Incidental Mutation 'R3796:Cops7a'
| ID |
272760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cops7a
|
| Ensembl Gene |
ENSMUSG00000030127 |
| Gene Name |
COP9 signalosome subunit 7A |
| Synonyms |
COP9 complex S7a, D6Ertd35e |
| MMRRC Submission |
040757-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3796 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124958413-124965538 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124959832 bp (GRCm38)
|
| 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: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130011E15Rik |
A |
G |
19: 45,921,610 (GRCm38) |
|
probably benign |
Het |
| Adamts17 |
A |
G |
7: 66,839,914 (GRCm38) |
|
probably null |
Het |
| Alpk3 |
C |
A |
7: 81,092,753 (GRCm38) |
P773T |
probably benign |
Het |
| Alppl2 |
A |
G |
1: 87,088,354 (GRCm38) |
|
probably null |
Het |
| Basp1 |
C |
A |
15: 25,364,312 (GRCm38) |
|
probably benign |
Het |
| Clec14a |
G |
A |
12: 58,267,909 (GRCm38) |
A309V |
probably benign |
Het |
| Clk2 |
A |
G |
3: 89,175,689 (GRCm38) |
N424S |
probably benign |
Het |
| Csmd2 |
C |
T |
4: 128,517,595 (GRCm38) |
P2469S |
probably benign |
Het |
| Cwf19l1 |
A |
G |
19: 44,114,567 (GRCm38) |
V403A |
probably damaging |
Het |
| Dnajc16 |
G |
T |
4: 141,767,737 (GRCm38) |
D521E |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,505,487 (GRCm38) |
V772A |
probably benign |
Het |
| Dst |
G |
T |
1: 34,181,915 (GRCm38) |
V2267F |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,968,569 (GRCm38) |
F4S |
probably damaging |
Het |
| Fgfr1 |
G |
A |
8: 25,572,437 (GRCm38) |
D663N |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,586,418 (GRCm38) |
Y5170H |
probably damaging |
Het |
| Kcna2 |
T |
A |
3: 107,105,590 (GRCm38) |
L496I |
probably benign |
Het |
| Krt8 |
T |
C |
15: 101,999,442 (GRCm38) |
I233V |
probably benign |
Het |
| Mfap1b |
A |
G |
2: 121,473,905 (GRCm38) |
V3A |
probably benign |
Het |
| Phrf1 |
C |
T |
7: 141,259,918 (GRCm38) |
R243* |
probably null |
Het |
| Plbd2 |
A |
T |
5: 120,492,868 (GRCm38) |
I224N |
probably damaging |
Het |
| Rab19 |
T |
C |
6: 39,384,041 (GRCm38) |
V41A |
probably benign |
Het |
| Rrm1 |
T |
A |
7: 102,465,703 (GRCm38) |
|
probably null |
Het |
| Sacs |
T |
C |
14: 61,206,121 (GRCm38) |
V1872A |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,549,571 (GRCm38) |
V818A |
probably benign |
Het |
| Shprh |
C |
T |
10: 11,178,757 (GRCm38) |
L1037F |
possibly damaging |
Het |
| Slc24a3 |
A |
G |
2: 145,616,681 (GRCm38) |
D527G |
probably damaging |
Het |
| Slc27a6 |
T |
C |
18: 58,598,751 (GRCm38) |
|
probably benign |
Het |
| Slc35g3 |
A |
G |
11: 69,760,917 (GRCm38) |
F103L |
probably benign |
Het |
| Slc5a1 |
A |
G |
5: 33,152,652 (GRCm38) |
D408G |
probably damaging |
Het |
| Spag6l |
A |
T |
16: 16,763,052 (GRCm38) |
I477N |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 122,047,132 (GRCm38) |
V21A |
probably benign |
Het |
| Trim7 |
A |
G |
11: 48,845,670 (GRCm38) |
|
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,893,264 (GRCm38) |
N578S |
possibly damaging |
Het |
| Xdh |
T |
C |
17: 73,907,658 (GRCm38) |
E764G |
probably damaging |
Het |
| Zfp518a |
G |
T |
19: 40,915,310 (GRCm38) |
V1228F |
probably damaging |
Het |
|
| Other mutations in Cops7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01936:Cops7a
|
APN |
6 |
124,962,416 (GRCm38) |
missense |
probably benign |
0.00 |
|
rubric
|
UTSW |
6 |
124,960,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
H8562:Cops7a
|
UTSW |
6 |
124,962,453 (GRCm38) |
unclassified |
probably benign |
|
|
R0139:Cops7a
|
UTSW |
6 |
124,961,360 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0242:Cops7a
|
UTSW |
6 |
124,964,854 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0242:Cops7a
|
UTSW |
6 |
124,964,854 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1121:Cops7a
|
UTSW |
6 |
124,962,416 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1662:Cops7a
|
UTSW |
6 |
124,962,438 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1935:Cops7a
|
UTSW |
6 |
124,962,396 (GRCm38) |
nonsense |
probably null |
|
|
R2920:Cops7a
|
UTSW |
6 |
124,962,362 (GRCm38) |
missense |
probably benign |
0.21 |
|
R3797:Cops7a
|
UTSW |
6 |
124,959,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3799:Cops7a
|
UTSW |
6 |
124,959,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3854:Cops7a
|
UTSW |
6 |
124,959,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5034:Cops7a
|
UTSW |
6 |
124,962,620 (GRCm38) |
splice site |
probably null |
|
|
R5858:Cops7a
|
UTSW |
6 |
124,960,171 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6477:Cops7a
|
UTSW |
6 |
124,960,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6879:Cops7a
|
UTSW |
6 |
124,958,785 (GRCm38) |
splice site |
probably null |
|
|
R8906:Cops7a
|
UTSW |
6 |
124,962,408 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCGACTTGGACCAAATCTTG -3'
(R):5'- AAAATCATCAGGGCCCGTC -3'
Sequencing Primer
(F):5'- AAATCTTGGCGCTCCCTCGG -3'
(R):5'- CCGTCCGGTTCCAGAAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation