Incidental Mutation 'IGL02830:Senp5'
ID |
361409 |
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 # |
IGL02830
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
31778490-31822105 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 31802303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000023457 Gene: ENSMUSG00000022772
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: ENSMUST00000121984
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129900
|
SMART Domains |
Protein: ENSMUSP00000115257 Gene: ENSMUSG00000022772
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 |
noncoding transcript
Transcript: ENSMUST00000180144
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231360
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
A |
17: 48,348,235 (GRCm39) |
E67D |
possibly damaging |
Het |
Acad11 |
T |
A |
9: 103,953,118 (GRCm39) |
F116I |
probably damaging |
Het |
Acox2 |
G |
A |
14: 8,255,298 (GRCm38) |
T160I |
probably damaging |
Het |
Anxa7 |
A |
T |
14: 20,506,608 (GRCm39) |
M444K |
possibly damaging |
Het |
Atg2a |
A |
G |
19: 6,297,711 (GRCm39) |
D423G |
probably benign |
Het |
Cela3a |
T |
C |
4: 137,128,946 (GRCm39) |
N282S |
probably benign |
Het |
Cyp2c50 |
G |
A |
19: 40,086,500 (GRCm39) |
V296I |
probably benign |
Het |
Fcgbpl1 |
C |
A |
7: 27,862,348 (GRCm39) |
H2471Q |
probably damaging |
Het |
Fgd3 |
A |
G |
13: 49,418,107 (GRCm39) |
|
probably benign |
Het |
Gfus |
C |
T |
15: 75,797,437 (GRCm39) |
V275I |
probably benign |
Het |
Gimap8 |
G |
A |
6: 48,633,239 (GRCm39) |
A353T |
probably benign |
Het |
Grin3a |
T |
A |
4: 49,702,787 (GRCm39) |
M900L |
possibly damaging |
Het |
H1f0 |
T |
G |
15: 78,913,511 (GRCm39) |
|
probably benign |
Het |
Heatr1 |
T |
C |
13: 12,441,093 (GRCm39) |
V1456A |
possibly damaging |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Kbtbd3 |
T |
A |
9: 4,330,096 (GRCm39) |
S157T |
possibly damaging |
Het |
Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
Klc1 |
T |
C |
12: 111,743,341 (GRCm39) |
Y223H |
probably damaging |
Het |
Klhl33 |
C |
T |
14: 51,129,214 (GRCm39) |
V672M |
probably damaging |
Het |
Lrrc49 |
G |
A |
9: 60,592,393 (GRCm39) |
L34F |
probably damaging |
Het |
Nalcn |
C |
T |
14: 123,530,881 (GRCm39) |
V1386I |
probably damaging |
Het |
Or14c39 |
T |
G |
7: 86,344,382 (GRCm39) |
C239W |
probably damaging |
Het |
Or4b13 |
A |
T |
2: 90,083,125 (GRCm39) |
I69N |
probably damaging |
Het |
Or51b6 |
C |
T |
7: 103,555,651 (GRCm39) |
P2S |
probably benign |
Het |
Or5ac19 |
A |
G |
16: 59,089,416 (GRCm39) |
S205P |
possibly damaging |
Het |
Orc5 |
A |
T |
5: 22,734,265 (GRCm39) |
L173Q |
probably damaging |
Het |
Otud4 |
T |
G |
8: 80,399,930 (GRCm39) |
D880E |
probably benign |
Het |
Pde12 |
T |
C |
14: 26,389,740 (GRCm39) |
Y323C |
probably damaging |
Het |
Pde8b |
G |
T |
13: 95,189,409 (GRCm39) |
D198E |
probably benign |
Het |
Prom2 |
T |
A |
2: 127,376,989 (GRCm39) |
I542F |
possibly damaging |
Het |
Ptprj |
G |
A |
2: 90,283,488 (GRCm39) |
T952I |
probably benign |
Het |
Ribc2 |
T |
A |
15: 85,016,458 (GRCm39) |
|
probably benign |
Het |
Sec31b |
C |
T |
19: 44,520,142 (GRCm39) |
R214K |
probably damaging |
Het |
Sh3pxd2a |
G |
A |
19: 47,271,517 (GRCm39) |
R249W |
probably damaging |
Het |
Sorcs3 |
G |
A |
19: 48,711,441 (GRCm39) |
|
probably null |
Het |
Spata31d1c |
A |
G |
13: 65,183,180 (GRCm39) |
T241A |
probably benign |
Het |
Tac1 |
G |
A |
6: 7,555,650 (GRCm39) |
V13I |
probably benign |
Het |
Tnnc2 |
T |
A |
2: 164,619,430 (GRCm39) |
D138V |
probably null |
Het |
Tspan32 |
T |
A |
7: 142,571,329 (GRCm39) |
M159K |
possibly damaging |
Het |
Ttc28 |
A |
T |
5: 111,434,105 (GRCm39) |
T2380S |
probably benign |
Het |
Ubc |
T |
A |
5: 125,464,377 (GRCm39) |
I317F |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,204,584 (GRCm39) |
S268P |
possibly damaging |
Het |
Vmn2r91 |
C |
A |
17: 18,356,884 (GRCm39) |
H850Q |
probably benign |
Het |
Xrn1 |
T |
C |
9: 95,900,234 (GRCm39) |
|
probably null |
Het |
Zfp329 |
A |
C |
7: 12,544,043 (GRCm39) |
C494G |
probably damaging |
Het |
Zfp54 |
T |
C |
17: 21,653,718 (GRCm39) |
S71P |
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 |
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 |
2015-12-18 |