Incidental Mutation 'R9727:Senp7'
ID |
731123 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Senp7
|
Ensembl Gene |
ENSMUSG00000052917 |
Gene Name |
SUMO1/sentrin specific peptidase 7 |
Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R9727 (G1)
|
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 T
at 55990169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 639
(H639L)
|
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: H612L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000086776 Gene: ENSMUSG00000052917 AA Change: H612L
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: H639L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000086779 Gene: ENSMUSG00000052917 AA Change: H639L
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akirin2 |
A |
G |
4: 34,565,248 (GRCm39) |
Y165C |
probably damaging |
Het |
Aox4 |
A |
G |
1: 58,286,473 (GRCm39) |
I702V |
probably benign |
Het |
Arhgef33 |
A |
G |
17: 80,678,720 (GRCm39) |
Y472C |
probably damaging |
Het |
Atp13a4 |
T |
G |
16: 29,228,589 (GRCm39) |
S964R |
|
Het |
Atp1a2 |
T |
A |
1: 172,118,936 (GRCm39) |
I69F |
probably benign |
Het |
Bub1 |
T |
C |
2: 127,652,609 (GRCm39) |
D586G |
possibly damaging |
Het |
Ccdc177 |
C |
A |
12: 80,806,044 (GRCm39) |
A77S |
probably benign |
Het |
Ccdc187 |
A |
G |
2: 26,171,204 (GRCm39) |
W425R |
probably damaging |
Het |
Ccn2 |
A |
G |
10: 24,471,820 (GRCm39) |
E37G |
probably benign |
Het |
Ccsap |
T |
C |
8: 124,572,169 (GRCm39) |
D111G |
possibly damaging |
Het |
Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
Ceacam3 |
C |
A |
7: 16,892,262 (GRCm39) |
T335K |
|
Het |
Col22a1 |
A |
T |
15: 71,849,123 (GRCm39) |
W322R |
probably damaging |
Het |
Col5a2 |
A |
G |
1: 45,415,818 (GRCm39) |
V1443A |
possibly damaging |
Het |
Dnah12 |
C |
T |
14: 26,523,510 (GRCm39) |
Q2000* |
probably null |
Het |
Dock7 |
G |
T |
4: 98,875,568 (GRCm39) |
T1154K |
unknown |
Het |
Dot1l |
T |
C |
10: 80,628,382 (GRCm39) |
L1140P |
unknown |
Het |
Dst |
G |
A |
1: 34,314,877 (GRCm39) |
V4489M |
probably damaging |
Het |
Duox2 |
G |
A |
2: 122,116,998 (GRCm39) |
R960* |
probably null |
Het |
Elavl2 |
T |
C |
4: 91,169,495 (GRCm39) |
I97V |
probably benign |
Het |
Emp1 |
G |
T |
6: 135,358,016 (GRCm39) |
A121S |
probably benign |
Het |
Exph5 |
A |
T |
9: 53,287,702 (GRCm39) |
R1594S |
probably damaging |
Het |
Fam186b |
C |
T |
15: 99,171,669 (GRCm39) |
M859I |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,159,137 (GRCm39) |
V3345A |
probably damaging |
Het |
Gtf2f1 |
A |
T |
17: 57,318,005 (GRCm39) |
N10K |
possibly damaging |
Het |
Hid1 |
T |
G |
11: 115,245,939 (GRCm39) |
K384N |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,674,566 (GRCm39) |
R579G |
probably benign |
Het |
Igf1r |
T |
A |
7: 67,857,554 (GRCm39) |
V1078D |
probably damaging |
Het |
Il20rb |
A |
T |
9: 100,357,001 (GRCm39) |
M43K |
probably damaging |
Het |
Kdm3a |
A |
T |
6: 71,569,094 (GRCm39) |
Y1134* |
probably null |
Het |
Kif12 |
T |
A |
4: 63,085,978 (GRCm39) |
N429I |
probably damaging |
Het |
Kif18a |
C |
T |
2: 109,118,464 (GRCm39) |
T93I |
probably damaging |
Het |
Krtap9-5 |
T |
A |
11: 99,839,340 (GRCm39) |
C14S |
possibly damaging |
Het |
Lgals8 |
A |
T |
13: 12,462,038 (GRCm39) |
M264K |
possibly damaging |
Het |
Mlxipl |
T |
A |
5: 135,150,388 (GRCm39) |
C143* |
probably null |
Het |
Mtcl2 |
T |
A |
2: 156,862,168 (GRCm39) |
Q1587L |
possibly damaging |
Het |
Mvp |
A |
T |
7: 126,595,040 (GRCm39) |
H268Q |
probably damaging |
Het |
Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
Nos2 |
A |
G |
11: 78,843,825 (GRCm39) |
Y924C |
possibly damaging |
Het |
Or4f52 |
A |
T |
2: 111,061,961 (GRCm39) |
M59K |
probably damaging |
Het |
Phf20l1 |
A |
G |
15: 66,487,231 (GRCm39) |
N449S |
probably benign |
Het |
Pot1b |
A |
C |
17: 55,999,795 (GRCm39) |
I210S |
possibly damaging |
Het |
Ptrh1 |
T |
A |
2: 32,665,854 (GRCm39) |
W5R |
probably benign |
Het |
Rasgrp3 |
A |
G |
17: 75,810,239 (GRCm39) |
H313R |
probably damaging |
Het |
Ric1 |
A |
T |
19: 29,575,258 (GRCm39) |
I984F |
probably damaging |
Het |
Rin2 |
G |
A |
2: 145,702,506 (GRCm39) |
A401T |
possibly damaging |
Het |
Rmdn3 |
C |
A |
2: 118,968,827 (GRCm39) |
|
probably null |
Het |
Sipa1l1 |
T |
C |
12: 82,471,829 (GRCm39) |
S1270P |
probably damaging |
Het |
Slc22a28 |
T |
A |
19: 8,108,818 (GRCm39) |
E108V |
probably benign |
Het |
Slc7a5 |
A |
G |
8: 122,613,085 (GRCm39) |
I331T |
probably benign |
Het |
Smarca4 |
T |
C |
9: 21,611,160 (GRCm39) |
Y1467H |
probably damaging |
Het |
Srebf2 |
T |
A |
15: 82,076,506 (GRCm39) |
F759I |
possibly damaging |
Het |
Thumpd2 |
A |
T |
17: 81,345,585 (GRCm39) |
D304E |
probably damaging |
Het |
Tmem59 |
A |
G |
4: 107,050,547 (GRCm39) |
E226G |
probably benign |
Het |
Trpv1 |
A |
C |
11: 73,130,347 (GRCm39) |
D151A |
probably damaging |
Het |
Txnrd3 |
A |
G |
6: 89,651,751 (GRCm39) |
D607G |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,140,735 (GRCm39) |
V1218E |
probably damaging |
Het |
Ugt2b5 |
T |
A |
5: 87,288,165 (GRCm39) |
M1L |
probably damaging |
Het |
Vwa5b2 |
C |
T |
16: 20,423,477 (GRCm39) |
A1130V |
probably damaging |
Het |
Wdr4 |
T |
C |
17: 31,718,045 (GRCm39) |
E343G |
probably benign |
Het |
Zbtb34 |
C |
A |
2: 33,301,533 (GRCm39) |
R336L |
probably benign |
Het |
Zfp607b |
T |
C |
7: 27,403,125 (GRCm39) |
V527A |
probably benign |
Het |
Zfp949 |
T |
A |
9: 88,451,913 (GRCm39) |
C494* |
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 |
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 |
U24488:Senp7
|
UTSW |
16 |
56,005,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCAGTGAGGTAGAATAGGAGCC -3'
(R):5'- CAGCAAAGCAGCTTTTACCTC -3'
Sequencing Primer
(F):5'- AGGAGCCTAAAAATTGTGATTTTGGG -3'
(R):5'- AGCAAAGCAGCTTTTACCTCTCTAC -3'
|
Posted On |
2022-10-06 |