Incidental Mutation 'R9718:Senp7'
| ID |
730635 |
| 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 # |
R9718 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55944277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 200
(D200E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049128]
[ENSMUST00000089360]
[ENSMUST00000089362]
[ENSMUST00000201011]
[ENSMUST00000202000]
[ENSMUST00000202799]
|
| AlphaFold |
Q8BUH8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049128
AA Change: D200E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043023
Gene: ENSMUSG00000052917
AA Change: D200E
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
86 |
118 |
1.08e-5 |
PROSPERO |
|
internal_repeat_1
|
152 |
184 |
1.08e-5 |
PROSPERO |
|
low complexity region
|
192 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
233 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089360
AA Change: D173E
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: D173E
| 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: D200E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: D200E
| 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 |
probably damaging
Transcript: ENSMUST00000201011
AA Change: D173E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202000
AA Change: D200E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144116
Gene: ENSMUSG00000052917
AA Change: D200E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
192 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202799
AA Change: D173E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144348
Gene: ENSMUSG00000052917
AA Change: D173E
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
59 |
91 |
2.07e-5 |
PROSPERO |
|
internal_repeat_1
|
125 |
157 |
2.07e-5 |
PROSPERO |
|
low complexity region
|
165 |
181 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
A |
C |
2: 32,465,247 (GRCm39) |
|
probably benign |
Het |
| Acvr1c |
A |
T |
2: 58,206,007 (GRCm39) |
D34E |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,603 (GRCm39) |
V455A |
probably damaging |
Het |
| Cbfa2t3 |
T |
A |
8: 123,364,936 (GRCm39) |
D282V |
probably benign |
Het |
| Ccl9 |
T |
A |
11: 83,466,238 (GRCm39) |
N114I |
probably benign |
Het |
| Cdan1 |
G |
T |
2: 120,554,650 (GRCm39) |
A875E |
probably damaging |
Het |
| Celf2 |
A |
T |
2: 6,726,349 (GRCm39) |
F61L |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,712,801 (GRCm39) |
Y875H |
unknown |
Het |
| Ckap5 |
A |
T |
2: 91,379,177 (GRCm39) |
K39M |
probably benign |
Het |
| Clcn3 |
T |
C |
8: 61,390,434 (GRCm39) |
H169R |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,560,083 (GRCm39) |
V1416F |
|
Het |
| Cyp4v3 |
A |
T |
8: 45,773,703 (GRCm39) |
H155Q |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,379,466 (GRCm39) |
F874S |
possibly damaging |
Het |
| Dnah14 |
A |
T |
1: 181,450,544 (GRCm39) |
Q719L |
probably benign |
Het |
| Evi2 |
C |
T |
11: 79,406,583 (GRCm39) |
V331M |
probably damaging |
Het |
| Fcgrt |
T |
G |
7: 44,744,853 (GRCm39) |
E205A |
possibly damaging |
Het |
| Fkrp |
G |
T |
7: 16,545,112 (GRCm39) |
T250N |
probably benign |
Het |
| Ftdc1 |
A |
G |
16: 58,434,974 (GRCm39) |
L117S |
probably benign |
Het |
| Galc |
G |
A |
12: 98,225,573 (GRCm39) |
P6S |
|
Het |
| Gm5134 |
A |
T |
10: 75,828,331 (GRCm39) |
M304L |
possibly damaging |
Het |
| Haao |
T |
C |
17: 84,142,215 (GRCm39) |
E208G |
probably damaging |
Het |
| Hook1 |
T |
A |
4: 95,904,678 (GRCm39) |
H553Q |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,090,280 (GRCm39) |
|
probably null |
Het |
| Ighv10-3 |
C |
T |
12: 114,487,254 (GRCm39) |
V56I |
probably benign |
Het |
| Ighv1-62-1 |
G |
T |
12: 115,350,705 (GRCm39) |
A15E |
probably benign |
Het |
| Krtap24-1 |
T |
C |
16: 88,408,378 (GRCm39) |
*249W |
probably null |
Het |
| Ktn1 |
T |
G |
14: 47,910,508 (GRCm39) |
I318R |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,572,123 (GRCm39) |
T710A |
unknown |
Het |
| Ldha |
A |
T |
7: 46,504,456 (GRCm39) |
Q326L |
possibly damaging |
Het |
| Map4 |
G |
A |
9: 109,901,774 (GRCm39) |
|
probably null |
Het |
| Mdfic |
T |
A |
6: 15,770,514 (GRCm39) |
H173Q |
probably damaging |
Het |
| Noxred1 |
T |
A |
12: 87,271,692 (GRCm39) |
Q159L |
possibly damaging |
Het |
| Omd |
T |
C |
13: 49,743,336 (GRCm39) |
S129P |
probably damaging |
Het |
| Or14j3 |
C |
T |
17: 37,900,914 (GRCm39) |
G110D |
probably benign |
Het |
| Or52r1c |
T |
C |
7: 102,735,196 (GRCm39) |
V152A |
probably benign |
Het |
| Parp16 |
A |
G |
9: 65,141,009 (GRCm39) |
Y193C |
probably damaging |
Het |
| Pdzk1 |
A |
G |
3: 96,763,174 (GRCm39) |
T201A |
|
Het |
| Phldb2 |
T |
A |
16: 45,601,756 (GRCm39) |
H728L |
possibly damaging |
Het |
| Prrt1b |
A |
T |
2: 29,637,548 (GRCm39) |
L42Q |
probably damaging |
Het |
| Ptchd4 |
C |
T |
17: 42,813,641 (GRCm39) |
T514I |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,976,094 (GRCm39) |
D24G |
probably benign |
Het |
| Rai1 |
G |
A |
11: 60,080,165 (GRCm39) |
A1410T |
probably benign |
Het |
| Rint1 |
T |
A |
5: 24,005,721 (GRCm39) |
H134Q |
possibly damaging |
Het |
| Rnf170 |
A |
G |
8: 26,619,243 (GRCm39) |
S156G |
unknown |
Het |
| Rtf1 |
A |
G |
2: 119,535,986 (GRCm39) |
D180G |
possibly damaging |
Het |
| Sectm1a |
G |
T |
11: 120,960,490 (GRCm39) |
D108E |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,616,848 (GRCm39) |
S431G |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,073,472 (GRCm39) |
D773E |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,089,248 (GRCm39) |
L1662P |
probably damaging |
Het |
| Slx4 |
G |
T |
16: 3,804,328 (GRCm39) |
P829T |
possibly damaging |
Het |
| Snapc4 |
A |
T |
2: 26,268,533 (GRCm39) |
S43T |
probably damaging |
Het |
| Ssh3 |
C |
T |
19: 4,312,437 (GRCm39) |
R636Q |
probably benign |
Het |
| Strn4 |
G |
A |
7: 16,572,496 (GRCm39) |
V679M |
probably damaging |
Het |
| Tas2r121 |
T |
G |
6: 132,677,765 (GRCm39) |
Y69S |
probably benign |
Het |
| Tcerg1 |
C |
T |
18: 42,663,836 (GRCm39) |
T341M |
unknown |
Het |
| Tjp2 |
A |
C |
19: 24,078,207 (GRCm39) |
S895R |
probably damaging |
Het |
| Tmem220 |
G |
T |
11: 66,916,086 (GRCm39) |
A28S |
probably damaging |
Het |
| Trdv1 |
G |
A |
14: 54,119,663 (GRCm39) |
C109Y |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,634,190 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,625,027 (GRCm39) |
M15184V |
possibly damaging |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,802 (GRCm39) |
Y355F |
probably benign |
Het |
| Vnn3 |
C |
T |
10: 23,745,454 (GRCm39) |
R468* |
probably null |
Het |
| Washc5 |
T |
A |
15: 59,217,192 (GRCm39) |
T792S |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,847,893 (GRCm39) |
M820V |
|
Het |
| Zfp961 |
T |
A |
8: 72,721,933 (GRCm39) |
C149S |
possibly damaging |
Het |
| Zmat4 |
G |
A |
8: 24,238,507 (GRCm39) |
V30M |
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 |
|
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 |
|
|
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'- TCCCCTGCATGAAAACTCTAG -3'
(R):5'- GCTGCTTCCAAAAGACATCC -3'
Sequencing Primer
(F):5'- CTGCATGAAAACTCTAGTACAGTAC -3'
(R):5'- TGCTTCCAAAAGACATCCTATGGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation