Incidental Mutation 'R2920:Cops7a'
ID |
255468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cops7a
|
Ensembl Gene |
ENSMUSG00000030127 |
Gene Name |
COP9 signalosome subunit 7A |
Synonyms |
COP9 complex S7a, D6Ertd35e |
MMRRC Submission |
040505-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2920 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
124935376-124942501 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124939325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 108
(V108A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032220]
[ENSMUST00000112439]
[ENSMUST00000129446]
[ENSMUST00000129976]
[ENSMUST00000148485]
|
AlphaFold |
Q9CZ04 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032220
AA Change: V108A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000032220 Gene: ENSMUSG00000030127 AA Change: V108A
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 benign
Transcript: ENSMUST00000112439
AA Change: V108A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000108058 Gene: ENSMUSG00000030127 AA Change: V108A
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
AA Change: V108A
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000114420 Gene: ENSMUSG00000030127 AA Change: V108A
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
AA Change: V108A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000117584 Gene: ENSMUSG00000030127 AA Change: V108A
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 |
0.0807 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
96% (48/50) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
A |
G |
10: 10,265,987 (GRCm39) |
Y1025H |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,596,984 (GRCm39) |
A4122T |
probably benign |
Het |
Aloxe3 |
C |
T |
11: 69,033,749 (GRCm39) |
T621I |
probably damaging |
Het |
Atp2b3 |
A |
C |
X: 72,577,526 (GRCm39) |
T318P |
probably benign |
Het |
Atrx |
A |
T |
X: 104,874,474 (GRCm39) |
V1962D |
probably benign |
Het |
Chl1 |
C |
A |
6: 103,672,304 (GRCm39) |
T531K |
probably damaging |
Het |
Clca3b |
T |
A |
3: 144,543,614 (GRCm39) |
D405V |
probably benign |
Het |
Clca3b |
C |
T |
3: 144,552,692 (GRCm39) |
D115N |
probably benign |
Het |
Comtd1 |
A |
G |
14: 21,897,686 (GRCm39) |
L149P |
possibly damaging |
Het |
Crebbp |
A |
G |
16: 3,936,946 (GRCm39) |
V343A |
probably damaging |
Het |
Edrf1 |
T |
A |
7: 133,269,301 (GRCm39) |
D1109E |
probably benign |
Het |
Elmo3 |
A |
G |
8: 106,034,691 (GRCm39) |
E359G |
possibly damaging |
Het |
Ep400 |
C |
A |
5: 110,903,780 (GRCm39) |
G273V |
probably damaging |
Het |
Fgfr3 |
A |
G |
5: 33,891,284 (GRCm39) |
N516S |
probably damaging |
Het |
Glb1l |
T |
A |
1: 75,185,834 (GRCm39) |
E31D |
probably benign |
Het |
Hdac1-ps |
A |
G |
17: 78,800,275 (GRCm39) |
D422G |
probably damaging |
Het |
Il12rb2 |
C |
T |
6: 67,337,552 (GRCm39) |
V110I |
probably damaging |
Het |
Ints3 |
T |
C |
3: 90,300,469 (GRCm39) |
E884G |
probably benign |
Het |
Lin7b |
A |
G |
7: 45,017,821 (GRCm39) |
V170A |
possibly damaging |
Het |
Lrch2 |
A |
T |
X: 146,256,026 (GRCm39) |
V750E |
probably damaging |
Het |
Mepe |
C |
T |
5: 104,486,113 (GRCm39) |
R418C |
probably damaging |
Het |
Mettl25 |
A |
T |
10: 105,601,038 (GRCm39) |
|
probably null |
Het |
Mphosph9 |
G |
A |
5: 124,399,069 (GRCm39) |
T982I |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myo10 |
G |
T |
15: 25,801,226 (GRCm39) |
V1472L |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,778,501 (GRCm39) |
K445R |
probably damaging |
Het |
Ntng2 |
T |
C |
2: 29,094,223 (GRCm39) |
M383V |
probably benign |
Het |
Or13n4 |
C |
T |
7: 106,423,571 (GRCm39) |
R54Q |
probably benign |
Het |
Or2z2 |
T |
C |
11: 58,346,403 (GRCm39) |
Y124C |
probably damaging |
Het |
Or7a37 |
A |
C |
10: 78,805,846 (GRCm39) |
D121A |
probably damaging |
Het |
Pak6 |
A |
T |
2: 118,524,488 (GRCm39) |
|
probably benign |
Het |
Pcdh8 |
G |
T |
14: 80,006,154 (GRCm39) |
P803Q |
possibly damaging |
Het |
Pfkfb3 |
C |
T |
2: 11,489,138 (GRCm39) |
V286I |
probably benign |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rint1 |
A |
G |
5: 24,010,400 (GRCm39) |
E203G |
probably benign |
Het |
Sdf2 |
G |
C |
11: 78,145,680 (GRCm39) |
V126L |
probably damaging |
Het |
Slc13a5 |
T |
C |
11: 72,138,617 (GRCm39) |
E442G |
possibly damaging |
Het |
Slc14a2 |
G |
T |
18: 78,201,512 (GRCm39) |
S669* |
probably null |
Het |
Slc38a7 |
A |
G |
8: 96,572,571 (GRCm39) |
I157T |
possibly damaging |
Het |
Slc4a5 |
T |
C |
6: 83,241,369 (GRCm39) |
L215P |
probably damaging |
Het |
Tbc1d9 |
T |
C |
8: 83,937,098 (GRCm39) |
V60A |
probably benign |
Het |
Tcerg1l |
T |
C |
7: 137,850,108 (GRCm39) |
R422G |
probably damaging |
Het |
Tmem107 |
T |
C |
11: 68,962,247 (GRCm39) |
L68P |
probably damaging |
Het |
Ugt2b5 |
A |
G |
5: 87,273,266 (GRCm39) |
F467L |
possibly damaging |
Het |
Vmn1r19 |
A |
T |
6: 57,381,909 (GRCm39) |
N154I |
probably benign |
Het |
Vmn2r69 |
T |
A |
7: 85,060,973 (GRCm39) |
I204L |
probably benign |
Het |
Zbtb1 |
T |
A |
12: 76,432,619 (GRCm39) |
S202T |
possibly 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 |
|
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 |
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'- CATCTGATGAATGAGCCGGC -3'
(R):5'- TGAACCTCTGCAGTGTTAGACC -3'
Sequencing Primer
(F):5'- GGCTATTTTTACCCCAATCACAAAAG -3'
(R):5'- CCTCTGCAGTGTTAGACCATAATTG -3'
|
Posted On |
2014-12-29 |