Incidental Mutation 'R8669:Senp7'
| ID |
661075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp7
|
| Ensembl Gene |
ENSMUSG00000052917 |
| Gene Name |
SUMO1/sentrin specific peptidase 7 |
| Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
| MMRRC Submission |
068524-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R8669 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55986315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 582
(S582P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089360]
[ENSMUST00000089362]
|
| AlphaFold |
Q8BUH8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089360
AA Change: S555P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: S555P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
165 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
639 |
646 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
734 |
999 |
7.8e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089362
AA Change: S582P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: S582P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
192 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
673 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
761 |
1026 |
8.5e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: This gene encodes a SUMO deconjugating enzyme of the Sentrin/SUMO-specific protease (SENP) family. The encoded protein is a protease that exhibits deSUMOylating activity towards proteins involved in chromatin remodeling and promotes chromatin relaxation for DNA repair or transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
T |
12: 72,949,234 (GRCm39) |
S305T |
probably benign |
Het |
| Ankrd42 |
A |
G |
7: 92,268,881 (GRCm39) |
V154A |
possibly damaging |
Het |
| Apc2 |
C |
T |
10: 80,149,491 (GRCm39) |
T1515I |
probably damaging |
Het |
| Blzf1 |
T |
A |
1: 164,130,113 (GRCm39) |
N80Y |
possibly damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc125 |
T |
C |
13: 100,832,683 (GRCm39) |
L420P |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,428,352 (GRCm39) |
T1976A |
probably benign |
Het |
| Cdc20b |
C |
T |
13: 113,208,460 (GRCm39) |
P219S |
possibly damaging |
Het |
| Cep89 |
A |
G |
7: 35,128,602 (GRCm39) |
D585G |
probably benign |
Het |
| Crnn |
A |
T |
3: 93,056,296 (GRCm39) |
R361* |
probably null |
Het |
| Defb5 |
A |
G |
8: 19,300,761 (GRCm39) |
I38V |
probably benign |
Het |
| Defb8 |
A |
G |
8: 19,495,973 (GRCm39) |
V29A |
probably benign |
Het |
| Dgkh |
A |
G |
14: 78,962,459 (GRCm39) |
V24A |
probably benign |
Het |
| Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
| Dnah12 |
A |
T |
14: 26,552,582 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,723,132 (GRCm39) |
N386S |
probably damaging |
Het |
| Dyrk1a |
G |
T |
16: 94,464,650 (GRCm39) |
R77L |
probably damaging |
Het |
| Fbxw19 |
G |
T |
9: 109,313,482 (GRCm39) |
L239I |
probably benign |
Het |
| Gal3st2b |
A |
T |
1: 93,868,764 (GRCm39) |
I332L |
possibly damaging |
Het |
| Gcnt1 |
T |
G |
19: 17,307,143 (GRCm39) |
K194T |
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,742,002 (GRCm39) |
W475R |
probably benign |
Het |
| Gpatch1 |
C |
A |
7: 34,991,204 (GRCm39) |
W613C |
probably damaging |
Het |
| Gulp1 |
T |
A |
1: 44,805,270 (GRCm39) |
S120T |
probably benign |
Het |
| Ift122 |
C |
A |
6: 115,900,252 (GRCm39) |
Q946K |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,370,928 (GRCm39) |
L1065H |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,476,050 (GRCm39) |
D579G |
probably damaging |
Het |
| Klhl40 |
T |
A |
9: 121,607,088 (GRCm39) |
S83T |
probably benign |
Het |
| Krt19 |
T |
C |
11: 100,031,993 (GRCm39) |
K320E |
probably damaging |
Het |
| Krt87 |
C |
A |
15: 101,385,777 (GRCm39) |
V273L |
probably benign |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,172,047 (GRCm39) |
|
probably null |
Het |
| Lrrk1 |
G |
A |
7: 65,912,344 (GRCm39) |
L1739F |
probably benign |
Het |
| Mthfr |
A |
G |
4: 148,135,934 (GRCm39) |
N336D |
probably benign |
Het |
| Myo6 |
T |
G |
9: 80,173,531 (GRCm39) |
L557R |
unknown |
Het |
| Naip2 |
T |
C |
13: 100,325,477 (GRCm39) |
S144G |
probably benign |
Het |
| Nfatc1 |
T |
C |
18: 80,725,406 (GRCm39) |
K453E |
probably damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,281 (GRCm39) |
D196V |
probably benign |
Het |
| Osm |
A |
T |
11: 4,189,665 (GRCm39) |
I150L |
probably benign |
Het |
| Phtf1 |
T |
A |
3: 103,910,792 (GRCm39) |
N639K |
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,201,228 (GRCm39) |
M1K |
probably null |
Het |
| Rhbdl3 |
G |
A |
11: 80,244,339 (GRCm39) |
V349M |
probably damaging |
Het |
| Slc16a14 |
A |
G |
1: 84,900,605 (GRCm39) |
S127P |
probably benign |
Het |
| Slc22a21 |
C |
T |
11: 53,870,643 (GRCm39) |
W14* |
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,812,430 (GRCm39) |
E553D |
probably benign |
Het |
| Speer4a1 |
T |
G |
5: 26,243,236 (GRCm39) |
N83T |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,070,119 (GRCm39) |
S2556C |
possibly damaging |
Het |
| Tc2n |
T |
C |
12: 101,660,851 (GRCm39) |
N127S |
probably damaging |
Het |
| Tcstv7b |
C |
A |
13: 120,702,338 (GRCm39) |
P45T |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Thra |
T |
C |
11: 98,654,476 (GRCm39) |
V282A |
possibly damaging |
Het |
| Tmem161b |
A |
T |
13: 84,420,288 (GRCm39) |
|
probably null |
Het |
| Tmem218 |
C |
T |
9: 37,133,815 (GRCm39) |
A85V |
probably benign |
Het |
| Txnip |
T |
C |
3: 96,466,252 (GRCm39) |
Y100H |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,509,704 (GRCm39) |
D728G |
possibly damaging |
Het |
| Zfp462 |
T |
A |
4: 55,051,313 (GRCm39) |
I2262K |
probably damaging |
Het |
| Zfp804a |
A |
T |
2: 82,088,106 (GRCm39) |
