Incidental Mutation 'IGL02560:Senp5'
ID |
298186 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Senp5
|
Ensembl Gene |
ENSMUSG00000022772 |
Gene Name |
SUMO/sentrin specific peptidase 5 |
Synonyms |
A730063F07Rik, 6230429P13Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02560
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
31778490-31822105 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31808210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 348
(V348A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023457]
[ENSMUST00000129900]
[ENSMUST00000155515]
[ENSMUST00000231360]
|
AlphaFold |
Q6NXL6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023457
AA Change: V348A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023457 Gene: ENSMUSG00000022772 AA Change: V348A
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 |
probably benign
Transcript: ENSMUST00000129900
AA Change: V321A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000115257 Gene: ENSMUSG00000022772 AA Change: V321A
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 |
probably benign
Transcript: ENSMUST00000231360
AA Change: V348A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232628
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
C |
T |
10: 88,814,603 (GRCm39) |
W660* |
probably null |
Het |
Atp9b |
T |
C |
18: 80,805,413 (GRCm39) |
D715G |
probably benign |
Het |
Catsper1 |
T |
C |
19: 5,386,216 (GRCm39) |
S150P |
possibly damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cldn19 |
G |
A |
4: 119,112,921 (GRCm39) |
W51* |
probably null |
Het |
Ddx31 |
T |
C |
2: 28,765,838 (GRCm39) |
I512T |
probably damaging |
Het |
Dsc2 |
G |
T |
18: 20,178,596 (GRCm39) |
D269E |
probably damaging |
Het |
Dsg1b |
T |
C |
18: 20,542,235 (GRCm39) |
V914A |
possibly damaging |
Het |
Etl4 |
A |
G |
2: 20,748,529 (GRCm39) |
E420G |
probably damaging |
Het |
Foxa2 |
A |
G |
2: 147,885,951 (GRCm39) |
L113P |
probably benign |
Het |
Gm6034 |
T |
G |
17: 36,367,356 (GRCm39) |
|
probably benign |
Het |
Gtf3c4 |
A |
T |
2: 28,724,279 (GRCm39) |
Y343* |
probably null |
Het |
Hhip |
A |
T |
8: 80,713,638 (GRCm39) |
Y563N |
probably damaging |
Het |
Ighg2c |
A |
T |
12: 113,251,504 (GRCm39) |
C208S |
unknown |
Het |
Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
Myb |
A |
T |
10: 21,028,347 (GRCm39) |
L172Q |
probably damaging |
Het |
Nipal3 |
A |
T |
4: 135,207,015 (GRCm39) |
Y60N |
probably damaging |
Het |
Npas2 |
A |
T |
1: 39,373,042 (GRCm39) |
|
probably benign |
Het |
Or5h26 |
G |
T |
16: 58,987,891 (GRCm39) |
S205* |
probably null |
Het |
Or8k16 |
T |
A |
2: 85,519,863 (GRCm39) |
V30D |
possibly damaging |
Het |
Or8k39 |
A |
T |
2: 86,563,578 (GRCm39) |
I126N |
probably damaging |
Het |
Pdxdc1 |
T |
C |
16: 13,657,596 (GRCm39) |
D532G |
probably benign |
Het |
Pwp2 |
T |
C |
10: 78,014,899 (GRCm39) |
S362G |
probably damaging |
Het |
Slc25a37 |
T |
C |
14: 69,482,741 (GRCm39) |
T187A |
probably benign |
Het |
Svil |
A |
G |
18: 5,049,379 (GRCm39) |
I219V |
probably benign |
Het |
Tcf4 |
A |
G |
18: 69,776,093 (GRCm39) |
|
probably benign |
Het |
Tex15 |
T |
C |
8: 34,071,779 (GRCm39) |
V2442A |
probably benign |
Het |
Tomm70a |
T |
C |
16: 56,970,212 (GRCm39) |
L530S |
probably benign |
Het |
Ulbp3 |
A |
G |
10: 3,075,866 (GRCm39) |
|
noncoding transcript |
Het |
Wscd2 |
A |
T |
5: 113,699,045 (GRCm39) |
D200V |
probably benign |
Het |
Zfp952 |
C |
T |
17: 33,221,793 (GRCm39) |
Q53* |
probably null |
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 |
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 |
|
R0578:Senp5
|
UTSW |
16 |
31,808,163 (GRCm39) |
missense |
possibly damaging |
0.75 |
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 |
|
Posted On |
2015-04-16 |