Incidental Mutation 'IGL00838:Senp5'
| ID |
13966 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Senp5
|
| Ensembl Gene |
ENSMUSG00000022772 |
| Gene Name |
SUMO/sentrin specific peptidase 5 |
| Synonyms |
6230429P13Rik, A730063F07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00838
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
31959672-32003287 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31989173 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 394
(D394G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023457]
[ENSMUST00000129900]
[ENSMUST00000155515]
[ENSMUST00000231360]
|
| AlphaFold |
Q6NXL6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023457
AA Change: D421G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023457
Gene: ENSMUSG00000022772
AA Change: D421G
| 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 damaging
Transcript: ENSMUST00000129900
AA Change: D394G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115257
Gene: ENSMUSG00000022772
AA Change: D394G
| 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 |
possibly damaging
Transcript: ENSMUST00000155515
AA Change: D2G
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117481
Gene: ENSMUSG00000022772
AA Change: D2G
| 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: D421G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano7 |
C |
A |
1: 93,402,757 |
N834K |
possibly damaging |
Het |
| Armc10 |
T |
A |
5: 21,661,581 |
V281E |
probably damaging |
Het |
| Baat |
A |
T |
4: 49,490,352 |
M244K |
probably damaging |
Het |
| Cryz |
T |
A |
3: 154,618,475 |
C166S |
probably damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,201,303 |
K1649N |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 149,005,363 |
|
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,175,459 |
R1630* |
probably null |
Het |
| Gstm5 |
A |
G |
3: 107,897,558 |
N122S |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,911,359 |
G35C |
possibly damaging |
Het |
| Klrb1f |
G |
A |
6: 129,054,316 |
V159I |
possibly damaging |
Het |
| Mgl2 |
A |
T |
11: 70,134,212 |
M14L |
probably benign |
Het |
| Mob1a |
C |
T |
6: 83,338,331 |
R78C |
possibly damaging |
Het |
| Pigo |
C |
T |
4: 43,021,767 |
A392T |
possibly damaging |
Het |
| Polr3a |
A |
T |
14: 24,475,863 |
N436K |
probably benign |
Het |
| Prokr1 |
T |
C |
6: 87,588,693 |
T57A |
possibly damaging |
Het |
| Ror1 |
T |
G |
4: 100,333,743 |
V99G |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,568,503 |
I4755N |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,410,390 |
I1318V |
possibly damaging |
Het |
| Syt6 |
T |
A |
3: 103,625,626 |
M357K |
probably damaging |
Het |
| Tex11 |
A |
T |
X: 100,972,118 |
I328N |
possibly damaging |
Het |
| Ttc37 |
T |
C |
13: 76,134,791 |
L744P |
probably damaging |
Het |
| Vnn1 |
T |
C |
10: 23,900,779 |
F343L |
possibly damaging |
Het |
| Wdr72 |
A |
T |
9: 74,155,129 |
E519V |
probably damaging |
Het |
|
| Other mutations in Senp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Senp5
|
APN |
16 |
31990274 |
missense |
probably benign |
0.00 |
|
IGL01707:Senp5
|
APN |
16 |
31989770 |
missense |
probably damaging |
0.99 |
|
IGL01923:Senp5
|
APN |
16 |
31965816 |
missense |
probably damaging |
1.00 |
|
IGL01997:Senp5
|
APN |
16 |
31963470 |
missense |
probably damaging |
0.97 |
|
IGL02273:Senp5
|
APN |
16 |
31989872 |
missense |
probably benign |
0.14 |
|
IGL02560:Senp5
|
APN |
16 |
31989392 |
missense |
probably benign |
|
|
IGL02651:Senp5
|
APN |
16 |
31990079 |
missense |
probably benign |
0.04 |
|
IGL02830:Senp5
|
APN |
16 |
31983485 |
splice site |
probably benign |
|
|
R0578:Senp5
|
UTSW |
16 |
31989345 |
missense |
possibly damaging |
0.75 |
|
R1879:Senp5
|
UTSW |
16 |
31983824 |
missense |
probably damaging |
1.00 |
|
R2153:Senp5
|
UTSW |
16 |
31968874 |
missense |
probably damaging |
1.00 |
|
R4903:Senp5
|
UTSW |
16 |
31983299 |
missense |
probably damaging |
1.00 |
|
R5092:Senp5
|
UTSW |
16 |
31989142 |
missense |
probably benign |
0.00 |
|
R5590:Senp5
|
UTSW |
16 |
31989513 |
missense |
probably damaging |
0.99 |
|
R6346:Senp5
|
UTSW |
16 |
31983847 |
missense |
probably damaging |
1.00 |
|
R6362:Senp5
|
UTSW |
16 |
31989884 |
missense |
probably damaging |
0.99 |
|
R6762:Senp5
|
UTSW |
16 |
31989884 |
missense |
probably damaging |
0.99 |
|
R7002:Senp5
|
UTSW |
16 |
31983775 |
missense |
probably damaging |
1.00 |
|
R7027:Senp5
|
UTSW |
16 |
31989295 |
missense |
probably benign |
|
|
R7436:Senp5
|
UTSW |
16 |
31976029 |
missense |
unknown |
|
|
R7721:Senp5
|
UTSW |
16 |
31990434 |
start codon destroyed |
unknown |
|
|
R7847:Senp5
|
UTSW |
16 |
31990173 |
missense |
probably benign |
0.25 |
|
R7992:Senp5
|
UTSW |
16 |
31977696 |
missense |
probably damaging |
1.00 |
|
R8081:Senp5
|
UTSW |
16 |
31965759 |
missense |
probably damaging |
1.00 |
|
R8147:Senp5
|
UTSW |
16 |
31989310 |
missense |
probably benign |
0.00 |
|
R8313:Senp5
|
UTSW |
16 |
31989299 |
missense |
probably benign |
0.10 |
|
R8353:Senp5
|
UTSW |
16 |
31989348 |
missense |
probably benign |
0.00 |
|
R8453:Senp5
|
UTSW |
16 |
31989348 |
missense |
probably benign |
0.00 |
|
R8506:Senp5
|
UTSW |
16 |
31968901 |
missense |
probably damaging |
1.00 |
|
R9079:Senp5
|
UTSW |
16 |
31968900 |
missense |
probably damaging |
1.00 |
|
R9317:Senp5
|
UTSW |
16 |
31983572 |
missense |
probably damaging |
1.00 |
|
R9776:Senp5
|
UTSW |
16 |
31963461 |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation