Incidental Mutation 'IGL01997:Senp5'
| ID |
182121 |
| 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 # |
IGL01997
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
31778490-31822105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31782288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 736
(K736R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023457]
[ENSMUST00000023460]
[ENSMUST00000126215]
[ENSMUST00000155515]
[ENSMUST00000231360]
|
| AlphaFold |
Q6NXL6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023457
AA Change: K736R
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000023457
Gene: ENSMUSG00000022772
AA Change: K736R
| 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 |
probably benign
Transcript: ENSMUST00000023460
|
| SMART Domains |
Protein: ENSMUSP00000023460
Gene: ENSMUSG00000022774
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
41 |
114 |
6.96e-23 |
SMART |
|
low complexity region
|
122 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126215
|
| 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 damaging
Transcript: ENSMUST00000231360
AA Change: K736R
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
G |
A |
1: 179,583,027 (GRCm39) |
T83I |
probably damaging |
Het |
| Aoah |
A |
T |
13: 21,184,108 (GRCm39) |
M391L |
probably benign |
Het |
| Apc |
A |
G |
18: 34,448,476 (GRCm39) |
T1757A |
probably benign |
Het |
| B4galt5 |
A |
G |
2: 167,143,261 (GRCm39) |
Y388H |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,931,766 (GRCm39) |
M114K |
possibly damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,193,206 (GRCm39) |
E246G |
probably damaging |
Het |
| Fstl4 |
T |
A |
11: 53,053,881 (GRCm39) |
Y404* |
probably null |
Het |
| Gnat3 |
G |
T |
5: 18,204,721 (GRCm39) |
E125* |
probably null |
Het |
| Hspa5 |
C |
T |
2: 34,662,327 (GRCm39) |
|
probably benign |
Het |
| Krt72 |
A |
G |
15: 101,693,315 (GRCm39) |
S200P |
probably damaging |
Het |
| Mab21l3 |
G |
A |
3: 101,725,955 (GRCm39) |
T347I |
probably damaging |
Het |
| Map2k7 |
A |
G |
8: 4,293,442 (GRCm39) |
E104G |
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,819,471 (GRCm39) |
D261G |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,485,466 (GRCm39) |
P202L |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,989,814 (GRCm39) |
G32D |
probably damaging |
Het |
| Mmp20 |
T |
G |
9: 7,639,261 (GRCm39) |
M143R |
probably benign |
Het |
| Mms19 |
A |
T |
19: 41,944,970 (GRCm39) |
L302H |
probably damaging |
Het |
| Myh13 |
T |
A |
11: 67,257,992 (GRCm39) |
I1728K |
probably benign |
Het |
| Nsun2 |
C |
T |
13: 69,771,365 (GRCm39) |
P290L |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,961,938 (GRCm39) |
R507S |
probably damaging |
Het |
| Os9 |
T |
A |
10: 126,955,312 (GRCm39) |
H147L |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,215,070 (GRCm39) |
|
probably benign |
Het |
| Plekhf1 |
A |
T |
7: 37,920,752 (GRCm39) |
V272D |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,871,537 (GRCm39) |
I419T |
possibly damaging |
Het |
| Ppp1r3d |
G |
T |
2: 178,055,447 (GRCm39) |
T185K |
possibly damaging |
Het |
| Ppp2r2a |
C |
T |
14: 67,253,968 (GRCm39) |
S400N |
probably benign |
Het |
| Rpl21 |
T |
C |
5: 146,772,418 (GRCm39) |
I96T |
probably benign |
Het |
| S1pr3 |
C |
T |
13: 51,573,751 (GRCm39) |
R311W |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,878,503 (GRCm39) |
I209V |
possibly damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,435,292 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
A |
G |
9: 21,021,790 (GRCm39) |
F879L |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,316,373 (GRCm39) |
D482G |
possibly damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,978 (GRCm39) |
F646S |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,709,370 (GRCm39) |
S1772R |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,215,705 (GRCm39) |
C117Y |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,291,174 (GRCm39) |
I2144V |
probably benign |
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 |
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation