Incidental Mutation 'R3797:Cops7a'
| ID |
272792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cops7a
|
| Ensembl Gene |
ENSMUSG00000030127 |
| Gene Name |
COP9 signalosome subunit 7A |
| Synonyms |
COP9 complex S7a, D6Ertd35e |
| MMRRC Submission |
040758-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3797 (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: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| B4galt1 |
G |
A |
4: 40,807,258 (GRCm39) |
T376I |
probably benign |
Het |
| Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,775,036 (GRCm39) |
G535R |
probably null |
Het |
| Ccdc170 |
G |
A |
10: 4,510,920 (GRCm39) |
V660I |
possibly damaging |
Het |
| Cdc73 |
A |
T |
1: 143,553,461 (GRCm39) |
D215E |
probably benign |
Het |
| Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
| Clns1a |
G |
A |
7: 97,346,042 (GRCm39) |
G36R |
probably benign |
Het |
| Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
| Dsp |
T |
A |
13: 38,361,260 (GRCm39) |
|
probably null |
Het |
| Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 101,848,466 (GRCm39) |
T611A |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,127,204 (GRCm39) |
I683M |
possibly damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
| Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,669,625 (GRCm39) |
Q1455R |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,573,505 (GRCm39) |
E131G |
possibly damaging |
Het |
| Or51v14 |
C |
T |
7: 103,260,654 (GRCm39) |
R302Q |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,942,746 (GRCm39) |
I465V |
probably benign |
Het |
| Pcdhgb8 |
T |
C |
18: 37,895,728 (GRCm39) |
I266T |
probably benign |
Het |
| Pde4d |
T |
C |
13: 109,769,431 (GRCm39) |
S40P |
probably benign |
Het |
| Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
| Polk |
A |
T |
13: 96,623,490 (GRCm39) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 4,922,414 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,287,500 (GRCm39) |
C218R |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
| Skida1 |
C |
A |
2: 18,050,708 (GRCm39) |
E815* |
probably null |
Het |
| Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
| Svil |
T |
A |
18: 5,060,534 (GRCm39) |
C802S |
probably benign |
Het |
| Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
G |
A |
15: 9,310,727 (GRCm39) |
W336* |
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,723,311 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,862,602 (GRCm39) |
I590N |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
| Xpnpep1 |
A |
T |
19: 52,994,773 (GRCm39) |
V285D |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,665,702 (GRCm39) |
K313R |
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 |
|
R3799: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'- TCAGTTCGACTTGGACCAAATCTTG -3'
(R):5'- TAAAATCATCAGGGCCCGTCC -3'
Sequencing Primer
(F):5'- AAATCTTGGCGCTCCCTCGG -3'
(R):5'- CCGTCCGGTTCCAGAAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation