Incidental Mutation 'R8147:Senp5'
ID |
632882 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Senp5
|
Ensembl Gene |
ENSMUSG00000022772 |
Gene Name |
SUMO/sentrin specific peptidase 5 |
Synonyms |
A730063F07Rik, 6230429P13Rik |
MMRRC Submission |
067575-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8147 (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 T
at 31808128 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 375
(H375Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023457]
[ENSMUST00000129900]
[ENSMUST00000155515]
[ENSMUST00000231360]
|
AlphaFold |
Q6NXL6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023457
AA Change: H375Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000023457 Gene: ENSMUSG00000022772 AA Change: H375Q
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: ENSMUST00000129900
AA Change: H348Q
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000115257 Gene: ENSMUSG00000022772 AA Change: H348Q
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 |
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: H375Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.3%
|
Validation Efficiency |
100% (55/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
T |
C |
16: 56,562,876 (GRCm39) |
E487G |
probably damaging |
Het |
Aldh9a1 |
T |
A |
1: 167,184,949 (GRCm39) |
I287N |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,339,821 (GRCm39) |
N371K |
probably benign |
Het |
Atr |
T |
A |
9: 95,781,113 (GRCm39) |
F1392L |
probably damaging |
Het |
Bicra |
G |
A |
7: 15,722,395 (GRCm39) |
P374L |
possibly damaging |
Het |
Cacna1b |
C |
T |
2: 24,569,188 (GRCm39) |
R912Q |
probably damaging |
Het |
Cdhr1 |
T |
C |
14: 36,801,609 (GRCm39) |
N778S |
probably benign |
Het |
Cert1 |
C |
T |
13: 96,679,736 (GRCm39) |
P22L |
probably benign |
Het |
Dgat2 |
C |
T |
7: 98,806,187 (GRCm39) |
V337I |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,208,395 (GRCm39) |
D937G |
probably benign |
Het |
Dqx1 |
T |
C |
6: 83,037,222 (GRCm39) |
V295A |
probably benign |
Het |
Dsg3 |
A |
G |
18: 20,673,130 (GRCm39) |
T934A |
probably benign |
Het |
Fam81b |
A |
C |
13: 76,383,140 (GRCm39) |
V243G |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,305,051 (GRCm39) |
|
probably null |
Het |
Glrx3 |
G |
A |
7: 137,064,736 (GRCm39) |
S275N |
probably benign |
Het |
Igdcc4 |
A |
T |
9: 65,031,253 (GRCm39) |
Q397L |
probably benign |
Het |
Ints6 |
C |
T |
14: 62,951,186 (GRCm39) |
G281D |
probably damaging |
Het |
Kalrn |
A |
T |
16: 33,875,414 (GRCm39) |
S1722T |
probably benign |
Het |
Lrrc4b |
A |
G |
7: 44,111,829 (GRCm39) |
D567G |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,385,491 (GRCm39) |
L1200S |
probably damaging |
Het |
Mad1l1 |
G |
A |
5: 140,129,734 (GRCm39) |
R434C |
probably damaging |
Het |
Mia3 |
A |
T |
1: 183,109,062 (GRCm39) |
F358I |
|
Het |
Ncapd3 |
C |
T |
9: 26,942,014 (GRCm39) |
|
probably benign |
Het |
Nfkb2 |
A |
G |
19: 46,295,873 (GRCm39) |
R156G |
possibly damaging |
Het |
Nus1 |
T |
C |
10: 52,305,416 (GRCm39) |
|
probably null |
Het |
Or2y14 |
C |
T |
11: 49,405,050 (GRCm39) |
T195I |
probably benign |
Het |
Or4a79 |
T |
A |
2: 89,552,186 (GRCm39) |
I90F |
probably damaging |
Het |
Or4c31 |
T |
C |
2: 88,292,427 (GRCm39) |
F267L |
possibly damaging |
Het |
Or5aq1b |
T |
A |
2: 86,902,017 (GRCm39) |
I154F |
probably benign |
Het |
Pafah1b2 |
A |
G |
9: 45,895,147 (GRCm39) |
|
probably null |
Het |
Pold2 |
T |
C |
11: 5,826,842 (GRCm39) |
T31A |
probably benign |
Het |
Ppp1r12b |
T |
C |
1: 134,801,680 (GRCm39) |
N512S |
possibly damaging |
Het |
Prl8a8 |
A |
T |
13: 27,695,564 (GRCm39) |
L23Q |
probably damaging |
Het |
Ptprb |
T |
C |
10: 116,153,283 (GRCm39) |
V293A |
probably damaging |
Het |
Rpl18a |
G |
T |
8: 71,348,069 (GRCm39) |
T174N |
probably damaging |
Het |
Setbp1 |
A |
T |
18: 78,900,015 (GRCm39) |
F1217L |
probably damaging |
Het |
Skint4 |
A |
G |
4: 111,993,218 (GRCm39) |
I314V |
probably benign |
Het |
Slc28a2 |
A |
G |
2: 122,288,682 (GRCm39) |
D596G |
probably benign |
Het |
Stat5b |
A |
G |
11: 100,688,607 (GRCm39) |
I285T |
probably benign |
Het |
Sycp3 |
T |
C |
10: 88,298,467 (GRCm39) |
|
probably null |
Het |
Sympk |
T |
C |
7: 18,770,718 (GRCm39) |
F270L |
probably damaging |
Het |
Taar5 |
T |
C |
10: 23,846,749 (GRCm39) |
V49A |
probably damaging |
Het |
Tbx18 |
C |
T |
9: 87,606,411 (GRCm39) |
V245I |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,714,586 (GRCm39) |
M403T |
probably benign |
Het |
Tmprss11f |
A |
T |
5: 86,677,769 (GRCm39) |
F333L |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,589,213 (GRCm39) |
I46V |
probably benign |
Het |
Traf5 |
G |
T |
1: 191,746,984 (GRCm39) |
N112K |
probably damaging |
Het |
Trim12c |
A |
T |
7: 103,991,165 (GRCm39) |
M263K |
unknown |
Het |
Trim55 |
A |
G |
3: 19,727,011 (GRCm39) |
I359M |
probably benign |
Het |
Utp20 |
A |
T |
10: 88,594,306 (GRCm39) |
W2140R |
probably benign |
Het |
Vgll3 |
T |
C |
16: 65,624,964 (GRCm39) |
V104A |
probably damaging |
Het |
Vmn2r74 |
C |
A |
7: 85,605,227 (GRCm39) |
G474* |
probably null |
Het |
Vps18 |
G |
A |
2: 119,123,237 (GRCm39) |
A98T |
probably benign |
Het |
Zfand4 |
T |
A |
6: 116,291,169 (GRCm39) |
S387T |
probably damaging |
Het |
Zfp808 |
A |
G |
13: 62,320,934 (GRCm39) |
Y721C |
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 |
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 |
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'- GAACTAAGAATGCTCTGCTTCAG -3'
(R):5'- AACTGTCACGTGCCTGATGG -3'
Sequencing Primer
(F):5'- CCATCTGGAAGTTCTCATTCTGGG -3'
(R):5'- CGTGCCTGATGGTCACACTAAAG -3'
|
Posted On |
2020-06-30 |