Incidental Mutation 'R6622:Cops3'
| ID |
524546 |
| 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 # |
R6622 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
59708621-59730664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59723960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 93
(F93L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019517]
[ENSMUST00000141415]
|
| AlphaFold |
O88543 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019517
AA Change: F66L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373
AA Change: F66L
| 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: ENSMUST00000133652
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136901
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141415
AA Change: F93L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156837
AA Change: F19L
|
| SMART Domains |
Protein: ENSMUSP00000117288
Gene: ENSMUSG00000019373
AA Change: F19L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ihga1
|
55 |
132 |
6e-4 |
SMART |
|
Blast:PINT
|
216 |
244 |
4e-10 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
C |
5: 81,942,606 (GRCm39) |
D1412A |
probably benign |
Het |
| Arhgap26 |
A |
G |
18: 39,032,916 (GRCm39) |
|
probably benign |
Het |
| Card14 |
A |
G |
11: 119,224,814 (GRCm39) |
M614V |
probably benign |
Het |
| Cbx2 |
A |
G |
11: 118,919,961 (GRCm39) |
T509A |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,788,815 (GRCm39) |
D1136G |
probably benign |
Het |
| Cep170 |
T |
A |
1: 176,583,898 (GRCm39) |
Q827L |
probably damaging |
Het |
| Clock |
A |
T |
5: 76,389,801 (GRCm39) |
I349K |
probably damaging |
Het |
| Cnppd1 |
A |
T |
1: 75,113,539 (GRCm39) |
V243E |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,273,706 (GRCm39) |
A2563D |
probably damaging |
Het |
| Cxxc5 |
T |
G |
18: 35,992,372 (GRCm39) |
C258G |
possibly damaging |
Het |
| Cycs |
G |
A |
6: 50,543,443 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,790,990 (GRCm39) |
H280Q |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,133,619 (GRCm39) |
R79H |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,153,114 (GRCm39) |
S197G |
probably benign |
Het |
| Dscam |
C |
T |
16: 96,446,273 (GRCm39) |
G1456E |
probably benign |
Het |
| Dst |
G |
A |
1: 34,218,332 (GRCm39) |
V1591I |
probably benign |
Het |
| Epha5 |
A |
G |
5: 84,385,387 (GRCm39) |
S315P |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,610,873 (GRCm39) |
T1012A |
probably benign |
Het |
| Fxr2 |
G |
A |
11: 69,532,416 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
T |
A |
9: 58,765,010 (GRCm39) |
V534E |
unknown |
Het |
| Hrh4 |
A |
G |
18: 13,155,454 (GRCm39) |
Y331C |
probably damaging |
Het |
| Insyn1 |
A |
G |
9: 58,406,533 (GRCm39) |
I148V |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,554,362 (GRCm39) |
H812L |
probably benign |
Het |
| Krt14 |
T |
A |
11: 100,094,786 (GRCm39) |
R451S |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,811,108 (GRCm39) |
T80A |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,307,305 (GRCm39) |
T383A |
probably damaging |
Het |
| Pcdha9 |
T |
A |
18: 37,131,707 (GRCm39) |
L259M |
possibly damaging |
Het |
| Pdgfd |
T |
C |
9: 6,293,818 (GRCm39) |
C131R |
probably damaging |
Het |
| Prrc2a |
C |
G |
17: 35,374,396 (GRCm39) |
R1418P |
probably damaging |
Het |
| Ptpra |
G |
T |
2: 30,327,589 (GRCm39) |
E114D |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,395,760 (GRCm39) |
C1157S |
probably damaging |
Het |
| Rnf126 |
A |
T |
10: 79,597,397 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,297,202 (GRCm39) |
V748A |
probably damaging |
Het |
| Serinc5 |
T |
A |
13: 92,825,194 (GRCm39) |
S208T |
probably benign |
Het |
| Sftpb |
A |
G |
6: 72,282,639 (GRCm39) |
I74V |
possibly damaging |
Het |
| Slc22a14 |
A |
C |
9: 118,999,643 (GRCm39) |
I516S |
possibly damaging |
Het |
| Slco2a1 |
G |
A |
9: 102,951,704 (GRCm39) |
C411Y |
possibly damaging |
Het |
| Spata31f1e |
T |
A |
4: 42,793,111 (GRCm39) |
L340F |
probably damaging |
Het |
| Tent5a |
G |
T |
9: 85,208,509 (GRCm39) |
R105S |
probably damaging |
Het |
| Tet3 |
G |
A |
6: 83,380,426 (GRCm39) |
P581S |
probably benign |
Het |
| Tmem231 |
T |
C |
8: 112,645,563 (GRCm39) |
D112G |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,763,385 (GRCm39) |
W296R |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,890,343 (GRCm39) |
L982H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,550,862 (GRCm39) |
R23183I |
possibly damaging |
Het |
| Tuft1 |
T |
A |
3: 94,542,726 (GRCm39) |
Y46F |
probably damaging |
Het |
| Vmn1r167 |
T |
A |
7: 23,205,014 (GRCm39) |
M1L |
probably null |
Het |
| Zfp808 |
A |
G |
13: 62,319,646 (GRCm39) |
R292G |
possibly damaging |
Het |
| Zp2 |
T |
C |
7: 119,731,748 (GRCm39) |
E669G |
probably benign |
Het |
| Zp2 |
C |
T |
7: 119,741,136 (GRCm39) |
M129I |
probably benign |
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 |
|
|
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 |
|
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'- TTTGTTAGCTGATGGCAAAGC -3'
(R):5'- GCCAGGAAAATTTGATGGACTC -3'
Sequencing Primer
(F):5'- GGCAAAGCCCAGCAACTAGATG -3'
(R):5'- CCATGTAGGTGCTGGGAATTAACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation