Incidental Mutation 'R5513:Senp3'
| ID |
440190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp3
|
| Ensembl Gene |
ENSMUSG00000005204 |
| Gene Name |
SUMO/sentrin specific peptidase 3 |
| Synonyms |
Smt3ip1 |
| MMRRC Submission |
043073-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.661)
|
| Stock # |
R5513 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69563941-69572910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69567965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 425
(D425G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005336]
[ENSMUST00000066760]
[ENSMUST00000102589]
[ENSMUST00000163666]
|
| AlphaFold |
Q9EP97 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005336
AA Change: D425G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000005336
Gene: ENSMUSG00000005204
AA Change: D425G
| 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: ENSMUST00000066760
AA Change: D425G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066581
Gene: ENSMUSG00000005204
AA Change: D425G
| 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: ENSMUST00000102589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128355
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128519
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130440
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139299
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142206
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144033
|
| 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: ENSMUST00000163666
|
| SMART Domains |
Protein: ENSMUSP00000127034
Gene: ENSMUSG00000059796
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
51 |
249 |
3.61e-60 |
SMART |
|
HELICc
|
286 |
367 |
1.04e-33 |
SMART |
|
| Meta Mutation Damage Score |
0.1041 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (59/61) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,539,623 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
A |
6: 34,293,581 (GRCm39) |
|
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,015,060 (GRCm39) |
N434Y |
probably benign |
Het |
| Ampd2 |
A |
G |
3: 107,982,983 (GRCm39) |
I648T |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,619,259 (GRCm39) |
E1510G |
probably benign |
Het |
| Ano2 |
A |
C |
6: 126,016,285 (GRCm39) |
K939N |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,249,273 (GRCm39) |
Y8C |
probably damaging |
Het |
| Aspm |
A |
T |
1: 139,410,136 (GRCm39) |
I2609F |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,208,601 (GRCm39) |
S964T |
probably benign |
Het |
| Cd22 |
C |
T |
7: 30,566,450 (GRCm39) |
R823Q |
probably damaging |
Het |
| Cd74 |
T |
C |
18: 60,944,377 (GRCm39) |
C196R |
probably damaging |
Het |
| Cfap73 |
A |
T |
5: 120,769,777 (GRCm39) |
I82N |
probably damaging |
Het |
| Cidec |
A |
T |
6: 113,405,140 (GRCm39) |
Y177N |
probably damaging |
Het |
| Crb1 |
C |
T |
1: 139,164,559 (GRCm39) |
|
probably null |
Het |
| Cts7 |
T |
C |
13: 61,503,398 (GRCm39) |
K189E |
possibly damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,691,850 (GRCm39) |
Y358N |
probably damaging |
Het |
| Dab2ip |
A |
T |
2: 35,600,266 (GRCm39) |
H294L |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,167,402 (GRCm39) |
D502G |
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,971,890 (GRCm39) |
M2768K |
probably damaging |
Het |
| Etl4 |
C |
A |
2: 20,748,638 (GRCm39) |
S405R |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,781,252 (GRCm39) |
L19F |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,815,542 (GRCm39) |
N3758K |
possibly damaging |
Het |
| Fsip2 |
C |
G |
2: 82,781,256 (GRCm39) |
Q217E |
probably benign |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Hivep2 |
A |
T |
10: 14,008,417 (GRCm39) |
K1672* |
probably null |
Het |
| Igkv2-137 |
G |
A |
6: 67,532,998 (GRCm39) |
G54S |
possibly damaging |
Het |
| Ints8 |
A |
G |
4: 11,248,303 (GRCm39) |
V105A |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,449,948 (GRCm39) |
S2089F |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,633,850 (GRCm39) |
K774R |
probably damaging |
Het |
| Mcm4 |
T |
A |
16: 15,448,378 (GRCm39) |
Y393F |
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,309,479 (GRCm39) |
L324P |
probably damaging |
Het |
| Or4d6 |
A |
G |
19: 12,086,745 (GRCm39) |
L55P |
probably damaging |
Het |
| Or52n3 |
A |
T |
7: 104,530,706 (GRCm39) |
H264L |
probably damaging |
Het |
| Or5a3 |
G |
A |
19: 12,400,047 (GRCm39) |
V125I |
probably benign |
Het |
| Or9s13 |
T |
C |
1: 92,548,102 (GRCm39) |
V158A |
probably benign |
Het |
| Pld4 |
A |
G |
12: 112,728,988 (GRCm39) |
E19G |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,173 (GRCm39) |
E63G |
probably damaging |
Het |
| Ppig |
A |
G |
2: 69,580,703 (GRCm39) |
T746A |
probably benign |
Het |
| Prdm2 |
GCTCCTCCTCCTCCTCCTCCTCCTC |
GCTCCTCCTCCTCCTCCTCCTC |
4: 142,862,463 (GRCm39) |
|
probably benign |
Het |
| Rbm15b |
A |
G |
9: 106,763,316 (GRCm39) |
L284P |
probably benign |
Het |
| Relch |
G |
A |
1: 105,678,698 (GRCm39) |
V1130I |
probably damaging |
Het |
| Rhbdl3 |
T |
C |
11: 80,222,668 (GRCm39) |
V239A |
probably damaging |
Het |
| Sae1 |
T |
C |
7: 16,100,781 (GRCm39) |
E197G |
probably benign |
Het |
| Sdhaf2 |
C |
T |
19: 10,494,394 (GRCm39) |
R105H |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc46a1 |
T |
C |
11: 78,357,376 (GRCm39) |
F143S |
probably benign |
Het |
| Tom1 |
T |
A |
8: 75,783,848 (GRCm39) |
N52K |
probably damaging |
Het |
| Vmn1r11 |
A |
T |
6: 57,114,617 (GRCm39) |
T94S |
probably damaging |
Het |
| Zfp236 |
A |
G |
18: 82,676,147 (GRCm39) |
I390T |
probably damaging |
Het |
| Zfp709 |
A |
T |
8: 72,643,900 (GRCm39) |
H443L |
probably damaging |
Het |
| Zfp960 |
C |
T |
17: 17,307,996 (GRCm39) |
P237S |
possibly damaging |
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 |
|
IGL02942:Senp3
|
APN |
11 |
69,568,815 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTTCTACAATCACGCCTG -3'
(R):5'- GTTTGGTTAAATTGGGACAGGAAC -3'
Sequencing Primer
(F):5'- GTTTCTACAATCACGCCTGATACAC -3'
(R):5'- GGTTAAATTGGGACAGGAACTTATC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation