Incidental Mutation 'R6442:Cops3'
| ID |
519067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cops3
|
| Ensembl Gene |
ENSMUSG00000019373 |
| Gene Name |
COP9 signalosome subunit 3 |
| Synonyms |
COP9 complex S3, Csn3, Sgn3 |
| MMRRC Submission |
044580-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
59708621-59730664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59718780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 171
(K171N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019517]
|
| AlphaFold |
O88543 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019517
AA Change: K171N
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373
AA Change: K171N
| 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: K93N
|
| SMART Domains |
Protein: ENSMUSP00000117288
Gene: ENSMUSG00000019373
AA Change: K93N
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ihga1
|
55 |
132 |
6e-4 |
SMART |
|
Blast:PINT
|
216 |
244 |
4e-10 |
BLAST |
|
| Meta Mutation Damage Score |
0.0598 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,491,481 (GRCm39) |
T695A |
probably benign |
Het |
| Btla |
A |
G |
16: 45,044,821 (GRCm39) |
N36D |
probably benign |
Het |
| Btla |
T |
C |
16: 45,070,713 (GRCm39) |
V224A |
possibly damaging |
Het |
| Cep126 |
T |
C |
9: 8,100,564 (GRCm39) |
N657D |
probably benign |
Het |
| Crocc2 |
A |
G |
1: 93,112,775 (GRCm39) |
R193G |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,214,837 (GRCm39) |
I911V |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,923,507 (GRCm39) |
|
probably null |
Het |
| Efcab5 |
A |
T |
11: 76,996,260 (GRCm39) |
Y1100* |
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,843,611 (GRCm39) |
T833I |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,656,448 (GRCm39) |
T211A |
probably benign |
Het |
| Gdf9 |
A |
G |
11: 53,324,515 (GRCm39) |
T95A |
probably benign |
Het |
| Gm826 |
T |
A |
2: 160,169,328 (GRCm39) |
|
probably benign |
Het |
| Hsd17b6 |
C |
T |
10: 127,829,636 (GRCm39) |
|
probably null |
Het |
| Hyal4 |
A |
G |
6: 24,765,849 (GRCm39) |
N401S |
probably benign |
Het |
| Itga8 |
C |
T |
2: 12,234,954 (GRCm39) |
V435I |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,848,427 (GRCm39) |
P418L |
probably damaging |
Het |
| Or3a4 |
G |
A |
11: 73,945,505 (GRCm39) |
R27W |
probably benign |
Het |
| Or4f15 |
G |
A |
2: 111,813,874 (GRCm39) |
P182S |
probably damaging |
Het |
| Or4n4 |
T |
G |
14: 50,518,826 (GRCm39) |
K295Q |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,992 (GRCm39) |
|
probably benign |
Het |
| Prdm11 |
G |
A |
2: 92,805,990 (GRCm39) |
A320V |
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,732,831 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
A |
5: 22,137,774 (GRCm39) |
I2473L |
probably benign |
Het |
| Rmnd5a |
A |
T |
6: 71,371,659 (GRCm39) |
C180* |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sapcd2 |
T |
A |
2: 25,266,134 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,790,350 (GRCm39) |
L462S |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,686,555 (GRCm39) |
Y425F |
possibly damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,604,760 (GRCm39) |
Y727* |
probably null |
Het |
| Tmem80 |
T |
C |
7: 140,915,839 (GRCm39) |
V83A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,551,978 (GRCm39) |
T31220A |
probably benign |
Het |
| Usp46 |
A |
T |
5: 74,177,377 (GRCm39) |
D167E |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,805,046 (GRCm39) |
D22V |
possibly damaging |
Het |
| Zswim5 |
C |
A |
4: 116,808,202 (GRCm39) |
P262Q |
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 |
|
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 |
|
|
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'- ACTCGCTGACTGTTTGGATCAC -3'
(R):5'- TAACCCTAGATGGCTAAGAAAATGG -3'
Sequencing Primer
(F):5'- CGCTGACTGTTTGGATCACACAAG -3'
(R):5'- AAACTTGCCATAGTGAAATG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation