Incidental Mutation 'R9657:Senp7'
ID |
727413 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Senp7
|
Ensembl Gene |
ENSMUSG00000052917 |
Gene Name |
SUMO1/sentrin specific peptidase 7 |
Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R9657 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 55944295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 206
(C206*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049128]
[ENSMUST00000089360]
[ENSMUST00000089362]
[ENSMUST00000201011]
[ENSMUST00000202000]
[ENSMUST00000202799]
|
AlphaFold |
Q8BUH8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000049128
AA Change: C206*
|
SMART Domains |
Protein: ENSMUSP00000043023 Gene: ENSMUSG00000052917 AA Change: C206*
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 null
Transcript: ENSMUST00000089360
AA Change: C179*
|
SMART Domains |
Protein: ENSMUSP00000086776 Gene: ENSMUSG00000052917 AA Change: C179*
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 null
Transcript: ENSMUST00000089362
AA Change: C206*
|
SMART Domains |
Protein: ENSMUSP00000086779 Gene: ENSMUSG00000052917 AA Change: C206*
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 null
Transcript: ENSMUST00000201011
AA Change: C179*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000202000
AA Change: C206*
|
SMART Domains |
Protein: ENSMUSP00000144116 Gene: ENSMUSG00000052917 AA Change: C206*
Domain | Start | End | E-Value | Type |
low complexity region
|
192 |
208 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000202799
AA Change: C179*
|
SMART Domains |
Protein: ENSMUSP00000144348 Gene: ENSMUSG00000052917 AA Change: C179*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,243,379 (GRCm39) |
D1747E |
probably benign |
Het |
Acad11 |
T |
A |
9: 103,953,035 (GRCm39) |
I88N |
possibly damaging |
Het |
Atp2b4 |
T |
C |
1: 133,656,478 (GRCm39) |
E724G |
probably damaging |
Het |
Bcl2a1b |
T |
C |
9: 89,081,599 (GRCm39) |
S63P |
probably damaging |
Het |
Blzf1 |
T |
C |
1: 164,134,023 (GRCm39) |
S9G |
probably benign |
Het |
Ccdc121rt1 |
T |
C |
1: 181,338,104 (GRCm39) |
T283A |
probably benign |
Het |
Cdh22 |
T |
C |
2: 164,965,715 (GRCm39) |
D488G |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,351,003 (GRCm39) |
E688G |
possibly damaging |
Het |
Cldn10 |
A |
C |
14: 119,025,781 (GRCm39) |
E71D |
probably benign |
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Cyp3a16 |
T |
C |
5: 145,386,979 (GRCm39) |
D337G |
probably null |
Het |
Dnah5 |
A |
T |
15: 28,410,089 (GRCm39) |
D3654V |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,339,429 (GRCm39) |
S100P |
possibly damaging |
Het |
Hdgfl2 |
T |
C |
17: 56,405,978 (GRCm39) |
V488A |
unknown |
Het |
Itih2 |
T |
C |
2: 10,107,686 (GRCm39) |
T627A |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,441,956 (GRCm39) |
S648G |
probably benign |
Het |
Klhl33 |
T |
C |
14: 51,134,117 (GRCm39) |
D144G |
probably benign |
Het |
Lca5l |
G |
A |
16: 95,974,953 (GRCm39) |
Q324* |
probably null |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Mical2 |
A |
G |
7: 111,921,806 (GRCm39) |
T542A |
probably benign |
Het |
Moxd1 |
T |
A |
10: 24,128,485 (GRCm39) |
V179E |
probably benign |
Het |
Myh7b |
A |
G |
2: 155,455,963 (GRCm39) |
Y116C |
probably damaging |
Het |
Myoc |
C |
T |
1: 162,467,229 (GRCm39) |
R133* |
probably null |
Het |
Nol3 |
A |
T |
8: 106,005,641 (GRCm39) |
I12F |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,352,377 (GRCm39) |
V605A |
probably benign |
Het |
Or5w13 |
T |
C |
2: 87,524,121 (GRCm39) |
Y35C |
probably damaging |
Het |
Or9m2 |
A |
C |
2: 87,821,310 (GRCm39) |
N285T |
probably damaging |
Het |
Pag1 |
G |
T |
3: 9,769,791 (GRCm39) |
S52R |
probably damaging |
Het |
Pbxip1 |
A |
G |
3: 89,355,056 (GRCm39) |
D525G |
probably benign |
Het |
Pla2g4f |
A |
G |
2: 120,135,138 (GRCm39) |
F437L |
probably benign |
Het |
Podn |
A |
C |
4: 107,884,231 (GRCm39) |
I86S |
probably damaging |
Het |
Postn |
A |
G |
3: 54,290,820 (GRCm39) |
T676A |
probably benign |
Het |
Ppp1r1c |
A |
G |
2: 79,638,718 (GRCm39) |
E104G |
probably benign |
Het |
Prss53 |
T |
C |
7: 127,486,238 (GRCm39) |
T436A |
probably damaging |
Het |
Psme4 |
A |
T |
11: 30,788,980 (GRCm39) |
E1127D |
probably benign |
Het |
Ptpn18 |
C |
A |
1: 34,512,473 (GRCm39) |
A426E |
possibly damaging |
Het |
Ptprz1 |
T |
G |
6: 23,042,377 (GRCm39) |
C2044G |
possibly damaging |
Het |
Rad54l2 |
C |
A |
9: 106,581,372 (GRCm39) |
V850L |
probably damaging |
Het |
Ranbp9 |
A |
G |
13: 43,557,155 (GRCm39) |
I28T |
unknown |
Het |
Rapgef2 |
A |
T |
3: 78,999,191 (GRCm39) |
V527E |
probably damaging |
Het |
Rere |
C |
A |
4: 150,699,390 (GRCm39) |
P825T |
unknown |
Het |
Rundc3a |
A |
G |
11: 102,291,578 (GRCm39) |
T349A |
probably benign |
Het |
Scn2a |
T |
C |
2: 65,566,032 (GRCm39) |
F1352S |
probably damaging |
Het |
Serac1 |
C |
T |
17: 6,119,658 (GRCm39) |
V91I |
probably benign |
Het |
Serpina1f |
G |
A |
12: 103,656,050 (GRCm39) |
Q393* |
probably null |
Het |
Slc8a1 |
T |
C |
17: 81,955,244 (GRCm39) |
E598G |
probably damaging |
Het |
Slmap |
A |
T |
14: 26,151,013 (GRCm39) |
H518Q |
probably benign |
Het |
Spg11 |
G |
A |
2: 121,910,781 (GRCm39) |
R1199C |
probably damaging |
Het |
Tada1 |
T |
C |
1: 166,214,312 (GRCm39) |
S104P |
possibly damaging |
Het |
Tbck |
A |
G |
3: 132,421,451 (GRCm39) |
D186G |
probably damaging |
Het |
Tdrd9 |
A |
C |
12: 112,002,824 (GRCm39) |
R824S |
possibly damaging |
Het |
Tmem161a |
T |
C |
8: 70,630,260 (GRCm39) |
|
probably null |
Het |
Trim55 |
G |
A |
3: 19,728,671 (GRCm39) |
G494D |
possibly damaging |
Het |
Ttc17 |
T |
A |
2: 94,237,010 (GRCm39) |
M1L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Ugt3a1 |
A |
C |
15: 9,280,133 (GRCm39) |
S32R |
probably damaging |
Het |
Vgll3 |
T |
C |
16: 65,636,343 (GRCm39) |
S220P |
probably benign |
Het |
Virma |
A |
G |
4: 11,544,898 (GRCm39) |
E1569G |
probably damaging |
Het |
Vmn1r54 |
C |
G |
6: 90,246,984 (GRCm39) |
F299L |
probably benign |
Het |
Vmn2r114 |
A |
G |
17: 23,510,690 (GRCm39) |
S597P |
probably damaging |
Het |
Wdr7 |
A |
G |
18: 64,057,918 (GRCm39) |
D1249G |
probably damaging |
Het |
Wdr97 |
A |
G |
15: 76,245,476 (GRCm39) |
Y1271C |
|
Het |
Yju2b |
T |
C |
8: 84,987,084 (GRCm39) |
K138E |
possibly damaging |
Het |
Ypel4 |
A |
G |
2: 84,568,068 (GRCm39) |
Y108C |
probably damaging |
Het |
Zfp770 |
A |
G |
2: 114,027,766 (GRCm39) |
V101A |
probably damaging |
Het |
Zfyve9 |
A |
T |
4: 108,575,729 (GRCm39) |
C451S |
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 |
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 |
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'- CTCCCCTGCATGAAAACTCTAG -3'
(R):5'- GCTGCTTCCAAAAGACATCC -3'
Sequencing Primer
(F):5'- CTGCATGAAAACTCTAGTACAGTAC -3'
(R):5'- TGCTTCCAAAAGACATCCTATGGG -3'
|
Posted On |
2022-10-06 |