Incidental Mutation 'IGL01610:Senp7'
ID |
91976 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Senp7
|
Ensembl Gene |
ENSMUSG00000052917 |
Gene Name |
SUMO1/sentrin specific peptidase 7 |
Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
IGL01610
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55996186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 755
(D755V)
|
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: D755V
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000086776 Gene: ENSMUSG00000052917 AA Change: D755V
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: D782V
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000086779 Gene: ENSMUSG00000052917 AA Change: D782V
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: ENSMUST00000202108
|
Coding Region Coverage |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018A14Rik |
T |
C |
18: 46,332,633 (GRCm39) |
|
probably benign |
Het |
4921524J17Rik |
T |
C |
8: 86,138,871 (GRCm39) |
I73V |
probably benign |
Het |
4930562C15Rik |
T |
A |
16: 4,669,429 (GRCm39) |
|
probably benign |
Het |
Abca15 |
T |
A |
7: 119,939,867 (GRCm39) |
V323D |
probably damaging |
Het |
Acot10 |
T |
C |
15: 20,665,781 (GRCm39) |
Y320C |
probably damaging |
Het |
Acp6 |
T |
A |
3: 97,083,036 (GRCm39) |
V349D |
possibly damaging |
Het |
Adcy9 |
G |
T |
16: 4,235,978 (GRCm39) |
Q478K |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,369,928 (GRCm39) |
I1843V |
possibly damaging |
Het |
Akap13 |
A |
T |
7: 75,397,353 (GRCm39) |
I2528F |
probably damaging |
Het |
Akap9 |
G |
A |
5: 4,082,839 (GRCm39) |
A1988T |
possibly damaging |
Het |
Alox5 |
C |
T |
6: 116,390,508 (GRCm39) |
V490M |
probably damaging |
Het |
Aspm |
C |
T |
1: 139,417,408 (GRCm39) |
R1537* |
probably null |
Het |
Bmf |
G |
A |
2: 118,379,639 (GRCm39) |
P46S |
probably benign |
Het |
Brf1 |
T |
A |
12: 112,951,703 (GRCm39) |
H92L |
probably benign |
Het |
Chchd1 |
A |
G |
14: 20,753,245 (GRCm39) |
N35S |
probably benign |
Het |
Cntnap3 |
C |
T |
13: 64,905,115 (GRCm39) |
G889S |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,924,906 (GRCm39) |
|
probably benign |
Het |
Crispld1 |
A |
G |
1: 17,816,949 (GRCm39) |
|
probably null |
Het |
Ddx27 |
T |
C |
2: 166,863,964 (GRCm39) |
|
probably benign |
Het |
Dennd1b |
A |
G |
1: 139,097,504 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
T |
C |
9: 64,814,166 (GRCm39) |
V1461A |
probably damaging |
Het |
Drc7 |
C |
T |
8: 95,804,430 (GRCm39) |
R843W |
probably damaging |
Het |
Dync2li1 |
A |
G |
17: 84,935,742 (GRCm39) |
E13G |
probably damaging |
Het |
Egf |
A |
G |
3: 129,499,909 (GRCm39) |
|
probably benign |
Het |
Hpse2 |
T |
C |
19: 43,373,228 (GRCm39) |
S134G |
probably benign |
Het |
Hydin |
A |
G |
8: 111,284,345 (GRCm39) |
T3206A |
probably benign |
Het |
Ier5l |
T |
A |
2: 30,363,966 (GRCm39) |
S20C |
probably damaging |
Het |
Il1r1 |
A |
G |
1: 40,341,560 (GRCm39) |
E324G |
probably benign |
Het |
Kdm4b |
C |
T |
17: 56,660,522 (GRCm39) |
|
probably benign |
Het |
Lztfl1 |
T |
A |
9: 123,529,156 (GRCm39) |
E298D |
probably benign |
Het |
Myo1b |
A |
T |
1: 51,815,405 (GRCm39) |
M647K |
probably damaging |
Het |
Or13a25 |
C |
T |
7: 140,247,584 (GRCm39) |
A128V |
probably damaging |
Het |
Or52z14 |
A |
T |
7: 103,253,274 (GRCm39) |
T138S |
probably benign |
Het |
Or5j1 |
G |
T |
2: 86,878,632 (GRCm39) |
|
probably benign |
Het |
Parvb |
A |
T |
15: 84,187,666 (GRCm39) |
K258M |
probably damaging |
Het |
Pcdhb11 |
T |
G |
18: 37,556,412 (GRCm39) |
S581A |
probably benign |
Het |
Pcnx2 |
C |
A |
8: 126,566,372 (GRCm39) |
A1024S |
possibly damaging |
Het |
Pde4a |
T |
C |
9: 21,122,646 (GRCm39) |
|
probably benign |
Het |
Pgr |
A |
T |
9: 8,903,692 (GRCm39) |
H571L |
possibly damaging |
Het |
Phf20 |
G |
T |
2: 156,144,809 (GRCm39) |
E806* |
probably null |
Het |
Pilra |
T |
A |
5: 137,833,803 (GRCm39) |
I85F |
probably damaging |
Het |
Pla2g2f |
C |
T |
4: 138,480,622 (GRCm39) |
V125M |
probably damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,318,705 (GRCm39) |
N708S |
probably benign |
Het |
Resf1 |
C |
T |
6: 149,230,449 (GRCm39) |
T1165M |
probably benign |
Het |
Rnase4 |
A |
T |
14: 51,342,378 (GRCm39) |
Y34F |
probably damaging |
Het |
Ropn1 |
A |
T |
16: 34,487,141 (GRCm39) |
I26F |
probably damaging |
Het |
Rpl9-ps6 |
T |
A |
19: 32,443,699 (GRCm39) |
T85S |
probably benign |
Het |
Scaf8 |
C |
T |
17: 3,246,124 (GRCm39) |
P738S |
probably damaging |
Het |
Sec31a |
A |
T |
5: 100,550,217 (GRCm39) |
|
probably benign |
Het |
Sel1l |
C |
T |
12: 91,784,064 (GRCm39) |
V459I |
probably damaging |
Het |
Serpinb9d |
A |
T |
13: 33,381,985 (GRCm39) |
K151N |
probably benign |
Het |
Slc8a3 |
A |
G |
12: 81,362,576 (GRCm39) |
F81S |
probably damaging |
Het |
Spire2 |
T |
A |
8: 124,083,502 (GRCm39) |
L162Q |
probably damaging |
Het |
Syt17 |
A |
G |
7: 118,033,216 (GRCm39) |
I264T |
possibly damaging |
Het |
Tbl3 |
A |
T |
17: 24,923,018 (GRCm39) |
V379D |
probably damaging |
Het |
Tenm3 |
A |
T |
8: 48,707,512 (GRCm39) |
L1762Q |
probably damaging |
Het |
Trerf1 |
A |
T |
17: 47,630,501 (GRCm39) |
|
noncoding transcript |
Het |
Ttc13 |
T |
C |
8: 125,403,083 (GRCm39) |
D552G |
probably damaging |
Het |
Tuba3a |
G |
T |
6: 125,255,529 (GRCm39) |
T382K |
possibly damaging |
Het |
Vmn1r210 |
A |
T |
13: 23,011,977 (GRCm39) |
V103E |
probably damaging |
Het |
Vmn1r80 |
A |
G |
7: 11,927,307 (GRCm39) |
H139R |
possibly damaging |
Het |
Xpo7 |
A |
T |
14: 70,940,670 (GRCm39) |
F141Y |
probably damaging |
Het |
Zfp143 |
T |
A |
7: 109,673,333 (GRCm39) |
Y143* |
probably null |
Het |
Zfp207 |
T |
A |
11: 80,276,796 (GRCm39) |
C26S |
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 |
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 |
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 |
|
Posted On |
2013-12-09 |