Incidental Mutation 'R6762:Senp5'
ID |
531761 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Senp5
|
Ensembl Gene |
ENSMUSG00000022772 |
Gene Name |
SUMO/sentrin specific peptidase 5 |
Synonyms |
A730063F07Rik, 6230429P13Rik |
MMRRC Submission |
044878-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6762 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
31778490-31822105 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31808702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 157
(V157A)
|
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: V184A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023457 Gene: ENSMUSG00000022772 AA Change: V184A
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: V157A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115257 Gene: ENSMUSG00000022772 AA Change: V157A
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: ENSMUST00000231360
AA Change: V184A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232628
|
Meta Mutation Damage Score |
0.1979 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (45/45) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr4 |
A |
G |
9: 103,976,867 (GRCm39) |
Y27H |
probably benign |
Het |
Angptl3 |
T |
A |
4: 98,925,654 (GRCm39) |
S327T |
possibly damaging |
Het |
Arl6ip4 |
GGAAGAAGAAGAAGAAGAA |
GGAAGAAGAAGAAGAAGAAGAA |
5: 124,255,113 (GRCm39) |
|
probably benign |
Het |
Cyp2s1 |
A |
T |
7: 25,507,495 (GRCm39) |
L318H |
probably damaging |
Het |
Dnah14 |
T |
C |
1: 181,584,824 (GRCm39) |
L3185P |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,263,902 (GRCm39) |
V2128A |
probably benign |
Het |
Ehhadh |
A |
T |
16: 21,581,209 (GRCm39) |
F594L |
probably benign |
Het |
En2 |
A |
G |
5: 28,375,351 (GRCm39) |
N298S |
possibly damaging |
Het |
Epha5 |
T |
A |
5: 84,479,585 (GRCm39) |
N140Y |
probably damaging |
Het |
Fam151b |
C |
T |
13: 92,604,558 (GRCm39) |
V144I |
possibly damaging |
Het |
Fanca |
C |
A |
8: 123,998,042 (GRCm39) |
A1215S |
probably benign |
Het |
Fancd2 |
T |
A |
6: 113,562,977 (GRCm39) |
|
probably null |
Het |
Fat2 |
T |
C |
11: 55,144,308 (GRCm39) |
|
probably null |
Het |
Gm4513 |
T |
C |
7: 20,328,118 (GRCm39) |
N31S |
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,279,114 (GRCm39) |
I3066F |
possibly damaging |
Het |
Krt10 |
T |
C |
11: 99,277,883 (GRCm39) |
T355A |
possibly damaging |
Het |
Lims1 |
C |
A |
10: 58,248,367 (GRCm39) |
H275N |
probably damaging |
Het |
Map3k19 |
C |
T |
1: 127,775,001 (GRCm39) |
G112D |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,676,786 (GRCm39) |
N619K |
possibly damaging |
Het |
Mtor |
A |
G |
4: 148,622,938 (GRCm39) |
T1977A |
possibly damaging |
Het |
Nos2 |
T |
G |
11: 78,850,574 (GRCm39) |
L1144R |
possibly damaging |
Het |
Or52ae7 |
G |
C |
7: 103,119,596 (GRCm39) |
V117L |
probably benign |
Het |
Or6c68 |
G |
A |
10: 129,158,125 (GRCm39) |
C211Y |
probably damaging |
Het |
Or8k38 |
A |
T |
2: 86,488,188 (GRCm39) |
F205I |
probably benign |
Het |
Pals2 |
T |
A |
6: 50,157,418 (GRCm39) |
|
probably null |
Het |
Pcdhga9 |
C |
A |
18: 37,870,321 (GRCm39) |
S50Y |
probably damaging |
Het |
Pfn4 |
T |
A |
12: 4,825,487 (GRCm39) |
M108K |
probably damaging |
Het |
Prep |
T |
C |
10: 45,024,219 (GRCm39) |
|
probably null |
Het |
Qtrt1 |
T |
A |
9: 21,323,378 (GRCm39) |
H76Q |
probably damaging |
Het |
Rpa1 |
T |
A |
11: 75,231,171 (GRCm39) |
S73C |
possibly damaging |
Het |
Snapc3 |
T |
C |
4: 83,353,495 (GRCm39) |
L178P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,093,633 (GRCm39) |
F1340L |
probably damaging |
Het |
Srd5a3 |
T |
A |
5: 76,301,398 (GRCm39) |
I85K |
probably benign |
Het |
Taar2 |
C |
T |
10: 23,817,300 (GRCm39) |
T280M |
probably damaging |
Het |
Tgfb3 |
T |
C |
12: 86,116,237 (GRCm39) |
D177G |
probably benign |
Het |
Tpt1 |
A |
G |
14: 76,083,821 (GRCm39) |
D94G |
probably benign |
Het |
Trpm4 |
A |
G |
7: 44,954,240 (GRCm39) |
|
probably benign |
Het |
Trpv4 |
C |
T |
5: 114,763,171 (GRCm39) |
R746H |
probably benign |
Het |
Txndc2 |
T |
C |
17: 65,945,967 (GRCm39) |
D70G |
probably damaging |
Het |
Ugcg |
T |
A |
4: 59,219,530 (GRCm39) |
I289N |
possibly damaging |
Het |
Vmn2r2 |
C |
G |
3: 64,041,870 (GRCm39) |
D282H |
probably damaging |
Het |
Vmn2r50 |
A |
T |
7: 9,787,010 (GRCm39) |
N32K |
probably benign |
Het |
Wdpcp |
C |
T |
11: 21,671,244 (GRCm39) |
T495I |
probably benign |
Het |
Zfp961 |
T |
A |
8: 72,719,958 (GRCm39) |
C51S |
possibly damaging |
Het |
Zxdc |
C |
T |
6: 90,359,165 (GRCm39) |
A599V |
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 |
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 |
|
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 |
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'- GGCCTTTCTTAGCTTGCAAAC -3'
(R):5'- GCTTGGACCATAAATACTGCAG -3'
Sequencing Primer
(F):5'- GCTGGGATCTGAAAATCCTATACCG -3'
(R):5'- TACTGCAGAGAGAAAAGCCTTCTG -3'
|
Posted On |
2018-08-29 |