D645V |
probably damaging |
Het |
|
| Other mutations in Senp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00895:Senp7
|
APN |
16 |
55,902,740 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01610:Senp7
|
APN |
16 |
55,996,186 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01627:Senp7
|
APN |
16 |
55,992,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02748:Senp7
|
APN |
16 |
56,006,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03031:Senp7
|
APN |
16 |
55,996,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03083:Senp7
|
APN |
16 |
55,992,228 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0034:Senp7
|
UTSW |
16 |
55,973,933 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0200:Senp7
|
UTSW |
16 |
55,944,236 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0242:Senp7
|
UTSW |
16 |
55,999,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Senp7
|
UTSW |
16 |
55,999,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0547:Senp7
|
UTSW |
16 |
55,996,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Senp7
|
UTSW |
16 |
55,944,236 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1595:Senp7
|
UTSW |
16 |
56,005,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1737:Senp7
|
UTSW |
16 |
55,944,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Senp7
|
UTSW |
16 |
55,978,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1945:Senp7
|
UTSW |
16 |
55,944,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2143:Senp7
|
UTSW |
16 |
55,990,169 (GRCm39) |
missense |
probably benign |
|
|
R2275:Senp7
|
UTSW |
16 |
56,005,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2508:Senp7
|
UTSW |
16 |
55,971,725 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3404:Senp7
|
UTSW |
16 |
56,008,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3405:Senp7
|
UTSW |
16 |
56,008,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3717:Senp7
|
UTSW |
16 |
55,999,420 (GRCm39) |
splice site |
probably benign |
|
|
R3885:Senp7
|
UTSW |
16 |
56,006,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4159:Senp7
|
UTSW |
16 |
55,973,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4160:Senp7
|
UTSW |
16 |
55,973,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4161:Senp7
|
UTSW |
16 |
55,973,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4512:Senp7
|
UTSW |
16 |
55,986,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5291:Senp7
|
UTSW |
16 |
56,006,542 (GRCm39) |
nonsense |
probably null |
|
|
R5315:Senp7
|
UTSW |
16 |
56,000,889 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5390:Senp7
|
UTSW |
16 |
55,990,279 (GRCm39) |
missense |
probably benign |
|
|
R5424:Senp7
|
UTSW |
16 |
56,006,471 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5643:Senp7
|
UTSW |
16 |
56,004,512 (GRCm39) |
splice site |
silent |
|
|
R5644:Senp7
|
UTSW |
16 |
56,004,512 (GRCm39) |
splice site |
silent |
|
|
R5645:Senp7
|
UTSW |
16 |
55,993,571 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5799:Senp7
|
UTSW |
16 |
55,959,468 (GRCm39) |
splice site |
probably null |
|
|
R5860:Senp7
|
UTSW |
16 |
55,975,722 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5954:Senp7
|
UTSW |
16 |
55,990,234 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6164:Senp7
|
UTSW |
16 |
55,990,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Senp7
|
UTSW |
16 |
55,982,738 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6647:Senp7
|
UTSW |
16 |
55,993,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6652:Senp7
|
UTSW |
16 |
55,944,257 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7310:Senp7
|
UTSW |
16 |
56,006,445 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7460:Senp7
|
UTSW |
16 |
55,993,545 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7480:Senp7
|
UTSW |
16 |
55,975,589 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7609:Senp7
|
UTSW |
16 |
55,932,000 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7760:Senp7
|
UTSW |
16 |
55,959,442 (GRCm39) |
missense |
probably benign |
|
|
R8171:Senp7
|
UTSW |
16 |
55,932,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Senp7
|
UTSW |
16 |
55,974,000 (GRCm39) |
nonsense |
probably null |
|
|
R8305:Senp7
|
UTSW |
16 |
55,975,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Senp7
|
UTSW |
16 |
56,008,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8394:Senp7
|
UTSW |
16 |
55,990,190 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8428:Senp7
|
UTSW |
16 |
55,999,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Senp7
|
UTSW |
16 |
56,008,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8554:Senp7
|
UTSW |
16 |
55,978,973 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9153:Senp7
|
UTSW |
16 |
56,006,486 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9521:Senp7
|
UTSW |
16 |
55,992,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Senp7
|
UTSW |
16 |
55,971,652 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9624:Senp7
|
UTSW |
16 |
55,990,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9631:Senp7
|
UTSW |
16 |
55,975,631 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9657:Senp7
|
UTSW |
16 |
55,944,295 (GRCm39) |
nonsense |
probably null |
|
|
R9718:Senp7
|
UTSW |
16 |
55,944,277 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9727:Senp7
|
UTSW |
16 |
55,990,169 (GRCm39) |
missense |
probably benign |
|
|
U24488:Senp7
|
UTSW |
16 |
56,005,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGGTATCAGAGATGGTGTATTC -3'
(R):5'- CCATAACTGGATAAAATTACCAGGC -3'
Sequencing Primer
(F):5'- TCAGAGATGGTGTATTCCTAAACAG -3'
(R):5'- TGGATAAAATTACCAGGCAAAATCAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation