Incidental Mutation 'R8453:Senp7'
| ID |
654894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp7
|
| Ensembl Gene |
ENSMUSG00000052917 |
| Gene Name |
SUMO1/sentrin specific peptidase 7 |
| Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
| MMRRC Submission |
067904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R8453 (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 56008691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1024
(I1024V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089360]
[ENSMUST00000089362]
|
| AlphaFold |
Q8BUH8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089360
AA Change: I997V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: I997V
| 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: I1024V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: I1024V
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (68/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
G |
T |
9: 101,815,884 (GRCm39) |
C23F |
possibly damaging |
Het |
| Adam29 |
T |
C |
8: 56,326,196 (GRCm39) |
H86R |
possibly damaging |
Het |
| Alas1 |
C |
T |
9: 106,113,721 (GRCm39) |
R508Q |
possibly damaging |
Het |
| Albfm1 |
A |
T |
5: 90,714,360 (GRCm39) |
R123S |
possibly damaging |
Het |
| Ark2n |
T |
C |
18: 77,761,604 (GRCm39) |
E236G |
probably damaging |
Het |
| Bmp3 |
G |
A |
5: 99,003,282 (GRCm39) |
|
probably null |
Het |
| Bud13 |
A |
G |
9: 46,199,499 (GRCm39) |
T287A |
probably benign |
Het |
| C3 |
T |
C |
17: 57,519,643 (GRCm39) |
E1203G |
probably benign |
Het |
| Carmil2 |
A |
C |
8: 106,416,843 (GRCm39) |
Q476P |
probably damaging |
Het |
| Ccdc187 |
T |
A |
2: 26,166,458 (GRCm39) |
T707S |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,735,086 (GRCm39) |
V1435E |
probably damaging |
Het |
| Chrm3 |
A |
T |
13: 9,927,267 (GRCm39) |
*590K |
probably null |
Het |
| Commd1 |
C |
T |
11: 22,928,503 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
A |
T |
2: 91,821,274 (GRCm39) |
Y314* |
probably null |
Het |
| Ctc1 |
T |
A |
11: 68,913,275 (GRCm39) |
S90R |
probably benign |
Het |
| Dixdc1 |
T |
C |
9: 50,596,186 (GRCm39) |
Q413R |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,208,213 (GRCm39) |
T998A |
probably benign |
Het |
| Dnai4 |
A |
G |
4: 102,917,113 (GRCm39) |
I577T |
possibly damaging |
Het |
| Eif1ad14 |
C |
T |
12: 87,886,323 (GRCm39) |
S102N |
probably benign |
Het |
| Fam89b |
A |
G |
19: 5,778,903 (GRCm39) |
S99P |
possibly damaging |
Het |
| Fbxo30 |
A |
G |
10: 11,166,479 (GRCm39) |
I400M |
probably benign |
Het |
| Gad1 |
A |
T |
2: 70,431,057 (GRCm39) |
M567L |
probably benign |
Het |
| Gemin5 |
T |
C |
11: 58,016,065 (GRCm39) |
S1314G |
probably benign |
Het |
| Gm9195 |
T |
G |
14: 72,678,201 (GRCm39) |
I2323L |
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,133,877 (GRCm39) |
F585L |
probably damaging |
Het |
| Hbs1l |
A |
T |
10: 21,185,178 (GRCm39) |
H200L |
probably benign |
Het |
| Igsf5 |
A |
G |
16: 96,222,996 (GRCm39) |
Q360R |
probably benign |
Het |
| Il31ra |
A |
T |
13: 112,660,717 (GRCm39) |
V624E |
probably damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,364,779 (GRCm39) |
R837G |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,475,129 (GRCm39) |
S363P |
probably benign |
Het |
| Lpl |
A |
G |
8: 69,348,433 (GRCm39) |
I221V |
probably damaging |
Het |
| Mcf2l |
T |
C |
8: 13,034,956 (GRCm39) |
|
probably null |
Het |
| Mink1 |
T |
A |
11: 70,501,154 (GRCm39) |
D887E |
possibly damaging |
Het |
| Mmp10 |
T |
G |
9: 7,508,203 (GRCm39) |
F443C |
probably damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,965,361 (GRCm39) |
Y1131N |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,223,137 (GRCm39) |
V460E |
probably damaging |
Het |
| Nicn1 |
T |
A |
9: 108,170,572 (GRCm39) |
F57Y |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,449,528 (GRCm39) |
Y577C |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,312,352 (GRCm39) |
T1535A |
probably damaging |
Het |
| Opa1 |
G |
A |
16: 29,439,686 (GRCm39) |
R755H |
probably damaging |
Het |
| P4htm |
C |
T |
9: 108,457,566 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,645,385 (GRCm39) |
S354P |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,489,121 (GRCm39) |
S316P |
probably damaging |
Het |
| Pnpla1 |
T |
A |
17: 29,077,873 (GRCm39) |
D11E |
probably benign |
Het |
| Pold2 |
A |
G |
11: 5,825,104 (GRCm39) |
F98L |
probably damaging |
Het |
| Prph |
G |
A |
15: 98,954,657 (GRCm39) |
R241Q |
probably benign |
Het |
| Rcl1 |
T |
C |
19: 29,093,159 (GRCm39) |
I58T |
possibly damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,514,151 (GRCm39) |
N117D |
probably benign |
Het |
| Sars1 |
G |
A |
3: 108,336,029 (GRCm39) |
S331L |
probably benign |
Het |
| Scfd1 |
A |
C |
12: 51,459,374 (GRCm39) |
K312Q |
possibly damaging |
Het |
| Senp5 |
A |
G |
16: 31,808,166 (GRCm39) |
C363R |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,103,663 (GRCm39) |
L1191P |
probably damaging |
Het |
| Stk40 |
A |
G |
4: 126,022,766 (GRCm39) |
E180G |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,684,792 (GRCm39) |
V536E |
probably benign |
Het |
| Suco |
A |
T |
1: 161,650,586 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
G |
T |
8: 34,066,899 (GRCm39) |
E2110* |
probably null |
Het |
| Thbs4 |
G |
A |
13: 92,927,325 (GRCm39) |
P55S |
probably benign |
Het |
| Tmem115 |
T |
C |
9: 107,411,997 (GRCm39) |
V107A |
probably benign |
Het |
| Tnfaip6 |
A |
C |
2: 51,945,879 (GRCm39) |
I242L |
probably benign |
Het |
| Trabd |
G |
T |
15: 88,969,616 (GRCm39) |
A270S |
possibly damaging |
Het |
| Trim30d |
T |
A |
7: 104,136,947 (GRCm39) |
I86F |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,970,372 (GRCm39) |
V404A |
probably benign |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,886 (GRCm39) |
Y143H |
probably benign |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,373 (GRCm39) |
D707V |
probably damaging |
Het |
| Vnn3 |
G |
A |
10: 23,745,443 (GRCm39) |
R464H |
probably benign |
Het |
| Wdr27 |
T |
C |
17: 15,112,751 (GRCm39) |
T652A |
probably benign |
Het |
| Yeats2 |
C |
T |
16: 20,041,637 (GRCm39) |
R1176* |
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 |
|
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'- TGCTGTGGTATGCAGTAAACTG -3'
(R):5'- GGACTCAAACAAGATCGCATGTAC -3'
Sequencing Primer
(F):5'- GGTATGCAGTAAACTGTTACTTTTTG -3'
(R):5'- CGCATGTACATTTCAACAATCTGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation