Incidental Mutation 'IGL03289:Senp1'
| ID |
415834 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Senp1
|
| Ensembl Gene |
ENSMUSG00000033075 |
| Gene Name |
SUMO1/sentrin specific peptidase 1 |
| Synonyms |
D15Ertd528e, E330036L07Rik, 2310046A20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03289
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
97936625-97991625 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 97982926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 20
(H20Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044189]
[ENSMUST00000180657]
[ENSMUST00000180716]
[ENSMUST00000183105]
|
| AlphaFold |
P59110 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044189
AA Change: H20Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046598
Gene: ENSMUSG00000033075
AA Change: H20Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000180531
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180657
AA Change: H20Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138056
Gene: ENSMUSG00000033075
AA Change: H20Q
| 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 |
possibly damaging
Transcript: ENSMUST00000180716
AA Change: H20Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138032
Gene: ENSMUSG00000033075
AA Change: H20Q
| 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: ENSMUST00000182611
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183105
AA Change: H20Q
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap10 |
A |
G |
11: 61,768,794 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,127,261 (GRCm39) |
Y3703C |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,326,995 (GRCm39) |
V728A |
probably benign |
Het |
| B3galt2 |
T |
C |
1: 143,523,042 (GRCm39) |
Y393H |
probably damaging |
Het |
| Clcn4 |
T |
A |
7: 7,287,257 (GRCm39) |
I664F |
probably damaging |
Het |
| Clec2e |
A |
T |
6: 129,075,418 (GRCm39) |
I41N |
probably damaging |
Het |
| Col2a1 |
A |
T |
15: 97,878,762 (GRCm39) |
N845K |
unknown |
Het |
| Cubn |
T |
G |
2: 13,431,778 (GRCm39) |
I1272L |
probably benign |
Het |
| Dnajc5 |
T |
C |
2: 181,189,260 (GRCm39) |
Y79H |
probably damaging |
Het |
| Eml6 |
G |
T |
11: 29,745,328 (GRCm39) |
A1006E |
possibly damaging |
Het |
| Igsf5 |
A |
T |
16: 96,326,632 (GRCm39) |
D271V |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 34,205,667 (GRCm39) |
A70V |
possibly damaging |
Het |
| Kcnn2 |
A |
T |
18: 45,810,111 (GRCm39) |
K309N |
probably damaging |
Het |
| Lrch4 |
T |
C |
5: 137,631,839 (GRCm39) |
S22P |
probably damaging |
Het |
| Mcpt2 |
A |
T |
14: 56,281,794 (GRCm39) |
I215F |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,313,634 (GRCm39) |
|
probably null |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Or1l4b |
C |
T |
2: 37,036,590 (GRCm39) |
A122V |
probably damaging |
Het |
| Osbp2 |
A |
G |
11: 3,813,380 (GRCm39) |
V163A |
probably benign |
Het |
| Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
| Scart1 |
T |
C |
7: 139,808,973 (GRCm39) |
|
probably null |
Het |
| Slc16a6 |
A |
G |
11: 109,354,325 (GRCm39) |
Y31H |
probably damaging |
Het |
| Thbs2 |
T |
A |
17: 14,910,384 (GRCm39) |
N72Y |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,343,818 (GRCm39) |
S1366T |
possibly damaging |
Het |
| Vmn1r216 |
T |
A |
13: 23,284,182 (GRCm39) |
D288E |
possibly damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,196,788 (GRCm39) |
|
probably benign |
Het |
| Vnn3 |
A |
T |
10: 23,741,735 (GRCm39) |
S347C |
possibly damaging |
Het |
| Yme1l1 |
T |
C |
2: 23,050,280 (GRCm39) |
V37A |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,683,786 (GRCm39) |
D323E |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation