Incidental Mutation 'R7460:Senp7'
ID |
578421 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Senp7
|
Ensembl Gene |
ENSMUSG00000052917 |
Gene Name |
SUMO1/sentrin specific peptidase 7 |
Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
MMRRC Submission |
045534-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.296)
|
Stock # |
R7460 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55993545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 743
(T743A)
|
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: T716A
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000086776 Gene: ENSMUSG00000052917 AA Change: T716A
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: T743A
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000086779 Gene: ENSMUSG00000052917 AA Change: T743A
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 |
|
Meta Mutation Damage Score |
0.0797 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi2 |
T |
A |
1: 60,473,466 (GRCm39) |
V61D |
probably damaging |
Het |
Agrn |
C |
A |
4: 156,258,881 (GRCm39) |
V915L |
probably damaging |
Het |
Arhgap24 |
T |
C |
5: 103,040,212 (GRCm39) |
V476A |
probably benign |
Het |
Arhgef15 |
A |
G |
11: 68,837,861 (GRCm39) |
L720P |
probably damaging |
Het |
Atad2b |
C |
A |
12: 5,002,660 (GRCm39) |
R343S |
probably benign |
Het |
Atxn3 |
T |
A |
12: 101,892,776 (GRCm39) |
T313S |
probably benign |
Het |
BC051665 |
T |
C |
13: 60,932,457 (GRCm39) |
E76G |
probably benign |
Het |
Birc2 |
A |
T |
9: 7,818,762 (GRCm39) |
F610I |
probably damaging |
Het |
Cdh16 |
A |
T |
8: 105,348,923 (GRCm39) |
V58D |
possibly damaging |
Het |
Cenpf |
T |
C |
1: 189,386,247 (GRCm39) |
D2011G |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,585,275 (GRCm39) |
|
probably null |
Het |
Ddx1 |
A |
G |
12: 13,281,440 (GRCm39) |
|
probably null |
Het |
Disp2 |
A |
G |
2: 118,620,261 (GRCm39) |
H331R |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 50,011,679 (GRCm39) |
T1279A |
probably benign |
Het |
Dync1i2 |
T |
C |
2: 71,081,230 (GRCm39) |
I473T |
probably damaging |
Het |
Fam114a1 |
T |
G |
5: 65,196,050 (GRCm39) |
V520G |
possibly damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,169,789 (GRCm39) |
D2990V |
probably damaging |
Het |
Fbh1 |
C |
T |
2: 11,761,496 (GRCm39) |
G597D |
probably benign |
Het |
Fdxr |
A |
C |
11: 115,167,680 (GRCm39) |
S12A |
probably benign |
Het |
Fgf14 |
T |
A |
14: 124,914,105 (GRCm39) |
R9W |
possibly damaging |
Het |
Gnat3 |
A |
T |
5: 18,204,656 (GRCm39) |
D103V |
|
Het |
Hepacam2 |
G |
A |
6: 3,487,199 (GRCm39) |
P53S |
probably benign |
Het |
Inhca |
T |
C |
9: 103,131,847 (GRCm39) |
N625D |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,052,815 (GRCm39) |
T21A |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,074,013 (GRCm39) |
C930R |
|
Het |
Lrp1b |
T |
C |
2: 40,488,478 (GRCm39) |
T4536A |
|
Het |
Lrrc27 |
T |
A |
7: 138,803,574 (GRCm39) |
V166E |
probably damaging |
Het |
Mapk10 |
C |
T |
5: 103,186,443 (GRCm39) |
V90I |
probably benign |
Het |
Mfsd14b |
C |
T |
13: 65,219,837 (GRCm39) |
G339D |
probably damaging |
Het |
Mnt |
T |
A |
11: 74,734,109 (GRCm39) |
M580K |
unknown |
Het |
Mrc1 |
T |
C |
2: 14,253,680 (GRCm39) |
S234P |
probably damaging |
Het |
Mrps5 |
G |
A |
2: 127,433,811 (GRCm39) |
V75I |
not run |
Het |
Mrtfb |
G |
T |
16: 13,218,840 (GRCm39) |
Q495H |
probably benign |
Het |
Myo10 |
A |
G |
15: 25,807,913 (GRCm39) |
D1845G |
probably damaging |
Het |
Or3a1c |
A |
T |
11: 74,046,672 (GRCm39) |
I231F |
probably damaging |
Het |
Or51a25 |
A |
T |
7: 102,373,028 (GRCm39) |
M223K |
probably benign |
Het |
Or7a40 |
C |
A |
16: 16,491,030 (GRCm39) |
A272S |
possibly damaging |
Het |
Or8b3 |
T |
C |
9: 38,314,649 (GRCm39) |
S160P |
possibly damaging |
Het |
Pdhx |
G |
A |
2: 102,877,124 (GRCm39) |
T95M |
probably damaging |
Het |
Pigb |
C |
T |
9: 72,945,957 (GRCm39) |
V72I |
probably damaging |
Het |
Prr7 |
C |
A |
13: 55,620,166 (GRCm39) |
P110Q |
unknown |
Het |
Psg22 |
A |
G |
7: 18,458,329 (GRCm39) |
D340G |
probably benign |
Het |
Ptprn2 |
T |
C |
12: 117,212,301 (GRCm39) |
S908P |
probably benign |
Het |
Ros1 |
T |
C |
10: 51,994,299 (GRCm39) |
Y1348C |
probably damaging |
Het |
Rspry1 |
T |
C |
8: 95,376,963 (GRCm39) |
I506T |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,720,596 (GRCm39) |
Y2684F |
probably benign |
Het |
Sdr16c6 |
A |
G |
4: 4,076,575 (GRCm39) |
|
probably null |
Het |
Slc6a20b |
T |
C |
9: 123,434,014 (GRCm39) |
I275V |
probably benign |
Het |
Slc6a7 |
A |
G |
18: 61,134,674 (GRCm39) |
I467T |
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,226,363 (GRCm39) |
D1016G |
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,554,933 (GRCm39) |
V317A |
|
Het |
Tle3 |
A |
G |
9: 61,320,366 (GRCm39) |
H598R |
probably damaging |
Het |
Tmem102 |
A |
G |
11: 69,694,949 (GRCm39) |
L341P |
probably damaging |
Het |
Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
Trappc14 |
G |
A |
5: 138,260,991 (GRCm39) |
T218M |
probably benign |
Het |
Trhde |
T |
A |
10: 114,249,168 (GRCm39) |
D866V |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,581,617 (GRCm39) |
I23092T |
probably damaging |
Het |
U2surp |
C |
A |
9: 95,344,877 (GRCm39) |
V944L |
unknown |
Het |
Urgcp |
T |
C |
11: 5,666,622 (GRCm39) |
H615R |
possibly damaging |
Het |
Vps45 |
T |
A |
3: 95,955,699 (GRCm39) |
Y97F |
probably benign |
Het |
Zc3h12c |
T |
C |
9: 52,055,402 (GRCm39) |
T136A |
probably benign |
Het |
Zfp948 |
A |
T |
17: 21,808,677 (GRCm39) |
H623L |
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 |
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'- GGAGCATCAGGAAATCTTTGC -3'
(R):5'- GTCTGAATCTGAAATTTTGCCAGC -3'
Sequencing Primer
(F):5'- GAGCATCAGGAAATCTTTGCTTTATG -3'
(R):5'- AGCTAAAAGGCTGAGTGCTTTCC -3'
|
Posted On |
2019-10-07 |