Incidental Mutation 'R5390:Senp7'
ID |
425539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Senp7
|
Ensembl Gene |
ENSMUSG00000052917 |
Gene Name |
SUMO1/sentrin specific peptidase 7 |
Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
MMRRC Submission |
042962-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R5390 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55990279 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 676
(T676A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089360]
[ENSMUST00000089362]
|
AlphaFold |
Q8BUH8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089360
AA Change: T649A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000086776 Gene: ENSMUSG00000052917 AA Change: T649A
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 benign
Transcript: ENSMUST00000089362
AA Change: T676A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000086779 Gene: ENSMUSG00000052917 AA Change: T676A
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5830454E08Rik |
T |
C |
9: 120,406,772 (GRCm39) |
|
probably benign |
Het |
Anxa4 |
G |
A |
6: 86,730,865 (GRCm39) |
T104M |
probably damaging |
Het |
BC048562 |
G |
T |
9: 108,313,777 (GRCm39) |
W9L |
probably damaging |
Het |
Cachd1 |
T |
A |
4: 100,838,203 (GRCm39) |
M822K |
probably damaging |
Het |
Clec4g |
C |
A |
8: 3,768,441 (GRCm39) |
V97L |
probably benign |
Het |
Ddx19a |
G |
A |
8: 111,707,263 (GRCm39) |
Q176* |
probably null |
Het |
Eml6 |
T |
C |
11: 29,710,096 (GRCm39) |
H1413R |
probably damaging |
Het |
Fam161b |
C |
T |
12: 84,395,408 (GRCm39) |
V512M |
probably damaging |
Het |
Glcci1 |
A |
T |
6: 8,537,835 (GRCm39) |
Q151L |
probably benign |
Het |
Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Gpnmb |
A |
T |
6: 49,024,775 (GRCm39) |
D269V |
probably damaging |
Het |
Gpx3 |
A |
T |
11: 54,800,375 (GRCm39) |
D191V |
probably damaging |
Het |
Grm4 |
C |
T |
17: 27,653,712 (GRCm39) |
C491Y |
probably damaging |
Het |
H2-M10.4 |
T |
A |
17: 36,771,533 (GRCm39) |
H215L |
probably damaging |
Het |
Hrc |
T |
A |
7: 44,984,909 (GRCm39) |
L20Q |
probably damaging |
Het |
Hsd17b6 |
T |
A |
10: 127,827,308 (GRCm39) |
M255L |
probably benign |
Het |
Hydin |
A |
T |
8: 111,322,099 (GRCm39) |
I4584L |
probably benign |
Het |
Ift70a2 |
A |
T |
2: 75,807,630 (GRCm39) |
L294Q |
probably damaging |
Het |
Ints5 |
T |
A |
19: 8,873,931 (GRCm39) |
I630K |
possibly damaging |
Het |
Kctd10 |
A |
G |
5: 114,503,764 (GRCm39) |
I296T |
possibly damaging |
Het |
Ltv1 |
G |
A |
10: 13,058,103 (GRCm39) |
R234C |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,365,546 (GRCm39) |
S1507P |
probably damaging |
Het |
Megf8 |
G |
A |
7: 25,039,714 (GRCm39) |
G936D |
possibly damaging |
Het |
Ms4a4d |
T |
C |
19: 11,526,004 (GRCm39) |
|
probably null |
Het |
Net1 |
C |
T |
13: 3,943,379 (GRCm39) |
A3T |
probably benign |
Het |
Nlrp2 |
T |
C |
7: 5,303,908 (GRCm39) |
M206V |
probably benign |
Het |
Or1j1 |
C |
T |
2: 36,702,444 (GRCm39) |
R220H |
probably benign |
Het |
Or5an1b |
T |
A |
19: 12,299,505 (GRCm39) |
I229F |
probably damaging |
Het |
Pcyox1l |
T |
C |
18: 61,832,433 (GRCm39) |
I205V |
probably benign |
Het |
Pigo |
A |
G |
4: 43,019,645 (GRCm39) |
|
probably null |
Het |
Pla2g6 |
A |
T |
15: 79,173,893 (GRCm39) |
S590T |
possibly damaging |
Het |
Pwp2 |
T |
C |
10: 78,013,605 (GRCm39) |
T539A |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,473,079 (GRCm39) |
T688A |
probably benign |
Het |
Slc26a6 |
T |
C |
9: 108,738,499 (GRCm39) |
|
probably benign |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,272,778 (GRCm39) |
H653R |
probably damaging |
Het |
Stk3 |
T |
A |
15: 35,114,706 (GRCm39) |
K67* |
probably null |
Het |
Tctn2 |
A |
ACC |
5: 124,762,400 (GRCm39) |
|
probably benign |
Homo |
Ttn |
T |
C |
2: 76,540,395 (GRCm39) |
Y34197C |
probably damaging |
Het |
Ufc1 |
A |
C |
1: 171,117,746 (GRCm39) |
L56R |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,394,202 (GRCm39) |
|
probably null |
Het |
Vnn3 |
T |
A |
10: 23,727,483 (GRCm39) |
M1K |
probably null |
Het |
Zfp653 |
C |
A |
9: 21,969,099 (GRCm39) |
|
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 |
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'- AACAGTTCCATTTCACAAAGAGAAGAA -3'
(R):5'- ACCTTTCCCACCAAAACCCTTTG -3'
Sequencing Primer
(F):5'- GGCACTTCCTTTGTTTCAG -3'
(R):5'- GCATTCAAGACTTTGGCCAG -3'
|
Posted On |
2016-08-04 |