Incidental Mutation 'R5150:Cops3'
ID |
395311 |
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 # |
R5150 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
59708621-59730664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 59710839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 377
(D377Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019517
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019517]
|
AlphaFold |
O88543 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019517
AA Change: D377Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000019517 Gene: ENSMUSG00000019373 AA Change: D377Y
Domain | Start | End | E-Value | Type |
PINT
|
293 |
383 |
1.16e-23 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124101
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126489
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136901
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151825
|
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 |
0.3568 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
93% (57/61) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam33 |
T |
C |
2: 130,895,117 (GRCm39) |
|
probably benign |
Het |
Ahnak |
T |
C |
19: 8,988,268 (GRCm39) |
V3184A |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,084 (GRCm39) |
N320S |
possibly damaging |
Het |
Bin2 |
T |
C |
15: 100,543,244 (GRCm39) |
E313G |
probably damaging |
Het |
Brd10 |
C |
A |
19: 29,782,950 (GRCm39) |
A109S |
probably damaging |
Het |
C9orf72 |
A |
G |
4: 35,193,270 (GRCm39) |
S228P |
possibly damaging |
Het |
Ccdc47 |
T |
C |
11: 106,096,265 (GRCm39) |
D253G |
possibly damaging |
Het |
Ccdc73 |
A |
G |
2: 104,822,384 (GRCm39) |
T778A |
probably benign |
Het |
Cyp4a14 |
A |
C |
4: 115,350,806 (GRCm39) |
V156G |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Disp1 |
C |
A |
1: 182,871,063 (GRCm39) |
M452I |
probably damaging |
Het |
Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
Fbxo45 |
C |
A |
16: 32,065,524 (GRCm39) |
|
probably benign |
Het |
Flrt2 |
T |
A |
12: 95,745,977 (GRCm39) |
M105K |
possibly damaging |
Het |
Gm26558 |
G |
A |
2: 70,491,656 (GRCm39) |
|
probably benign |
Het |
Gpr83 |
T |
G |
9: 14,772,101 (GRCm39) |
L91R |
probably damaging |
Het |
Greb1l |
TTTAATAACTT |
TTT |
18: 10,555,950 (GRCm39) |
|
probably null |
Het |
Hmces |
T |
A |
6: 87,910,217 (GRCm39) |
|
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Ksr2 |
A |
C |
5: 117,693,074 (GRCm39) |
E174A |
probably damaging |
Het |
Lats1 |
A |
G |
10: 7,588,415 (GRCm39) |
T1011A |
probably benign |
Het |
Lrrc46 |
T |
C |
11: 96,926,957 (GRCm39) |
D120G |
probably damaging |
Het |
Ncstn |
C |
A |
1: 171,895,151 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,059,130 (GRCm39) |
T6118A |
probably benign |
Het |
Nipsnap2 |
A |
C |
5: 129,834,175 (GRCm39) |
M272L |
probably benign |
Het |
Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
Or13c7c |
A |
G |
4: 43,836,301 (GRCm39) |
L63P |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or4f15 |
T |
A |
2: 111,814,366 (GRCm39) |
T18S |
probably benign |
Het |
Or4f61 |
T |
A |
2: 111,922,880 (GRCm39) |
L55F |
possibly damaging |
Het |
Or4g17 |
T |
A |
2: 111,209,598 (GRCm39) |
D84E |
probably damaging |
Het |
Or5b118 |
A |
T |
19: 13,448,794 (GRCm39) |
Q153H |
probably benign |
Het |
Pold1 |
A |
G |
7: 44,185,256 (GRCm39) |
V750A |
possibly damaging |
Het |
Prdm11 |
C |
T |
2: 92,805,817 (GRCm39) |
E378K |
probably damaging |
Het |
Ptpn9 |
A |
G |
9: 56,943,954 (GRCm39) |
D276G |
probably benign |
Het |
Rlf |
A |
T |
4: 121,005,369 (GRCm39) |
F1204I |
probably damaging |
Het |
Robo1 |
C |
A |
16: 72,769,192 (GRCm39) |
T537K |
possibly damaging |
Het |
Sec31b |
T |
A |
19: 44,508,970 (GRCm39) |
M670L |
probably benign |
Het |
Sephs1 |
T |
A |
2: 4,904,321 (GRCm39) |
V233E |
possibly damaging |
Het |
Serpinb2 |
T |
C |
1: 107,450,939 (GRCm39) |
|
probably null |
Het |
Sf3b3 |
T |
C |
8: 111,550,008 (GRCm39) |
Q670R |
possibly damaging |
Het |
Slc8a2 |
A |
C |
7: 15,879,101 (GRCm39) |
D529A |
possibly damaging |
Het |
Sva |
A |
G |
6: 42,019,093 (GRCm39) |
N88D |
probably benign |
Het |
Tcf15 |
G |
T |
2: 151,986,051 (GRCm39) |
R169L |
probably damaging |
Het |
Tfr2 |
A |
G |
5: 137,572,752 (GRCm39) |
T188A |
probably benign |
Het |
Tshz1 |
T |
A |
18: 84,031,340 (GRCm39) |
K1023* |
probably null |
Het |
Ttc28 |
A |
G |
5: 111,373,555 (GRCm39) |
N966S |
probably damaging |
Het |
Unc5c |
T |
A |
3: 141,463,554 (GRCm39) |
I225N |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,184,067 (GRCm39) |
L1457S |
possibly damaging |
Het |
Zbtb34 |
G |
T |
2: 33,301,133 (GRCm39) |
H469Q |
probably damaging |
Het |
Zfp692 |
T |
C |
11: 58,198,413 (GRCm39) |
M1T |
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 |
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 |
|
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'- TGGCAGTTGTGGTAAAGCAC -3'
(R):5'- ATCCACCCACTTTATGTTCAGG -3'
Sequencing Primer
(F):5'- ACTACATCCTTTGAATGGCTTTGGAG -3'
(R):5'- TCAGGTCTAAATTTTCATGGTTTCC -3'
|
Posted On |
2016-06-21 |