Incidental Mutation 'R3815:Senp1'
| ID |
274267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp1
|
| Ensembl Gene |
ENSMUSG00000033075 |
| Gene Name |
SUMO1/sentrin specific peptidase 1 |
| Synonyms |
D15Ertd528e, E330036L07Rik, 2310046A20Rik |
| MMRRC Submission |
040770-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3815 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
97936625-97991625 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 97954713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 490
(D490E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044189]
[ENSMUST00000180657]
[ENSMUST00000180716]
|
| AlphaFold |
P59110 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044189
AA Change: D464E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046598
Gene: ENSMUSG00000033075
AA Change: D464E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
375 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
460 |
638 |
1.3e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180657
AA Change: D490E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138056
Gene: ENSMUSG00000033075
AA Change: D490E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
401 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
486 |
664 |
2e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180716
|
| SMART Domains |
Protein: ENSMUSP00000138032
Gene: ENSMUSG00000033075
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181855
|
| Meta Mutation Damage Score |
0.8972 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygous mutant mice die before birth. Depending on the allele mice may exhibit placental labyrinth defects and widespread cell death or severe anemia and a defect in definitive erythropoiesis in the fetal liver. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
A |
G |
19: 40,558,944 (GRCm39) |
S299P |
probably damaging |
Het |
| Ankrd6 |
A |
C |
4: 32,806,206 (GRCm39) |
S618R |
probably benign |
Het |
| Apobec3 |
G |
T |
15: 79,783,301 (GRCm39) |
R126M |
possibly damaging |
Het |
| Arl8b |
T |
A |
6: 108,790,658 (GRCm39) |
V65D |
probably damaging |
Het |
| AW554918 |
C |
T |
18: 25,533,104 (GRCm39) |
R253C |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
| Cdca7l |
G |
A |
12: 117,835,948 (GRCm39) |
V95I |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,928,467 (GRCm39) |
|
probably null |
Het |
| Cfap90 |
A |
G |
13: 68,759,344 (GRCm39) |
H106R |
probably damaging |
Het |
| Coq5 |
T |
G |
5: 115,433,957 (GRCm39) |
F306V |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,485,349 (GRCm39) |
V501A |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
| Cul5 |
T |
A |
9: 53,534,243 (GRCm39) |
I630L |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Dedd |
A |
G |
1: 171,166,469 (GRCm39) |
E135G |
probably benign |
Het |
| Ecel1 |
A |
G |
1: 87,080,622 (GRCm39) |
F368S |
probably damaging |
Het |
| Ext1 |
A |
C |
15: 53,208,485 (GRCm39) |
I92S |
probably benign |
Het |
| Fbxw5 |
A |
T |
2: 25,393,576 (GRCm39) |
D268V |
possibly damaging |
Het |
| Flacc1 |
T |
G |
1: 58,698,164 (GRCm39) |
N379T |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,302,034 (GRCm39) |
V192E |
possibly damaging |
Het |
| Gm11077 |
T |
G |
6: 140,675,041 (GRCm39) |
V11G |
unknown |
Het |
| Ift88 |
A |
T |
14: 57,678,438 (GRCm39) |
E150V |
possibly damaging |
Het |
| Kcna1 |
T |
C |
6: 126,620,009 (GRCm39) |
R104G |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Krt82 |
A |
G |
15: 101,459,035 (GRCm39) |
S2P |
probably damaging |
Het |
| Luc7l2 |
T |
C |
6: 38,547,526 (GRCm39) |
S69P |
possibly damaging |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Mamstr |
G |
T |
7: 45,293,956 (GRCm39) |
R20L |
probably damaging |
Het |
| Nav1 |
C |
A |
1: 135,398,862 (GRCm39) |
K573N |
possibly damaging |
Het |
| Or5b104 |
T |
C |
19: 13,072,277 (GRCm39) |
H245R |
probably damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Palld |
T |
A |
8: 62,002,871 (GRCm39) |
|
probably benign |
Het |
| Pcdha2 |
A |
G |
18: 37,074,748 (GRCm39) |
Y793C |
probably benign |
Het |
| Pcdhb4 |
A |
T |
18: 37,441,065 (GRCm39) |
D125V |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,883,359 (GRCm39) |
E329V |
probably damaging |
Het |
| Rarres1 |
T |
A |
3: 67,422,654 (GRCm39) |
D32V |
probably benign |
Het |
| Rhobtb1 |
A |
G |
10: 69,121,523 (GRCm39) |
H53R |
possibly damaging |
Het |
| Ryr1 |
A |
T |
7: 28,772,327 (GRCm39) |
S2494T |
probably damaging |
Het |
| Sapcd2 |
G |
A |
2: 25,263,518 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sfrp5 |
C |
T |
19: 42,187,230 (GRCm39) |
R280H |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,703,496 (GRCm39) |
T499I |
possibly damaging |
Het |
| Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Spire1 |
G |
T |
18: 67,639,733 (GRCm39) |
T273K |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,105,772 (GRCm39) |
T83A |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,552,077 (GRCm39) |
R29441* |
probably null |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Senp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00684:Senp1
|
APN |
15 |
97,962,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01431:Senp1
|
APN |
15 |
97,980,144 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02674:Senp1
|
APN |
15 |
97,954,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03289:Senp1
|
APN |
15 |
97,982,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Calmate
|
UTSW |
15 |
97,964,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
mustard
|
UTSW |
15 |
97,946,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
nitrogen
|
UTSW |
15 |
97,964,412 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Sinapis
|
UTSW |
15 |
97,962,761 (GRCm39) |
splice site |
probably benign |
|
|
PIT1430001:Senp1
|
UTSW |
15 |
97,982,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Senp1
|
UTSW |
15 |
97,974,549 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0026:Senp1
|
UTSW |
15 |
97,974,549 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0125:Senp1
|
UTSW |
15 |
97,946,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0531:Senp1
|
UTSW |
15 |
97,962,761 (GRCm39) |
splice site |
probably benign |
|
|
R1389:Senp1
|
UTSW |
15 |
97,973,734 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1396:Senp1
|
UTSW |
15 |
97,974,435 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1786:Senp1
|
UTSW |
15 |
97,973,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1999:Senp1
|
UTSW |
15 |
97,956,196 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2045:Senp1
|
UTSW |
15 |
97,957,825 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2130:Senp1
|
UTSW |
15 |
97,973,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2132:Senp1
|
UTSW |
15 |
97,973,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2133:Senp1
|
UTSW |
15 |
97,973,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2150:Senp1
|
UTSW |
15 |
97,956,196 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2327:Senp1
|
UTSW |
15 |
97,980,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4719:Senp1
|
UTSW |
15 |
97,954,731 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4766:Senp1
|
UTSW |
15 |
97,943,777 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4866:Senp1
|
UTSW |
15 |
97,964,729 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5141:Senp1
|
UTSW |
15 |
97,974,488 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5485:Senp1
|
UTSW |
15 |
97,964,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5651:Senp1
|
UTSW |
15 |
97,974,498 (GRCm39) |
missense |
probably benign |
|
|
R5668:Senp1
|
UTSW |
15 |
97,946,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Senp1
|
UTSW |
15 |
97,964,412 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6041:Senp1
|
UTSW |
15 |
97,956,097 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6395:Senp1
|
UTSW |
15 |
97,946,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6521:Senp1
|
UTSW |
15 |
97,946,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Senp1
|
UTSW |
15 |
97,980,187 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7075:Senp1
|
UTSW |
15 |
97,956,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7262:Senp1
|
UTSW |
15 |
97,964,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7625:Senp1
|
UTSW |
15 |
97,964,679 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8318:Senp1
|
UTSW |
15 |
97,962,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8368:Senp1
|
UTSW |
15 |
97,943,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8946:Senp1
|
UTSW |
15 |
97,940,782 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9373:Senp1
|
UTSW |
15 |
97,964,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9650:Senp1
|
UTSW |
15 |
97,946,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9756:Senp1
|
UTSW |
15 |
97,957,806 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAAGCAGCAGTCTCGAC -3'
(R):5'- AGGTGACTCGTGCTGAACAC -3'
Sequencing Primer
(F):5'- GCAGCAGTCTCGACAGCAC -3'
(R):5'- TGAACACAGCCAGGGCACTG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation