Incidental Mutation 'R4540:Cops3'
| ID |
333502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cops3
|
| Ensembl Gene |
ENSMUSG00000019373 |
| Gene Name |
COP9 signalosome subunit 3 |
| Synonyms |
COP9 complex S3, Csn3, Sgn3 |
| MMRRC Submission |
041776-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4540 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
59708621-59730664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59720980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 145
(L145H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019517]
[ENSMUST00000141415]
|
| AlphaFold |
O88543 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019517
AA Change: L145H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373
AA Change: L145H
| 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 benign
Transcript: ENSMUST00000141415
|
| Predicted Effect |
probably benign
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 |
|
| Meta Mutation Damage Score |
0.4914 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,508,119 (GRCm39) |
H164L |
probably damaging |
Het |
| Arrdc3 |
C |
A |
13: 81,038,790 (GRCm39) |
R31S |
possibly damaging |
Het |
| Baiap3 |
C |
T |
17: 25,465,644 (GRCm39) |
V585M |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,621,267 (GRCm39) |
S391P |
probably damaging |
Het |
| Ccdc51 |
T |
C |
9: 108,921,288 (GRCm39) |
F392L |
possibly damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,904,012 (GRCm39) |
I194T |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,094,992 (GRCm39) |
K806E |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,652,709 (GRCm39) |
E726G |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,890,815 (GRCm39) |
Y384C |
unknown |
Het |
| Cul9 |
C |
T |
17: 46,814,015 (GRCm39) |
M2286I |
probably null |
Het |
| Echdc1 |
G |
A |
10: 29,220,578 (GRCm39) |
V245I |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,782,009 (GRCm39) |
M261L |
probably benign |
Het |
| Gm4353 |
A |
G |
7: 115,683,212 (GRCm39) |
L123P |
probably benign |
Het |
| Hcfc2 |
G |
C |
10: 82,568,481 (GRCm39) |
E42Q |
probably benign |
Het |
| Hfm1 |
A |
C |
5: 107,022,087 (GRCm39) |
Y199* |
probably null |
Het |
| Iba57 |
G |
A |
11: 59,053,904 (GRCm39) |
|
probably benign |
Het |
| Ihh |
T |
A |
1: 74,987,558 (GRCm39) |
N161I |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,569,530 (GRCm39) |
S789P |
probably damaging |
Het |
| Kndc1 |
C |
A |
7: 139,501,343 (GRCm39) |
C877* |
probably null |
Het |
| Lhcgr |
A |
G |
17: 89,063,036 (GRCm39) |
I212T |
probably benign |
Het |
| Lrrtm2 |
T |
A |
18: 35,346,199 (GRCm39) |
T368S |
probably benign |
Het |
| Mag |
A |
C |
7: 30,600,154 (GRCm39) |
V500G |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,356,960 (GRCm39) |
V512A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,442,725 (GRCm39) |
C759Y |
possibly damaging |
Het |
| Nup107 |
T |
C |
10: 117,597,925 (GRCm39) |
|
probably null |
Het |
| Or4c3d |
T |
C |
2: 89,882,494 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or4f56 |
T |
C |
2: 111,703,546 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pcdha1 |
A |
C |
18: 37,064,680 (GRCm39) |
D448A |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,605,506 (GRCm39) |
|
probably null |
Het |
| Pth2r |
A |
G |
1: 65,321,360 (GRCm39) |
N13S |
probably benign |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
A |
G |
5: 30,461,085 (GRCm39) |
D107G |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,995,697 (GRCm39) |
P1779S |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,115,063 (GRCm39) |
E365G |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,922,309 (GRCm39) |
T2374I |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,726,997 (GRCm39) |
I1T |
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 |
|
R3790:Cops3
|
UTSW |
11 |
59,718,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GTGCATTTCTTCTACGGATACTGTG -3'
(R):5'- CACAGACATTTCCTGACATAGTATGG -3'
Sequencing Primer
(F):5'- ACGGATACTGTGTTTTTACTCTTAAG -3'
(R):5'- CATTTCCTGACATAGTATGGAAAGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation