Incidental Mutation 'R3799:Cops7a'
| ID |
272879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cops7a
|
| Ensembl Gene |
ENSMUSG00000030127 |
| Gene Name |
COP9 signalosome subunit 7A |
| Synonyms |
COP9 complex S7a, D6Ertd35e |
| MMRRC Submission |
040877-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3799 (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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (35/36) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
A |
G |
4: 128,660,863 (GRCm39) |
T140A |
probably damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Ccna1 |
G |
T |
3: 54,958,040 (GRCm39) |
T155K |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,492,880 (GRCm39) |
W1214R |
probably damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,769,143 (GRCm39) |
V720A |
probably benign |
Het |
| Exog |
T |
G |
9: 119,278,876 (GRCm39) |
N186K |
probably damaging |
Het |
| Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,443,738 (GRCm39) |
V587M |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,980,745 (GRCm39) |
N615S |
possibly damaging |
Het |
| Gm5799 |
G |
A |
14: 43,781,150 (GRCm39) |
G17E |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Mastl |
T |
C |
2: 23,030,504 (GRCm39) |
|
probably benign |
Het |
| Mogat1 |
A |
G |
1: 78,505,775 (GRCm39) |
I216V |
probably benign |
Het |
| Nans |
A |
G |
4: 46,492,839 (GRCm39) |
E89G |
probably benign |
Het |
| Nuggc |
T |
A |
14: 65,857,087 (GRCm39) |
M396K |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,924,694 (GRCm39) |
F236S |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,667,883 (GRCm39) |
E145G |
probably damaging |
Het |
| Paqr3 |
T |
C |
5: 97,259,175 (GRCm39) |
N43S |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,200,388 (GRCm39) |
N309S |
probably benign |
Het |
| Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,705,915 (GRCm39) |
Y1869C |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
| Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,574,014 (GRCm39) |
E66G |
probably damaging |
Het |
| Tdpoz8 |
A |
T |
3: 92,981,393 (GRCm39) |
D137V |
probably damaging |
Het |
| Tmem8b |
A |
G |
4: 43,673,892 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,963,488 (GRCm39) |
N578S |
possibly damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,830,143 (GRCm39) |
L3I |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,875,244 (GRCm39) |
T578A |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,302,336 (GRCm39) |
F1002I |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
| Zfp518a |
G |
T |
19: 40,903,754 (GRCm39) |
V1228F |
probably damaging |
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 |
|
R3854: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'- GTTCGACTTGGACCAAATCTTG -3'
(R):5'- AAAATCATCAGGGCCCGTC -3'
Sequencing Primer
(F):5'- AAATCTTGGCGCTCCCTCGG -3'
(R):5'- CCGTCCGGTTCCAGAAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation