Incidental Mutation 'R3854:Cops7a'
ID |
276057 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cops7a
|
Ensembl Gene |
ENSMUSG00000030127 |
Gene Name |
COP9 signalosome subunit 7A |
Synonyms |
COP9 complex S7a, D6Ertd35e |
MMRRC Submission |
041605-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3854 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
124935376-124942501 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 124936795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 252
(R252H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032220]
[ENSMUST00000112439]
[ENSMUST00000129446]
[ENSMUST00000129976]
[ENSMUST00000148485]
|
AlphaFold |
Q9CZ04 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032220
AA Change: R252H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000032220 Gene: ENSMUSG00000030127 AA Change: R252H
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
PINT
|
87 |
177 |
2.65e-18 |
SMART |
coiled coil region
|
197 |
230 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083831
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112439
AA Change: R252H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000108058 Gene: ENSMUSG00000030127 AA Change: R252H
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
PINT
|
87 |
177 |
2.65e-18 |
SMART |
coiled coil region
|
197 |
230 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129446
|
SMART Domains |
Protein: ENSMUSP00000114420 Gene: ENSMUSG00000030127
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
PINT
|
87 |
176 |
2e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129976
|
SMART Domains |
Protein: ENSMUSP00000117584 Gene: ENSMUSG00000030127
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
PINT
|
87 |
177 |
2.65e-18 |
SMART |
coiled coil region
|
197 |
222 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135645
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148485
|
SMART Domains |
Protein: ENSMUSP00000115348 Gene: ENSMUSG00000030127
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
Blast:PINT
|
31 |
77 |
2e-7 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149346
|
Meta Mutation Damage Score |
0.1205 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.2%
|
Validation Efficiency |
96% (46/48) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1 |
T |
C |
2: 58,352,946 (GRCm39) |
K338R |
probably damaging |
Het |
Adar |
C |
T |
3: 89,643,565 (GRCm39) |
P482L |
probably damaging |
Het |
Adh5 |
A |
G |
3: 138,156,776 (GRCm39) |
D154G |
probably benign |
Het |
Apoa1 |
A |
G |
9: 46,141,521 (GRCm39) |
S206G |
probably benign |
Het |
Aspdh |
T |
C |
7: 44,115,613 (GRCm39) |
V5A |
possibly damaging |
Het |
Bend3 |
AAGGACCA |
AA |
10: 43,386,713 (GRCm39) |
|
probably benign |
Het |
C2cd3 |
A |
T |
7: 100,103,808 (GRCm39) |
|
probably null |
Het |
Ccdc87 |
A |
G |
19: 4,889,546 (GRCm39) |
I13V |
probably benign |
Het |
Cd163 |
A |
T |
6: 124,288,525 (GRCm39) |
N319Y |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,983,543 (GRCm39) |
|
probably benign |
Het |
Ceacam2 |
T |
C |
7: 25,238,227 (GRCm39) |
S66G |
probably benign |
Het |
Cep131 |
G |
A |
11: 119,958,011 (GRCm39) |
R772* |
probably null |
Het |
Clhc1 |
T |
C |
11: 29,521,789 (GRCm39) |
C441R |
probably damaging |
Het |
Clstn2 |
G |
A |
9: 97,345,648 (GRCm39) |
Q567* |
probably null |
Het |
Daam2 |
T |
C |
17: 49,765,624 (GRCm39) |
N1093S |
probably benign |
Het |
Dnajc16 |
G |
A |
4: 141,490,964 (GRCm39) |
R729* |
probably null |
Het |
Eml6 |
C |
T |
11: 29,699,905 (GRCm39) |
A1744T |
possibly damaging |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Fbll1 |
T |
A |
11: 35,688,526 (GRCm39) |
T246S |
probably benign |
Het |
Fbln2 |
A |
T |
6: 91,243,353 (GRCm39) |
T910S |
probably damaging |
Het |
Fcna |
C |
T |
2: 25,517,784 (GRCm39) |
G22D |
possibly damaging |
Het |
Gadl1 |
G |
T |
9: 115,835,732 (GRCm39) |
E387* |
probably null |
Het |
Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
Gpr82 |
A |
T |
X: 13,531,577 (GRCm39) |
T42S |
probably benign |
Het |
Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
Lbr |
G |
A |
1: 181,659,280 (GRCm39) |
T167I |
probably benign |
Het |
Mdh1 |
C |
T |
11: 21,509,281 (GRCm39) |
V234I |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,308,081 (GRCm39) |
H420R |
probably damaging |
Het |
Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
Nrcam |
G |
T |
12: 44,622,667 (GRCm39) |
A938S |
probably benign |
Het |
Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
Or10z1 |
T |
A |
1: 174,077,716 (GRCm39) |
Y259F |
probably damaging |
Het |
Or1p1c |
A |
T |
11: 74,161,105 (GRCm39) |
K297* |
probably null |
Het |
Or51r1 |
T |
G |
7: 102,228,227 (GRCm39) |
L175R |
probably damaging |
Het |
Pgap3 |
T |
C |
11: 98,281,638 (GRCm39) |
T187A |
possibly damaging |
Het |
Pus10 |
T |
C |
11: 23,653,003 (GRCm39) |
|
probably null |
Het |
Rnf213 |
T |
C |
11: 119,371,765 (GRCm39) |
|
probably benign |
Het |
Sag |
T |
C |
1: 87,752,240 (GRCm39) |
|
probably benign |
Het |
Serpinb9e |
A |
G |
13: 33,439,137 (GRCm39) |
I188V |
probably benign |
Het |
Shcbp1l |
A |
T |
1: 153,328,190 (GRCm39) |
I634F |
probably damaging |
Het |
Slc6a16 |
T |
A |
7: 44,917,596 (GRCm39) |
C485S |
probably damaging |
Het |
Vmn1r215 |
A |
C |
13: 23,260,058 (GRCm39) |
M33L |
probably benign |
Het |
Vps26c |
A |
G |
16: 94,311,665 (GRCm39) |
F95L |
probably benign |
Het |
|
Other mutations in Cops7a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01936:Cops7a
|
APN |
6 |
124,939,379 (GRCm39) |
missense |
probably benign |
0.00 |
rubric
|
UTSW |
6 |
124,937,139 (GRCm39) |
missense |
probably damaging |
1.00 |
H8562:Cops7a
|
UTSW |
6 |
124,939,416 (GRCm39) |
unclassified |
probably benign |
|
R0139:Cops7a
|
UTSW |
6 |
124,938,323 (GRCm39) |
missense |
probably damaging |
0.98 |
R0242:Cops7a
|
UTSW |
6 |
124,941,817 (GRCm39) |
missense |
probably benign |
0.00 |
R0242:Cops7a
|
UTSW |
6 |
124,941,817 (GRCm39) |
missense |
probably benign |
0.00 |
R1121:Cops7a
|
UTSW |
6 |
124,939,379 (GRCm39) |
missense |
probably benign |
0.00 |
R1662:Cops7a
|
UTSW |
6 |
124,939,401 (GRCm39) |
missense |
probably damaging |
0.96 |
R1935:Cops7a
|
UTSW |
6 |
124,939,359 (GRCm39) |
nonsense |
probably null |
|
R2920:Cops7a
|
UTSW |
6 |
124,939,325 (GRCm39) |
missense |
probably benign |
0.21 |
R3796:Cops7a
|
UTSW |
6 |
124,936,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R3797:Cops7a
|
UTSW |
6 |
124,936,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R3799:Cops7a
|
UTSW |
6 |
124,936,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R5034:Cops7a
|
UTSW |
6 |
124,939,583 (GRCm39) |
splice site |
probably null |
|
R5858:Cops7a
|
UTSW |
6 |
124,937,134 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6477:Cops7a
|
UTSW |
6 |
124,937,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R6879:Cops7a
|
UTSW |
6 |
124,935,748 (GRCm39) |
splice site |
probably null |
|
R8906:Cops7a
|
UTSW |
6 |
124,939,371 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGTTCGACTTGGACCAAATC -3'
(R):5'- AAAATCATCAGGGCCCGTCC -3'
Sequencing Primer
(F):5'- AAATCTTGGCGCTCCCTCGG -3'
(R):5'- CCGTCCGGTTCCAGAAC -3'
|
Posted On |
2015-04-06 |