Incidental Mutation 'R2150:Senp1'
ID |
234224 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Senp1
|
Ensembl Gene |
ENSMUSG00000033075 |
Gene Name |
SUMO1/sentrin specific peptidase 1 |
Synonyms |
D15Ertd528e, E330036L07Rik, 2310046A20Rik |
MMRRC Submission |
040153-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2150 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
97936625-97991625 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 97956196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 408
(V408I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044189]
[ENSMUST00000180657]
[ENSMUST00000180716]
|
AlphaFold |
P59110 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044189
AA Change: V382I
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000046598 Gene: ENSMUSG00000033075 AA Change: V382I
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 |
possibly damaging
Transcript: ENSMUST00000180657
AA Change: V408I
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000138056 Gene: ENSMUSG00000033075 AA Change: V408I
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: ENSMUST00000181349
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181855
|
Meta Mutation Damage Score |
0.0889 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
98% (59/60) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402J07Rik |
C |
T |
8: 88,312,691 (GRCm39) |
Q159* |
probably null |
Het |
Abca12 |
C |
A |
1: 71,302,647 (GRCm39) |
V2191L |
probably benign |
Het |
Adam34 |
A |
G |
8: 44,105,538 (GRCm39) |
Y36H |
probably benign |
Het |
Adprm |
A |
G |
11: 66,929,055 (GRCm39) |
V312A |
probably benign |
Het |
Anapc2 |
T |
C |
2: 25,162,682 (GRCm39) |
L52P |
probably benign |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
Apoc4 |
T |
A |
7: 19,412,560 (GRCm39) |
T62S |
probably damaging |
Het |
Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,027,436 (GRCm39) |
E2G |
possibly damaging |
Het |
Atg4c |
C |
A |
4: 99,109,463 (GRCm39) |
N143K |
possibly damaging |
Het |
C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
Ccdc63 |
C |
G |
5: 122,265,628 (GRCm39) |
A71P |
possibly damaging |
Het |
Cdca2 |
T |
C |
14: 67,952,258 (GRCm39) |
K38E |
probably damaging |
Het |
Cyp2j11 |
G |
A |
4: 96,204,595 (GRCm39) |
T317I |
probably damaging |
Het |
Dab2 |
T |
C |
15: 6,446,398 (GRCm39) |
V5A |
probably benign |
Het |
Dennd3 |
A |
T |
15: 73,426,909 (GRCm39) |
H762L |
probably benign |
Het |
Disp1 |
A |
G |
1: 182,869,936 (GRCm39) |
F828S |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,406,587 (GRCm39) |
M552V |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,179,472 (GRCm39) |
|
probably null |
Het |
Dsel |
A |
T |
1: 111,787,987 (GRCm39) |
N849K |
probably benign |
Het |
Fah |
A |
T |
7: 84,244,042 (GRCm39) |
I239N |
probably damaging |
Het |
Flt4 |
T |
C |
11: 49,536,824 (GRCm39) |
Y1265H |
probably benign |
Het |
Ghdc |
T |
C |
11: 100,660,018 (GRCm39) |
E243G |
probably benign |
Het |
Glb1 |
T |
C |
9: 114,279,716 (GRCm39) |
Y375H |
probably damaging |
Het |
Gm6619 |
A |
G |
6: 131,466,021 (GRCm39) |
I40V |
probably benign |
Het |
Gpld1 |
T |
C |
13: 25,146,630 (GRCm39) |
V225A |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,391,921 (GRCm39) |
|
probably benign |
Het |
Igdcc4 |
A |
G |
9: 65,032,617 (GRCm39) |
I542V |
possibly damaging |
Het |
Igsf9b |
T |
C |
9: 27,245,633 (GRCm39) |
L1200P |
probably damaging |
Het |
Itgb7 |
C |
T |
15: 102,130,553 (GRCm39) |
V378M |
probably damaging |
Het |
Krt84 |
T |
C |
15: 101,438,019 (GRCm39) |
E312G |
possibly damaging |
Het |
Man2a2 |
A |
G |
7: 80,017,532 (GRCm39) |
W250R |
probably damaging |
Het |
Mcam |
T |
C |
9: 44,047,932 (GRCm39) |
V59A |
probably damaging |
Het |
Mfrp |
T |
C |
9: 44,015,015 (GRCm39) |
L314P |
probably benign |
Het |
Mgat5 |
T |
C |
1: 127,396,987 (GRCm39) |
V578A |
probably damaging |
Het |
Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
Myh1 |
A |
C |
11: 67,113,234 (GRCm39) |
D1873A |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,376,677 (GRCm39) |
W235R |
probably damaging |
Het |
Or9g19 |
T |
C |
2: 85,600,342 (GRCm39) |
S66P |
probably damaging |
Het |
Parvb |
A |
G |
15: 84,116,369 (GRCm39) |
K33E |
possibly damaging |
Het |
Pecr |
T |
C |
1: 72,316,517 (GRCm39) |
R63G |
possibly damaging |
Het |
Pkhd1l1 |
T |
G |
15: 44,363,378 (GRCm39) |
|
probably null |
Het |
Plekha5 |
T |
C |
6: 140,516,129 (GRCm39) |
V270A |
probably damaging |
Het |
Prr14l |
T |
C |
5: 32,988,046 (GRCm39) |
D483G |
probably benign |
Het |
Rimkla |
T |
A |
4: 119,331,779 (GRCm39) |
M140L |
possibly damaging |
Het |
Stambpl1 |
T |
A |
19: 34,204,104 (GRCm39) |
Y65N |
probably damaging |
Het |
Tada2a |
T |
C |
11: 83,970,455 (GRCm39) |
D432G |
probably damaging |
Het |
Themis |
T |
A |
10: 28,544,723 (GRCm39) |
I23N |
probably damaging |
Het |
Thnsl1 |
T |
C |
2: 21,217,344 (GRCm39) |
I366T |
probably benign |
Het |
Tmem131 |
C |
A |
1: 36,851,690 (GRCm39) |
V938L |
probably benign |
Het |
Tmem178b |
A |
T |
6: 40,184,435 (GRCm39) |
Q111L |
probably damaging |
Het |
Vmn1r195 |
C |
G |
13: 22,462,934 (GRCm39) |
L135V |
possibly damaging |
Het |
Vmn2r-ps36 |
C |
T |
7: 7,431,539 (GRCm39) |
|
noncoding transcript |
Het |
Zfp956 |
G |
A |
6: 47,940,805 (GRCm39) |
R388H |
probably damaging |
Het |
Zfr2 |
T |
G |
10: 81,077,950 (GRCm39) |
V259G |
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 |
R2327:Senp1
|
UTSW |
15 |
97,980,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R3815:Senp1
|
UTSW |
15 |
97,954,713 (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'- ACATTTGAAACTTCCCTCAGCTAAC -3'
(R):5'- GTTACCTCTACCTGAGTTACGC -3'
Sequencing Primer
(F):5'- TAGCTCTGACTGGTCTGGAACAC -3'
(R):5'- ACCTGAGTTACGCTGTTTGC -3'
|
Posted On |
2014-10-01 |