Incidental Mutation 'R5424:Senp7'
| ID |
426783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp7
|
| Ensembl Gene |
ENSMUSG00000052917 |
| Gene Name |
SUMO1/sentrin specific peptidase 7 |
| Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
| MMRRC Submission |
042990-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R5424 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56006471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 932
(S932G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089360]
[ENSMUST00000089362]
|
| AlphaFold |
Q8BUH8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089360
AA Change: S932G
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: S932G
| 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 |
possibly damaging
Transcript: ENSMUST00000089362
AA Change: S959G
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: S959G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202108
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202272
|
| Meta Mutation Damage Score |
0.0926 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (59/59) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
A |
1: 130,670,678 (GRCm39) |
A300D |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,810,777 (GRCm39) |
Y119H |
probably benign |
Het |
| Actb |
A |
G |
5: 142,891,306 (GRCm39) |
|
probably benign |
Het |
| Ada |
T |
A |
2: 163,570,045 (GRCm39) |
K323* |
probably null |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Aire |
A |
T |
10: 77,872,553 (GRCm39) |
V355E |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,969,443 (GRCm39) |
I117M |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,789,942 (GRCm39) |
F465L |
probably damaging |
Het |
| Cpne8 |
T |
A |
15: 90,400,260 (GRCm39) |
M345L |
probably benign |
Het |
| Ddx54 |
T |
C |
5: 120,757,926 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
T |
G |
1: 181,590,875 (GRCm39) |
M3256R |
possibly damaging |
Het |
| Epha2 |
T |
A |
4: 141,046,251 (GRCm39) |
Y483* |
probably null |
Het |
| Ermard |
T |
A |
17: 15,280,032 (GRCm39) |
S509T |
possibly damaging |
Het |
| Fam186a |
G |
T |
15: 99,843,644 (GRCm39) |
H867N |
unknown |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gas8 |
C |
A |
8: 124,253,251 (GRCm39) |
L200I |
possibly damaging |
Het |
| Gfra2 |
A |
T |
14: 71,133,287 (GRCm39) |
D39V |
probably damaging |
Het |
| Gm10770 |
T |
C |
2: 150,020,948 (GRCm39) |
T190A |
probably benign |
Het |
| Gm2617 |
T |
C |
19: 9,301,320 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
T |
7: 40,805,017 (GRCm39) |
|
probably benign |
Het |
| Gmppb |
T |
A |
9: 107,929,204 (GRCm39) |
|
probably null |
Het |
| Ifit2 |
T |
A |
19: 34,551,458 (GRCm39) |
C333S |
probably benign |
Het |
| Ighg2b |
T |
C |
12: 113,271,550 (GRCm39) |
K1R |
unknown |
Het |
| Impdh2-ps |
G |
T |
8: 100,758,141 (GRCm39) |
|
noncoding transcript |
Het |
| Kdelr2 |
A |
C |
5: 143,403,899 (GRCm39) |
E96A |
probably benign |
Het |
| Lama2 |
G |
A |
10: 26,860,392 (GRCm39) |
R3032C |
probably damaging |
Het |
| Lipg |
T |
A |
18: 75,087,324 (GRCm39) |
I166F |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,628,569 (GRCm39) |
V305A |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,695 (GRCm39) |
H128R |
probably benign |
Het |
| Mgat4a |
A |
G |
1: 37,505,636 (GRCm39) |
V189A |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,971,094 (GRCm39) |
E1033V |
probably damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,059,873 (GRCm39) |
V80A |
probably benign |
Het |
| Ndrg2 |
A |
G |
14: 52,146,342 (GRCm39) |
S153P |
probably damaging |
Het |
| Nelfa |
C |
T |
5: 34,079,189 (GRCm39) |
|
probably null |
Het |
| Nes |
G |
T |
3: 87,886,131 (GRCm39) |
E1419D |
possibly damaging |
Het |
| Nipa1 |
C |
A |
7: 55,629,223 (GRCm39) |
V297L |
possibly damaging |
Het |
| Obox5 |
T |
A |
7: 15,492,807 (GRCm39) |
I254K |
probably benign |
Het |
| Or56b35 |
T |
C |
7: 104,963,778 (GRCm39) |
V189A |
possibly damaging |
Het |
| Or8k24 |
G |
A |
2: 86,216,184 (GRCm39) |
Q193* |
probably null |
Het |
| Pcdhga7 |
G |
A |
18: 37,848,388 (GRCm39) |
A132T |
probably benign |
Het |
| Pla1a |
T |
A |
16: 38,235,137 (GRCm39) |
I186F |
probably damaging |
Het |
| Plscr4 |
T |
A |
9: 92,372,075 (GRCm39) |
M282K |
possibly damaging |
Het |
| Rpl22l1 |
T |
C |
3: 28,861,047 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,330,800 (GRCm39) |
D1246G |
probably damaging |
Het |
| Slc51a |
C |
A |
16: 32,297,565 (GRCm39) |
A111S |
probably benign |
Het |
| Srcin1 |
T |
A |
11: 97,427,885 (GRCm39) |
K236* |
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,004,839 (GRCm39) |
D362G |
possibly damaging |
Het |
| Tcl1b5 |
T |
C |
12: 105,146,275 (GRCm39) |
I116T |
possibly damaging |
Het |
| Tgm7 |
T |
A |
2: 120,929,522 (GRCm39) |
M251L |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,950,272 (GRCm39) |
Q778L |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
| Zfp622 |
T |
C |
15: 25,984,855 (GRCm39) |
C74R |
probably damaging |
Het |
| Zfp646 |
C |
A |
7: 127,481,875 (GRCm39) |
H1351N |
possibly 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 |
|
|
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 |
|
R8669:Senp7
|
UTSW |
16 |
55,986,315 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- CACAGTGGCATTTATGAAGGC -3'
(R):5'- GTCACTGTGGTCTCCATGTC -3'
Sequencing Primer
(F):5'- TGTGAAAAATCTGTCTTTGGAAATTG -3'
(R):5'- GCCATGTCCGTGCCTAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation