Incidental Mutation 'U24488:Senp7'
ID |
509906 |
Institutional Source |
Beutler Lab
|
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 # |
U24488 (G0')
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56005182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 912
(N912D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089360]
[ENSMUST00000089362]
|
AlphaFold |
Q8BUH8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089360
AA Change: N912D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000086776 Gene: ENSMUSG00000052917 AA Change: N912D
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: N939D
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000086779 Gene: ENSMUSG00000052917 AA Change: N939D
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.0%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd36 |
A |
G |
11: 5,580,772 (GRCm39) |
Y922C |
probably damaging |
Het |
Arhgef40 |
A |
G |
14: 52,235,673 (GRCm39) |
T1185A |
probably benign |
Het |
Atf7ip2 |
A |
G |
16: 10,022,537 (GRCm39) |
N72S |
probably damaging |
Het |
Carmil3 |
A |
G |
14: 55,734,636 (GRCm39) |
D455G |
probably benign |
Het |
Ccdc171 |
A |
T |
4: 83,579,954 (GRCm39) |
E567V |
probably damaging |
Het |
Chmp1b |
T |
A |
18: 67,338,945 (GRCm39) |
L125Q |
probably damaging |
Het |
Cnr1 |
T |
A |
4: 33,944,927 (GRCm39) |
N438K |
probably benign |
Het |
Cplane1 |
G |
T |
15: 8,211,694 (GRCm39) |
G345C |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,573,795 (GRCm39) |
T2091M |
probably damaging |
Het |
Cyp4a29 |
A |
T |
4: 115,108,204 (GRCm39) |
H342L |
possibly damaging |
Het |
Dnah10 |
G |
A |
5: 124,891,044 (GRCm39) |
D3212N |
probably damaging |
Het |
Dnah2 |
G |
A |
11: 69,374,648 (GRCm39) |
T1447I |
probably damaging |
Het |
F11 |
A |
G |
8: 45,695,349 (GRCm39) |
S540P |
probably benign |
Het |
Fcrl6 |
T |
A |
1: 172,426,437 (GRCm39) |
H120L |
probably damaging |
Het |
Frmd6 |
T |
C |
12: 70,940,653 (GRCm39) |
S433P |
probably damaging |
Het |
Fundc1 |
G |
T |
X: 17,434,342 (GRCm39) |
A64E |
probably damaging |
Het |
Garin2 |
A |
T |
12: 78,761,811 (GRCm39) |
K158N |
probably damaging |
Het |
Grid1 |
A |
G |
14: 35,302,534 (GRCm39) |
E933G |
probably benign |
Het |
Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
Hoxb3 |
C |
A |
11: 96,235,456 (GRCm39) |
Q128K |
probably benign |
Het |
Il6st |
C |
T |
13: 112,631,168 (GRCm39) |
T369M |
possibly damaging |
Het |
Itk |
A |
C |
11: 46,228,971 (GRCm39) |
M403R |
probably damaging |
Het |
Katnip |
A |
T |
7: 125,369,853 (GRCm39) |
D147V |
probably damaging |
Het |
Kif2c |
T |
C |
4: 117,039,639 (GRCm39) |
Q17R |
probably benign |
Het |
Kifap3 |
T |
C |
1: 163,610,604 (GRCm39) |
I28T |
possibly damaging |
Het |
Kit |
A |
T |
5: 75,783,674 (GRCm39) |
R384* |
probably null |
Het |
Ksr1 |
T |
A |
11: 78,938,267 (GRCm39) |
I42F |
probably damaging |
Het |
Lhcgr |
T |
A |
17: 89,079,513 (GRCm39) |
|
probably null |
Het |
Lrrc36 |
C |
T |
8: 106,176,384 (GRCm39) |
H253Y |
probably benign |
Het |
Mad1l1 |
T |
A |
5: 140,300,840 (GRCm39) |
N19Y |
probably damaging |
Het |
Marf1 |
A |
T |
16: 13,950,230 (GRCm39) |
L1022* |
probably null |
Het |
Mical3 |
T |
G |
6: 120,978,457 (GRCm39) |
Q225P |
possibly damaging |
Het |
Minar1 |
C |
A |
9: 89,485,100 (GRCm39) |
G99V |
probably damaging |
Het |
Myt1l |
T |
A |
12: 29,876,895 (GRCm39) |
M182K |
unknown |
Het |
Nepro |
A |
G |
16: 44,554,949 (GRCm39) |
T342A |
probably benign |
Het |
Nlrp5 |
A |
T |
7: 23,117,653 (GRCm39) |
D459V |
possibly damaging |
Het |
Nrcam |
C |
T |
12: 44,584,042 (GRCm39) |
P39S |
probably damaging |
Het |
Or2ag1b |
A |
T |
7: 106,288,296 (GRCm39) |
I214N |
probably damaging |
Het |
Ostm1 |
A |
G |
10: 42,555,227 (GRCm39) |
D83G |
possibly damaging |
Het |
Otoa |
A |
T |
7: 120,717,763 (GRCm39) |
|
probably null |
Het |
Pi4ka |
A |
G |
16: 17,143,040 (GRCm39) |
I824T |
probably damaging |
Het |
Plec |
C |
T |
15: 76,061,930 (GRCm39) |
R2534H |
probably benign |
Het |
Plin2 |
A |
G |
4: 86,580,314 (GRCm39) |
V60A |
probably damaging |
Het |
Rps6ka4 |
A |
G |
19: 6,809,724 (GRCm39) |
L367P |
probably damaging |
Het |
Slc25a21 |
G |
T |
12: 56,785,282 (GRCm39) |
N198K |
possibly damaging |
Het |
Slc4a10 |
A |
G |
2: 61,877,002 (GRCm39) |
D5G |
probably benign |
Het |
Tex16 |
T |
C |
X: 111,028,815 (GRCm39) |
V438A |
probably benign |
Het |
Tmem37 |
T |
C |
1: 119,995,684 (GRCm39) |
Y131C |
probably benign |
Het |
Top2a |
A |
C |
11: 98,913,252 (GRCm39) |
M60R |
probably damaging |
Het |
Ush2a |
C |
T |
1: 188,162,963 (GRCm39) |
T1015I |
probably damaging |
Het |
Vmn1r172 |
A |
T |
7: 23,359,171 (GRCm39) |
I19F |
probably benign |
Het |
Vmn1r230 |
A |
C |
17: 21,067,014 (GRCm39) |
I68L |
probably benign |
Het |
Vmn2r45 |
A |
C |
7: 8,475,361 (GRCm39) |
C556G |
probably damaging |
Het |
Vmn2r54 |
A |
G |
7: 12,349,356 (GRCm39) |
I742T |
possibly damaging |
Het |
Vps13c |
A |
G |
9: 67,813,198 (GRCm39) |
K960E |
probably benign |
Het |
Wdcp |
T |
A |
12: 4,900,405 (GRCm39) |
V87E |
probably damaging |
Het |
Wiz |
C |
T |
17: 32,606,649 (GRCm39) |
E29K |
probably damaging |
Het |
Wnk3 |
C |
T |
X: 149,992,456 (GRCm39) |
T298I |
probably damaging |
Het |
Yif1b |
A |
C |
7: 28,943,594 (GRCm39) |
Q56P |
probably benign |
Het |
Zbtb25 |
A |
G |
12: 76,396,014 (GRCm39) |
W403R |
probably benign |
Het |
Zcrb1 |
A |
T |
15: 93,285,515 (GRCm39) |
S155R |
probably damaging |
Het |
Zmym4 |
A |
T |
4: 126,819,453 (GRCm39) |
I150K |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGCTTTTGGGAATCGGTTC -3'
(R):5'- ACACTGCCTCTGAGTGTTGG -3'
Sequencing Primer
(F):5'- CCATGAGACTTAGAGGCAATTACCTG -3'
(R):5'- GGACTGTAGGACAATTTTGCTACCC -3'
|
Posted On |
2018-04-02 |