:PINT
|
216 |
244 |
4e-10 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,553,245 (GRCm39) |
F155L |
possibly damaging |
Het |
| Adcy6 |
A |
G |
15: 98,496,540 (GRCm39) |
I545T |
probably damaging |
Het |
| Afg2a |
T |
A |
3: 37,486,176 (GRCm39) |
N299K |
probably benign |
Het |
| Akip1 |
C |
A |
7: 109,304,193 (GRCm39) |
S90* |
probably null |
Het |
| Anln |
T |
C |
9: 22,274,184 (GRCm39) |
D551G |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,580,336 (GRCm39) |
Q204R |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bcl2l11 |
A |
G |
2: 127,971,566 (GRCm39) |
E75G |
probably benign |
Het |
| Cfap45 |
A |
G |
1: 172,372,675 (GRCm39) |
I457V |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
| Cntln |
C |
A |
4: 85,015,079 (GRCm39) |
H1123Q |
probably benign |
Het |
| Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,058,074 (GRCm39) |
N281S |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fras1 |
A |
G |
5: 96,857,754 (GRCm39) |
D2016G |
probably benign |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,676 (GRCm39) |
D1050G |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,899,875 (GRCm39) |
F48S |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
| Myzap |
T |
C |
9: 71,457,528 (GRCm39) |
E289G |
possibly damaging |
Het |
| Nemp1 |
A |
G |
10: 127,532,213 (GRCm39) |
E373G |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,854,834 (GRCm39) |
I175N |
probably damaging |
Het |
| Or8h10 |
T |
C |
2: 86,809,014 (GRCm39) |
N42S |
probably damaging |
Het |
| Polr1c |
A |
T |
17: 46,558,735 (GRCm39) |
|
probably null |
Het |
| Rev1 |
A |
G |
1: 38,098,275 (GRCm39) |
M756T |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,429,387 (GRCm39) |
D482G |
probably damaging |
Het |
| Sfrp4 |
A |
G |
13: 19,807,936 (GRCm39) |
M112V |
possibly damaging |
Het |
| Slc7a4 |
T |
C |
16: 17,393,209 (GRCm39) |
T197A |
probably benign |
Het |
| Snx27 |
C |
T |
3: 94,433,746 (GRCm39) |
|
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
| Ssh2 |
G |
A |
11: 77,341,010 (GRCm39) |
A721T |
probably benign |
Het |
| Trappc3 |
A |
G |
4: 126,166,544 (GRCm39) |
D39G |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,419,090 (GRCm39) |
S1362N |
possibly damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,156,134 (GRCm39) |
K409* |
probably null |
Het |
| Vmn2r92 |
A |
T |
17: 18,391,578 (GRCm39) |
M527L |
probably benign |
Het |
| Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
probably null |
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 |
|
R3790:Cops3
|
UTSW |
11 |
59,718,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4540:Cops3
|
UTSW |
11 |
59,720,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGTATTTAACCCAGGACCCTG -3'
(R):5'- GCGAAGTGCTTTAAACCTGC -3'
Sequencing Primer
(F):5'- GTATTTAACCCAGGACCCTGAACAAG -3'
(R):5'- GAAGTGCTTTAAACCTGCCCTTC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation