Incidental Mutation 'R0578:Senp5'
| ID |
56332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp5
|
| Ensembl Gene |
ENSMUSG00000022772 |
| Gene Name |
SUMO/sentrin specific peptidase 5 |
| Synonyms |
A730063F07Rik, 6230429P13Rik |
| MMRRC Submission |
038768-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0578 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
31778490-31822105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31808163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 337
(T337S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023457]
[ENSMUST00000129900]
[ENSMUST00000155515]
[ENSMUST00000231360]
|
| AlphaFold |
Q6NXL6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023457
AA Change: T364S
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023457
Gene: ENSMUSG00000022772
AA Change: T364S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
452 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
575 |
747 |
3.9e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119503
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121984
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129900
AA Change: T337S
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115257
Gene: ENSMUSG00000022772
AA Change: T337S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
414 |
425 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
548 |
603 |
5.8e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144320
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155515
|
| SMART Domains |
Protein: ENSMUSP00000117481
Gene: ENSMUSG00000022772
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
156 |
208 |
2.7e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231360
AA Change: T364S
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232628
|
| Meta Mutation Damage Score |
0.0666 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP5, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,943,556 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Abca5 |
A |
T |
11: 110,167,315 (GRCm39) |
C1500* |
probably null |
Het |
| Acr |
C |
G |
15: 89,453,678 (GRCm39) |
H72Q |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,131,863 (GRCm39) |
D416G |
possibly damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,904,214 (GRCm39) |
Y691F |
probably benign |
Het |
| Akna |
A |
G |
4: 63,289,147 (GRCm39) |
S1259P |
probably benign |
Het |
| Atad2 |
G |
A |
15: 57,968,964 (GRCm39) |
T525I |
probably damaging |
Het |
| Atp2a1 |
T |
G |
7: 126,049,315 (GRCm39) |
M576L |
probably benign |
Het |
| B4galt6 |
T |
C |
18: 20,861,013 (GRCm39) |
|
probably benign |
Het |
| Best3 |
A |
G |
10: 116,844,904 (GRCm39) |
D353G |
probably benign |
Het |
| Btg3 |
A |
T |
16: 78,161,834 (GRCm39) |
D125E |
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,549,444 (GRCm39) |
D1320E |
probably damaging |
Het |
| Cachd1 |
A |
C |
4: 100,852,039 (GRCm39) |
|
probably benign |
Het |
| Cad |
T |
C |
5: 31,216,120 (GRCm39) |
V151A |
probably benign |
Het |
| Capns1 |
A |
T |
7: 29,893,453 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,404,116 (GRCm39) |
T860S |
possibly damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,637,400 (GRCm39) |
T76A |
probably benign |
Het |
| Cdipt |
T |
A |
7: 126,578,702 (GRCm39) |
|
probably null |
Het |
| Cyp2d12 |
G |
A |
15: 82,440,584 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
C |
A |
4: 86,730,659 (GRCm39) |
P852Q |
probably damaging |
Het |
| Dsg2 |
G |
A |
18: 20,727,291 (GRCm39) |
V613I |
probably benign |
Het |
| Dusp16 |
G |
C |
6: 134,695,284 (GRCm39) |
L516V |
probably damaging |
Het |
| Eif2ak4 |
T |
G |
2: 118,305,472 (GRCm39) |
|
probably benign |
Het |
| Faf2 |
C |
T |
13: 54,769,658 (GRCm39) |
A2V |
possibly damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,252,937 (GRCm39) |
I236T |
probably damaging |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Got1 |
G |
T |
19: 43,504,222 (GRCm39) |
S66R |
probably benign |
Het |
| Gpr149 |
T |
A |
3: 62,510,110 (GRCm39) |
H335L |
possibly damaging |
Het |
| Hadhb |
A |
G |
5: 30,383,804 (GRCm39) |
I342M |
probably benign |
Het |
| Helz |
T |
A |
11: 107,577,226 (GRCm39) |
V1859D |
unknown |
Het |
| Htr1a |
T |
A |
13: 105,581,595 (GRCm39) |
N278K |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,480,795 (GRCm39) |
E355G |
probably damaging |
Het |
| Isl2 |
A |
G |
9: 55,452,319 (GRCm39) |
Y297C |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,182,350 (GRCm39) |
H250R |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,282,074 (GRCm39) |
D225V |
probably benign |
Het |
| Mtch2 |
T |
C |
2: 90,683,174 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,755,690 (GRCm38) |
|
probably benign |
Het |
| Ncoa7 |
A |
C |
10: 30,577,913 (GRCm39) |
|
probably null |
Het |
| Nuf2 |
T |
A |
1: 169,338,118 (GRCm39) |
|
probably benign |
Het |
| Or5ak24 |
T |
C |
2: 85,261,017 (GRCm39) |
D52G |
probably benign |
Het |
| Or6c8 |
A |
G |
10: 128,915,062 (GRCm39) |
Y257H |
probably damaging |
Het |
| Pced1a |
T |
A |
2: 130,261,763 (GRCm39) |
S297C |
probably damaging |
Het |
| Pi15 |
A |
T |
1: 17,673,073 (GRCm39) |
K91* |
probably null |
Het |
| Pla2g4e |
C |
T |
2: 120,075,162 (GRCm39) |
|
probably benign |
Het |
| Plce1 |
A |
T |
19: 38,766,383 (GRCm39) |
H2136L |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,084 (GRCm39) |
L2973P |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,171,682 (GRCm39) |
I695T |
probably damaging |
Het |
| Pramel32 |
T |
A |
4: 88,552,376 (GRCm39) |
I2F |
probably benign |
Het |
| R3hdm1 |
C |
T |
1: 128,159,174 (GRCm39) |
Q950* |
probably null |
Het |
| Rxra |
C |
T |
2: 27,649,582 (GRCm39) |
A429V |
probably damaging |
Het |
| Scnn1a |
G |
A |
6: 125,299,207 (GRCm39) |
G96S |
probably damaging |
Het |
| Smg9 |
A |
G |
7: 24,114,468 (GRCm39) |
D269G |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,717,704 (GRCm39) |
|
probably benign |
Het |
| Tmtc1 |
C |
T |
6: 148,256,716 (GRCm39) |
|
probably benign |
Het |
| Vmn2r19 |
T |
C |
6: 123,312,931 (GRCm39) |
V667A |
probably damaging |
Het |
|
| Other mutations in Senp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00838:Senp5
|
APN |
16 |
31,807,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Senp5
|
APN |
16 |
31,809,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01707:Senp5
|
APN |
16 |
31,808,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01923:Senp5
|
APN |
16 |
31,784,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01997:Senp5
|
APN |
16 |
31,782,288 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02273:Senp5
|
APN |
16 |
31,808,690 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02560:Senp5
|
APN |
16 |
31,808,210 (GRCm39) |
missense |
probably benign |
|
|
IGL02651:Senp5
|
APN |
16 |
31,808,897 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02830:Senp5
|
APN |
16 |
31,802,303 (GRCm39) |
splice site |
probably benign |
|
|
R1879:Senp5
|
UTSW |
16 |
31,802,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Senp5
|
UTSW |
16 |
31,787,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Senp5
|
UTSW |
16 |
31,802,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Senp5
|
UTSW |
16 |
31,807,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5590:Senp5
|
UTSW |
16 |
31,808,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6346:Senp5
|
UTSW |
16 |
31,802,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Senp5
|
UTSW |
16 |
31,808,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6762:Senp5
|
UTSW |
16 |
31,808,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7002:Senp5
|
UTSW |
16 |
31,802,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Senp5
|
UTSW |
16 |
31,808,113 (GRCm39) |
missense |
probably benign |
|
|
R7436:Senp5
|
UTSW |
16 |
31,794,847 (GRCm39) |
missense |
unknown |
|
|
R7721:Senp5
|
UTSW |
16 |
31,809,252 (GRCm39) |
start codon destroyed |
unknown |
|
|
R7847:Senp5
|
UTSW |
16 |
31,808,991 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7992:Senp5
|
UTSW |
16 |
31,796,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Senp5
|
UTSW |
16 |
31,784,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8147:Senp5
|
UTSW |
16 |
31,808,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8313:Senp5
|
UTSW |
16 |
31,808,117 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8353:Senp5
|
UTSW |
16 |
31,808,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8453:Senp5
|
UTSW |
16 |
31,808,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8506:Senp5
|
UTSW |
16 |
31,787,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9079:Senp5
|
UTSW |
16 |
31,787,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9317:Senp5
|
UTSW |
16 |
31,802,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Senp5
|
UTSW |
16 |
31,782,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTCTGCTTCAGAGACCCATCC -3'
(R):5'- TGCAATCCAGTCCCTTCCCTAGAAC -3'
Sequencing Primer
(F):5'- AAGTTCTCATTCTGGGCAGGC -3'
(R):5'- CTAGAACCTAAAGATCCTTGTCGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation