Incidental Mutation 'R1737:Senp7'
| ID |
199819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp7
|
| Ensembl Gene |
ENSMUSG00000052917 |
| Gene Name |
SUMO1/sentrin specific peptidase 7 |
| Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
| MMRRC Submission |
039769-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R1737 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 55944162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 135
(T135K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049128]
[ENSMUST00000089360]
[ENSMUST00000089362]
[ENSMUST00000201011]
[ENSMUST00000202000]
[ENSMUST00000202799]
|
| AlphaFold |
Q8BUH8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049128
AA Change: T162K
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000043023
Gene: ENSMUSG00000052917
AA Change: T162K
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
86 |
118 |
1.08e-5 |
PROSPERO |
|
internal_repeat_1
|
152 |
184 |
1.08e-5 |
PROSPERO |
|
low complexity region
|
192 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
233 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089360
AA Change: T135K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: T135K
| 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: T162K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: T162K
| 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 |
probably damaging
Transcript: ENSMUST00000201011
AA Change: T135K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201915
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202000
AA Change: T162K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144116
Gene: ENSMUSG00000052917
AA Change: T162K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
192 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202799
AA Change: T135K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144348
Gene: ENSMUSG00000052917
AA Change: T135K
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
59 |
91 |
2.07e-5 |
PROSPERO |
|
internal_repeat_1
|
125 |
157 |
2.07e-5 |
PROSPERO |
|
low complexity region
|
165 |
181 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1095 |
| Coding Region Coverage |
- 1x: 97.6%
- 3x: 96.9%
- 10x: 95.1%
- 20x: 91.4%
|
| Validation Efficiency |
100% (75/75) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Ak7 |
G |
A |
12: 105,708,591 (GRCm39) |
V349M |
probably damaging |
Het |
| Aldh1a2 |
A |
T |
9: 71,192,453 (GRCm39) |
E436V |
possibly damaging |
Het |
| Apc |
C |
A |
18: 34,450,075 (GRCm39) |
P2290T |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,476,986 (GRCm39) |
|
probably benign |
Het |
| Bahd1 |
T |
C |
2: 118,746,404 (GRCm39) |
S8P |
probably damaging |
Het |
| BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,862,677 (GRCm39) |
Y28H |
probably benign |
Het |
| Cdh10 |
A |
T |
15: 18,964,149 (GRCm39) |
I104F |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,703,061 (GRCm39) |
D508G |
possibly damaging |
Het |
| Ces2a |
G |
T |
8: 105,467,456 (GRCm39) |
A494S |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,624,553 (GRCm39) |
T123M |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,474,904 (GRCm39) |
S1102P |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,610,733 (GRCm39) |
D224Y |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,208,357 (GRCm39) |
|
probably benign |
Het |
| Cyp7a1 |
T |
A |
4: 6,272,848 (GRCm39) |
T122S |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,857,000 (GRCm39) |
|
probably null |
Het |
| Eid2 |
T |
C |
7: 27,967,924 (GRCm39) |
V182A |
possibly damaging |
Het |
| Eloa |
A |
T |
4: 135,738,081 (GRCm39) |
V293D |
probably benign |
Het |
| Enkur |
G |
A |
2: 21,199,106 (GRCm39) |
P143S |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,510,548 (GRCm39) |
Y99H |
probably damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,393,596 (GRCm39) |
L66I |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,110,928 (GRCm39) |
R985S |
unknown |
Het |
| Fscb |
A |
T |
12: 64,521,355 (GRCm39) |
I37K |
possibly damaging |
Het |
| H2-M10.3 |
T |
C |
17: 36,679,296 (GRCm39) |
N3S |
probably benign |
Het |
| H2-Q7 |
A |
C |
17: 35,658,602 (GRCm39) |
Y80S |
probably damaging |
Het |
| H60c |
A |
T |
10: 3,209,914 (GRCm39) |
D124E |
possibly damaging |
Het |
| Hsd3b2 |
A |
T |
3: 98,618,862 (GRCm39) |
V361E |
probably damaging |
Het |
| Ice1 |
A |
C |
13: 70,754,444 (GRCm39) |
C547W |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,945,289 (GRCm39) |
D670V |
probably damaging |
Het |
| Jmy |
A |
G |
13: 93,635,303 (GRCm39) |
V171A |
probably damaging |
Het |
| Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
| Klk1b1 |
A |
T |
7: 43,619,783 (GRCm39) |
Q114L |
probably benign |
Het |
| Krt10 |
A |
G |
11: 99,278,213 (GRCm39) |
M280T |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,109,916 (GRCm39) |
R2179Q |
probably benign |
Het |
| Mbd3l1 |
C |
T |
9: 18,396,225 (GRCm39) |
P117S |
possibly damaging |
Het |
| Med18 |
A |
T |
4: 132,187,420 (GRCm39) |
S71R |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,895,607 (GRCm39) |
I643N |
possibly damaging |
Het |
| Nfib |
T |
C |
4: 82,416,826 (GRCm39) |
K70E |
probably damaging |
Het |
| Nr3c2 |
A |
C |
8: 77,634,958 (GRCm39) |
S20R |
probably benign |
Het |
| Nr6a1 |
A |
T |
2: 38,628,955 (GRCm39) |
F356L |
probably benign |
Het |
| Oca2 |
G |
A |
7: 55,978,533 (GRCm39) |
R567H |
probably damaging |
Het |
| Or10k2 |
A |
G |
8: 84,268,045 (GRCm39) |
S91G |
probably benign |
Het |
| Or1e35 |
T |
A |
11: 73,797,911 (GRCm39) |
M136L |
possibly damaging |
Het |
| Or1p1 |
T |
C |
11: 74,179,637 (GRCm39) |
L55P |
probably damaging |
Het |
| Or6c88 |
T |
A |
10: 129,406,697 (GRCm39) |
Y58N |
probably damaging |
Het |
| Or8g33 |
T |
C |
9: 39,338,254 (GRCm39) |
T38A |
probably damaging |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,009 (GRCm39) |
T362A |
probably benign |
Het |
| Pip5k1b |
A |
T |
19: 24,374,404 (GRCm39) |
V59E |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,410,905 (GRCm39) |
|
probably null |
Het |
| Prr36 |
T |
C |
8: 4,264,370 (GRCm39) |
|
probably benign |
Het |
| Ptger2 |
A |
G |
14: 45,239,228 (GRCm39) |
T289A |
probably benign |
Het |
| Rad18 |
A |
G |
6: 112,658,498 (GRCm39) |
F136L |
probably damaging |
Het |
| Rhbg |
T |
A |
3: 88,153,181 (GRCm39) |
S258C |
probably damaging |
Het |
| Scgb2b27 |
T |
C |
7: 33,712,739 (GRCm39) |
I34M |
possibly damaging |
Het |
| Slc20a2 |
A |
G |
8: 23,035,582 (GRCm39) |
I193M |
probably damaging |
Het |
| Slc27a1 |
G |
A |
8: 72,023,504 (GRCm39) |
V47I |
probably benign |
Het |
| Slc9a5 |
G |
A |
8: 106,094,766 (GRCm39) |
V786M |
probably damaging |
Het |
| Smyd1 |
A |
G |
6: 71,193,875 (GRCm39) |
L350P |
probably damaging |
Het |
| Ston2 |
A |
T |
12: 91,614,681 (GRCm39) |
F576I |
probably damaging |
Het |
| Sulf2 |
A |
T |
2: 165,924,598 (GRCm39) |
V496E |
probably benign |
Het |
| Tcl1b3 |
C |
A |
12: 105,157,481 (GRCm39) |
S41Y |
probably damaging |
Het |
| Tulp2 |
A |
T |
7: 45,169,201 (GRCm39) |
N256I |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,138,668 (GRCm39) |
C349S |
probably damaging |
Het |
| Vcl |
T |
C |
14: 21,070,604 (GRCm39) |
I730T |
probably damaging |
Het |
| Vmn1r61 |
A |
T |
7: 5,614,060 (GRCm39) |
F85I |
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,710,403 (GRCm39) |
T709A |
probably benign |
Het |
| Zfr2 |
T |
C |
10: 81,077,919 (GRCm39) |
S249P |
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 |
|
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 |
|
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'- CGTTGATTCCCTGAATGCTACGATCC -3'
(R):5'- ACTGCTGCTTCCAAAAGACATCCTATG -3'
Sequencing Primer
(F):5'- CCTGAATGCTACGATCCTAATAAAG -3'
(R):5'- TATGGGCAAAAGTCACACTAGC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation