Incidental Mutation 'R5829:Usp13'
| ID |
450311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp13
|
| Ensembl Gene |
ENSMUSG00000056900 |
| Gene Name |
ubiquitin specific peptidase 13 (isopeptidase T-3) |
| Synonyms |
2700071E21Rik, IsoT-3, ISOT3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5829 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
32871695-32992220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 32940672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 395
(G395C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072312]
[ENSMUST00000108228]
[ENSMUST00000172481]
|
| AlphaFold |
Q5BKP2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072312
AA Change: G395C
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: G395C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
46 |
91 |
1e-17 |
BLAST |
|
low complexity region
|
116 |
134 |
N/A |
INTRINSIC |
|
ZnF_UBP
|
208 |
263 |
2.91e-20 |
SMART |
|
low complexity region
|
625 |
639 |
N/A |
INTRINSIC |
|
UBA
|
652 |
690 |
1.25e-6 |
SMART |
|
UBA
|
724 |
761 |
1.19e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108228
AA Change: G394C
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: G394C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
46 |
91 |
1e-17 |
BLAST |
|
low complexity region
|
115 |
133 |
N/A |
INTRINSIC |
|
ZnF_UBP
|
207 |
262 |
2.91e-20 |
SMART |
|
low complexity region
|
624 |
638 |
N/A |
INTRINSIC |
|
UBA
|
651 |
689 |
1.25e-6 |
SMART |
|
UBA
|
723 |
760 |
1.19e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172481
AA Change: G395C
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
AA Change: G395C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
46 |
91 |
9e-18 |
BLAST |
|
low complexity region
|
116 |
134 |
N/A |
INTRINSIC |
|
ZnF_UBP
|
208 |
263 |
2.91e-20 |
SMART |
|
Pfam:UCH
|
333 |
523 |
5.1e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Atp6v1e2 |
T |
C |
17: 87,252,144 (GRCm39) |
R85G |
probably benign |
Het |
| Bmpr1b |
T |
C |
3: 141,550,918 (GRCm39) |
H391R |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,647,899 (GRCm39) |
H69R |
probably damaging |
Het |
| Cimip2a |
G |
A |
2: 25,108,869 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
C |
T |
9: 79,540,955 (GRCm39) |
G2391R |
probably damaging |
Het |
| Dab2ip |
ATCCT |
ATCCTCCT |
2: 35,597,787 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
G |
A |
1: 77,421,631 (GRCm39) |
L284F |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,061,454 (GRCm39) |
S4346P |
probably damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,125,596 (GRCm39) |
|
probably null |
Het |
| Gcc1 |
C |
A |
6: 28,419,690 (GRCm39) |
|
probably benign |
Het |
| Gdf10 |
T |
C |
14: 33,654,674 (GRCm39) |
S394P |
probably damaging |
Het |
| Gdf9 |
C |
T |
11: 53,324,516 (GRCm39) |
T95M |
probably benign |
Het |
| Gpr179 |
G |
A |
11: 97,226,524 (GRCm39) |
S1877L |
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,292,547 (GRCm39) |
V380A |
probably damaging |
Het |
| Il17c |
G |
A |
8: 123,148,970 (GRCm39) |
R38Q |
probably damaging |
Het |
| Il17rd |
G |
A |
14: 26,814,042 (GRCm39) |
|
probably null |
Het |
| Iqch |
C |
T |
9: 63,332,639 (GRCm39) |
|
probably null |
Het |
| Lrrc37 |
C |
T |
11: 103,432,712 (GRCm39) |
E1310K |
possibly damaging |
Het |
| Mpp4 |
A |
T |
1: 59,168,101 (GRCm39) |
S456R |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,865,404 (GRCm38) |
Y601H |
probably damaging |
Het |
| Nrxn2 |
C |
T |
19: 6,540,879 (GRCm39) |
P936L |
probably benign |
Het |
| Or8b44 |
T |
A |
9: 38,410,545 (GRCm39) |
Y193* |
probably null |
Het |
| Pcdhb9 |
T |
C |
18: 37,534,942 (GRCm39) |
V312A |
probably damaging |
Het |
| Pex5l |
T |
C |
3: 33,060,139 (GRCm39) |
T211A |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,972,049 (GRCm39) |
T794A |
probably benign |
Het |
| Pla2g6 |
A |
G |
15: 79,171,893 (GRCm39) |
F710L |
possibly damaging |
Het |
| Repin1 |
A |
T |
6: 48,571,766 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
A |
T |
10: 39,682,902 (GRCm39) |
E340V |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,690,076 (GRCm39) |
S1158P |
probably damaging |
Het |
| S100a16 |
A |
T |
3: 90,449,454 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Scg2 |
A |
G |
1: 79,414,637 (GRCm39) |
S29P |
probably damaging |
Het |
| Sfrp5 |
T |
C |
19: 42,190,095 (GRCm39) |
Y119C |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,986 (GRCm39) |
T916A |
probably benign |
Het |
| Smpd3 |
A |
G |
8: 106,991,512 (GRCm39) |
V347A |
probably benign |
Het |
| Tmem212 |
C |
A |
3: 27,939,081 (GRCm39) |
C135F |
possibly damaging |
Het |
| Unc13c |
T |
A |
9: 73,600,650 (GRCm39) |
N1365Y |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,812 (GRCm39) |
N34S |
probably benign |
Het |
|
| Other mutations in Usp13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Usp13
|
APN |
3 |
32,935,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00949:Usp13
|
APN |
3 |
32,940,726 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01637:Usp13
|
APN |
3 |
32,973,213 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01983:Usp13
|
APN |
3 |
32,971,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02002:Usp13
|
APN |
3 |
32,901,974 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02065:Usp13
|
APN |
3 |
32,987,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02390:Usp13
|
APN |
3 |
32,985,865 (GRCm39) |
nonsense |
probably null |
|
|
IGL02399:Usp13
|
APN |
3 |
32,973,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02535:Usp13
|
APN |
3 |
32,892,075 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02863:Usp13
|
APN |
3 |
32,973,096 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03017:Usp13
|
APN |
3 |
32,969,861 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03242:Usp13
|
APN |
3 |
32,956,218 (GRCm39) |
missense |
probably benign |
0.17 |
|
PIT4504001:Usp13
|
UTSW |
3 |
32,959,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:Usp13
|
UTSW |
3 |
32,872,025 (GRCm39) |
splice site |
probably benign |
|
|
R0233:Usp13
|
UTSW |
3 |
32,969,813 (GRCm39) |
splice site |
probably null |
|
|
R0233:Usp13
|
UTSW |
3 |
32,969,813 (GRCm39) |
splice site |
probably null |
|
|
R1241:Usp13
|
UTSW |
3 |
32,969,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1765:Usp13
|
UTSW |
3 |
32,969,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2105:Usp13
|
UTSW |
3 |
32,956,135 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2229:Usp13
|
UTSW |
3 |
32,971,700 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2381:Usp13
|
UTSW |
3 |
32,935,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2389:Usp13
|
UTSW |
3 |
32,959,613 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3801:Usp13
|
UTSW |
3 |
32,935,657 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4062:Usp13
|
UTSW |
3 |
32,935,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Usp13
|
UTSW |
3 |
32,892,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5123:Usp13
|
UTSW |
3 |
32,969,947 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5454:Usp13
|
UTSW |
3 |
32,959,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5527:Usp13
|
UTSW |
3 |
32,919,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5582:Usp13
|
UTSW |
3 |
32,965,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Usp13
|
UTSW |
3 |
32,892,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Usp13
|
UTSW |
3 |
32,908,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6625:Usp13
|
UTSW |
3 |
32,949,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6680:Usp13
|
UTSW |
3 |
32,935,618 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7175:Usp13
|
UTSW |
3 |
32,971,757 (GRCm39) |
nonsense |
probably null |
|
|
R7232:Usp13
|
UTSW |
3 |
32,920,020 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7242:Usp13
|
UTSW |
3 |
32,919,892 (GRCm39) |
splice site |
probably null |
|
|
R7263:Usp13
|
UTSW |
3 |
32,949,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7533:Usp13
|
UTSW |
3 |
32,973,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7716:Usp13
|
UTSW |
3 |
32,892,005 (GRCm39) |
nonsense |
probably null |
|
|
R7734:Usp13
|
UTSW |
3 |
32,892,054 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7943:Usp13
|
UTSW |
3 |
32,931,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8075:Usp13
|
UTSW |
3 |
32,985,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8141:Usp13
|
UTSW |
3 |
32,949,025 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8259:Usp13
|
UTSW |
3 |
32,971,748 (GRCm39) |
nonsense |
probably null |
|
|
R8722:Usp13
|
UTSW |
3 |
32,956,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8905:Usp13
|
UTSW |
3 |
32,935,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9060:Usp13
|
UTSW |
3 |
32,965,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9081:Usp13
|
UTSW |
3 |
32,935,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9260:Usp13
|
UTSW |
3 |
32,955,909 (GRCm39) |
intron |
probably benign |
|
|
R9576:Usp13
|
UTSW |
3 |
32,969,135 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0064:Usp13
|
UTSW |
3 |
32,940,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGAGGAAACTTTGACAGTGG -3'
(R):5'- AATGAGGGCACACATATGGC -3'
Sequencing Primer
(F):5'- GAGTCAGAATACCAAGCTGTTTGTG -3'
(R):5'- GTGGGAACTCTGATACCCTCTAAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation