Incidental Mutation 'R7480:Senp7'
| ID |
579766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp7
|
| Ensembl Gene |
ENSMUSG00000052917 |
| Gene Name |
SUMO1/sentrin specific peptidase 7 |
| Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
| MMRRC Submission |
045554-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R7480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55975589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 432
(V432I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089360]
[ENSMUST00000089362]
|
| AlphaFold |
Q8BUH8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089360
AA Change: V405I
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: V405I
| 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: V432I
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: V432I
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg9 |
T |
G |
9: 50,733,928 (GRCm39) |
M542R |
probably benign |
Het |
| Apol10b |
G |
T |
15: 77,472,988 (GRCm39) |
A22D |
probably benign |
Het |
| Arhgap45 |
T |
A |
10: 79,862,936 (GRCm39) |
L704* |
probably null |
Het |
| Bicc1 |
T |
C |
10: 70,779,306 (GRCm39) |
D694G |
probably damaging |
Het |
| C1ql3 |
A |
T |
2: 13,015,150 (GRCm39) |
I170N |
probably damaging |
Het |
| Casz1 |
T |
C |
4: 149,029,043 (GRCm39) |
F1163L |
probably damaging |
Het |
| Ces2f |
A |
G |
8: 105,681,338 (GRCm39) |
K559R |
possibly damaging |
Het |
| Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
| Cr2 |
C |
T |
1: 194,836,484 (GRCm39) |
C893Y |
probably damaging |
Het |
| Csf1r |
T |
G |
18: 61,250,610 (GRCm39) |
D440E |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,848,738 (GRCm39) |
M666K |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,905,311 (GRCm39) |
D1007G |
probably benign |
Het |
| Dlk1 |
T |
A |
12: 109,421,540 (GRCm39) |
C85S |
probably damaging |
Het |
| Epb41l3 |
A |
C |
17: 69,568,867 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
A |
7: 119,385,734 (GRCm39) |
R256* |
probably null |
Het |
| Fshr |
A |
C |
17: 89,292,802 (GRCm39) |
Y625* |
probably null |
Het |
| Galk2 |
A |
G |
2: 125,788,845 (GRCm39) |
I300V |
probably benign |
Het |
| Garin1a |
G |
A |
6: 29,281,435 (GRCm39) |
|
probably null |
Het |
| Gm3409 |
T |
A |
5: 146,476,311 (GRCm39) |
V154E |
probably damaging |
Het |
| Gm7356 |
A |
G |
17: 14,221,327 (GRCm39) |
I234T |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,241,713 (GRCm39) |
Y1995C |
probably benign |
Het |
| Herc6 |
C |
T |
6: 57,558,206 (GRCm39) |
T62I |
possibly damaging |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,552,985 (GRCm39) |
|
probably null |
Het |
| Iqca1l |
T |
G |
5: 24,751,904 (GRCm39) |
E498A |
probably damaging |
Het |
| Jrk |
G |
T |
15: 74,578,902 (GRCm39) |
P128T |
probably benign |
Het |
| Kctd14 |
T |
C |
7: 97,107,431 (GRCm39) |
F229L |
probably benign |
Het |
| Kif27 |
A |
T |
13: 58,436,025 (GRCm39) |
V1256E |
probably benign |
Het |
| Klk13 |
T |
C |
7: 43,370,846 (GRCm39) |
S133P |
probably benign |
Het |
| Mpzl1 |
A |
G |
1: 165,432,257 (GRCm39) |
V176A |
possibly damaging |
Het |
| Mxi1 |
A |
G |
19: 53,360,066 (GRCm39) |
T263A |
possibly damaging |
Het |
| Nfxl1 |
C |
T |
5: 72,716,595 (GRCm39) |
W5* |
probably null |
Het |
| Nt5dc1 |
C |
T |
10: 34,200,450 (GRCm39) |
G190R |
probably damaging |
Het |
| Nt5dc1 |
C |
A |
10: 34,200,449 (GRCm39) |
G190V |
probably damaging |
Het |
| Oprd1 |
A |
G |
4: 131,844,492 (GRCm39) |
I172T |
possibly damaging |
Het |
| Or1f19 |
A |
T |
16: 3,410,493 (GRCm39) |
T78S |
probably benign |
Het |
| Or4k38 |
A |
G |
2: 111,165,737 (GRCm39) |
S229P |
probably benign |
Het |
| Or6f1 |
A |
G |
7: 85,970,888 (GRCm39) |
S91P |
probably benign |
Het |
| Or7e173 |
C |
T |
9: 19,939,230 (GRCm39) |
M1I |
probably null |
Het |
| Pafah1b1 |
A |
C |
11: 74,576,740 (GRCm39) |
C184G |
probably damaging |
Het |
| Pde5a |
A |
T |
3: 122,596,797 (GRCm39) |
N495Y |
possibly damaging |
Het |
| Piezo1 |
A |
T |
8: 123,225,234 (GRCm39) |
Y588* |
probably null |
Het |
| Plekha7 |
A |
T |
7: 115,736,403 (GRCm39) |
|
probably null |
Het |
| Pramel11 |
T |
C |
4: 143,622,065 (GRCm39) |
D430G |
probably benign |
Het |
| Prdm11 |
T |
C |
2: 92,805,669 (GRCm39) |
K427R |
probably benign |
Het |
| Rai14 |
C |
A |
15: 10,571,622 (GRCm39) |
E940D |
probably benign |
Het |
| Rasl11b |
T |
A |
5: 74,358,771 (GRCm39) |
V92E |
possibly damaging |
Het |
| Rassf8 |
T |
A |
6: 145,765,757 (GRCm39) |
I29K |
unknown |
Het |
| Reg3a |
C |
T |
6: 78,359,330 (GRCm39) |
T110I |
probably damaging |
Het |
| Scaf1 |
C |
T |
7: 44,657,073 (GRCm39) |
G602D |
unknown |
Het |
| Senp6 |
T |
C |
9: 80,029,199 (GRCm39) |
C521R |
probably damaging |
Het |
| Skint8 |
A |
T |
4: 111,785,784 (GRCm39) |
R77* |
probably null |
Het |
| Slamf9 |
G |
A |
1: 172,305,040 (GRCm39) |
C218Y |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,956,649 (GRCm39) |
T130A |
probably damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,678,574 (GRCm39) |
I126V |
possibly damaging |
Het |
| Taar9 |
T |
A |
10: 23,984,843 (GRCm39) |
N197I |
possibly damaging |
Het |
| Tango6 |
A |
T |
8: 107,423,359 (GRCm39) |
D378V |
possibly damaging |
Het |
| Tfb2m |
A |
G |
1: 179,356,747 (GRCm39) |
F396L |
probably benign |
Het |
| Thbs4 |
G |
A |
13: 92,903,729 (GRCm39) |
P429L |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,934,747 (GRCm39) |
D2452G |
probably damaging |
Het |
| Ulk3 |
C |
T |
9: 57,498,523 (GRCm39) |
R131* |
probably null |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,558 (GRCm39) |
R250* |
probably null |
Het |
| Vmn1r54 |
A |
G |
6: 90,246,160 (GRCm39) |
I25V |
possibly damaging |
Het |
| Wnt7a |
C |
A |
6: 91,371,395 (GRCm39) |
R189L |
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,237,043 (GRCm39) |
D210G |
probably benign |
Het |
| Xpo6 |
G |
A |
7: 125,701,505 (GRCm39) |
R1112* |
probably null |
Het |
| Zfp114 |
T |
A |
7: 23,881,307 (GRCm39) |
V552D |
probably damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
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'- TGTAAGACCATAGGAAGCTGC -3'
(R):5'- TCCCTGCTACCCTATGAAGAGG -3'
Sequencing Primer
(F):5'- GGAAGCTGCTGTATAATAATGCTC -3'
(R):5'- CTGCTACCCTATGAAGAGGCAGAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation