Incidental Mutation 'IGL02942:Senp3'
| ID |
364541 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Senp3
|
| Ensembl Gene |
ENSMUSG00000005204 |
| Gene Name |
SUMO/sentrin specific peptidase 3 |
| Synonyms |
Smt3ip1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.632)
|
| Stock # |
IGL02942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
69563941-69572910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69568815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 410
(D410G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005336]
[ENSMUST00000018896]
[ENSMUST00000066760]
[ENSMUST00000108648]
[ENSMUST00000180587]
|
| AlphaFold |
Q9EP97 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005336
AA Change: D410G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000005336
Gene: ENSMUSG00000005204
AA Change: D410G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
195 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
394 |
566 |
4.9e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018896
|
| SMART Domains |
Protein: ENSMUSP00000018896
Gene: ENSMUSG00000089669
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TNF
|
39 |
87 |
1e-22 |
BLAST |
|
low complexity region
|
101 |
106 |
N/A |
INTRINSIC |
|
TNF
|
107 |
240 |
7.41e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066760
AA Change: D410G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000066581
Gene: ENSMUSG00000005204
AA Change: D410G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
195 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
394 |
566 |
4.9e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108648
|
| SMART Domains |
Protein: ENSMUSP00000104288
Gene: ENSMUSG00000089669
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TNF
|
39 |
87 |
1e-22 |
BLAST |
|
TNF
|
97 |
224 |
6.21e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128355
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130440
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142206
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134942
|
| SMART Domains |
Protein: ENSMUSP00000114791
Gene: ENSMUSG00000005204
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C48
|
5 |
167 |
4.1e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180587
|
| SMART Domains |
Protein: ENSMUSP00000137973
Gene: ENSMUSG00000018752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
110 |
N/A |
INTRINSIC |
|
TNF
|
118 |
256 |
6.18e-10 |
SMART |
|
low complexity region
|
270 |
275 |
N/A |
INTRINSIC |
|
TNF
|
276 |
410 |
1.91e-2 |
SMART |
|
| 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 SENP3, 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
C |
15: 91,033,378 (GRCm39) |
D679E |
probably damaging |
Het |
| Adh6a |
A |
T |
3: 138,030,642 (GRCm39) |
D88V |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,809,707 (GRCm39) |
V1123I |
probably damaging |
Het |
| Apba1 |
T |
C |
19: 23,922,335 (GRCm39) |
V801A |
possibly damaging |
Het |
| Bcl2a1a |
C |
T |
9: 88,839,095 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
A |
G |
18: 34,743,680 (GRCm39) |
V215A |
possibly damaging |
Het |
| Cdk17 |
G |
A |
10: 93,074,830 (GRCm39) |
V454I |
probably benign |
Het |
| Chd5 |
G |
A |
4: 152,470,182 (GRCm39) |
G1876D |
probably damaging |
Het |
| Clec4g |
T |
C |
8: 3,768,356 (GRCm39) |
E125G |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,247,420 (GRCm39) |
G1602D |
probably damaging |
Het |
| Depdc7 |
A |
C |
2: 104,558,439 (GRCm39) |
L194R |
probably damaging |
Het |
| Dgke |
T |
G |
11: 88,946,195 (GRCm39) |
N202H |
probably benign |
Het |
| Dkk2 |
T |
A |
3: 131,883,798 (GRCm39) |
C233S |
probably damaging |
Het |
| Dmpk |
A |
C |
7: 18,826,166 (GRCm39) |
D542A |
probably damaging |
Het |
| Epb41l4a |
G |
A |
18: 34,007,254 (GRCm39) |
R246W |
probably damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,285,493 (GRCm39) |
Q1438L |
probably damaging |
Het |
| Gcgr |
A |
G |
11: 120,427,643 (GRCm39) |
|
probably null |
Het |
| Gm10295 |
T |
C |
7: 71,000,250 (GRCm39) |
K110R |
unknown |
Het |
| Ifrd1 |
A |
G |
12: 40,267,375 (GRCm39) |
|
probably null |
Het |
| Inpp5f |
A |
G |
7: 128,296,624 (GRCm39) |
T365A |
probably benign |
Het |
| Kcnn3 |
A |
G |
3: 89,559,383 (GRCm39) |
K551R |
probably benign |
Het |
| Lama2 |
A |
T |
10: 26,917,216 (GRCm39) |
N2236K |
probably damaging |
Het |
| Larp7 |
A |
T |
3: 127,337,844 (GRCm39) |
I405N |
possibly damaging |
Het |
| Meltf |
C |
A |
16: 31,709,596 (GRCm39) |
Y432* |
probably null |
Het |
| Mst1r |
C |
A |
9: 107,790,352 (GRCm39) |
T655K |
possibly damaging |
Het |
| Myh1 |
C |
T |
11: 67,093,308 (GRCm39) |
P133L |
probably damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or52r1c |
A |
T |
7: 102,735,405 (GRCm39) |
M222L |
probably benign |
Het |
| Or5b102 |
A |
T |
19: 13,041,552 (GRCm39) |
Q259L |
probably benign |
Het |
| Or6a2 |
A |
G |
7: 106,600,561 (GRCm39) |
S169P |
possibly damaging |
Het |
| Pfkl |
A |
T |
10: 77,835,967 (GRCm39) |
|
probably null |
Het |
| Plekhb2 |
T |
C |
1: 34,916,073 (GRCm39) |
M204T |
probably damaging |
Het |
| Ptp4a2 |
G |
A |
4: 129,738,986 (GRCm39) |
|
probably null |
Het |
| Rtp4 |
A |
G |
16: 23,431,704 (GRCm39) |
T79A |
probably benign |
Het |
| Slc16a5 |
T |
C |
11: 115,360,176 (GRCm39) |
F120L |
possibly damaging |
Het |
| Snrpe |
T |
C |
1: 133,536,669 (GRCm39) |
E37G |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,463,875 (GRCm39) |
T192A |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,668,960 (GRCm39) |
H742L |
possibly damaging |
Het |
| Syt12 |
T |
C |
19: 4,497,858 (GRCm39) |
S375G |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,657 (GRCm39) |
L265P |
probably benign |
Het |
| Tcp10a |
T |
A |
17: 7,597,318 (GRCm39) |
D158E |
probably damaging |
Het |
| Tesk2 |
A |
T |
4: 116,629,017 (GRCm39) |
H122L |
probably damaging |
Het |
| Tut7 |
T |
G |
13: 59,959,335 (GRCm39) |
N378H |
probably damaging |
Het |
| Unc93b1 |
T |
A |
19: 3,998,686 (GRCm39) |
M535K |
probably damaging |
Het |
| Vangl1 |
C |
A |
3: 102,091,347 (GRCm39) |
R246S |
probably damaging |
Het |
| Xpo5 |
C |
T |
17: 46,519,059 (GRCm39) |
T166I |
probably damaging |
Het |
| Zmiz2 |
T |
C |
11: 6,349,500 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Senp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00684:Senp3
|
APN |
11 |
69,564,919 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02227:Senp3
|
APN |
11 |
69,565,356 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02996:Senp3
|
APN |
11 |
69,565,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0784:Senp3
|
UTSW |
11 |
69,571,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2474:Senp3
|
UTSW |
11 |
69,564,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4619:Senp3
|
UTSW |
11 |
69,567,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4620:Senp3
|
UTSW |
11 |
69,567,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4737:Senp3
|
UTSW |
11 |
69,569,655 (GRCm39) |
nonsense |
probably null |
|
|
R4777:Senp3
|
UTSW |
11 |
69,569,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:Senp3
|
UTSW |
11 |
69,568,821 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5513:Senp3
|
UTSW |
11 |
69,567,965 (GRCm39) |
missense |
probably benign |
|
|
R5870:Senp3
|
UTSW |
11 |
69,569,048 (GRCm39) |
splice site |
probably null |
|
|
R7206:Senp3
|
UTSW |
11 |
69,569,557 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7735:Senp3
|
UTSW |
11 |
69,569,087 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8724:Senp3
|
UTSW |
11 |
69,564,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9228:Senp3
|
UTSW |
11 |
69,569,085 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9767:Senp3
|
UTSW |
11 |
69,569,013 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2015-12-18 |
Incidental Mutation