Incidental Mutation 'R7734:Usp13'
| ID |
596036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp13
|
| Ensembl Gene |
ENSMUSG00000056900 |
| Gene Name |
ubiquitin specific peptidase 13 (isopeptidase T-3) |
| Synonyms |
2700071E21Rik, IsoT-3, ISOT3 |
| MMRRC Submission |
045790-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7734 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
32871695-32992220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32892054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 78
(H78Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072312]
[ENSMUST00000108228]
[ENSMUST00000172481]
|
| AlphaFold |
Q5BKP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072312
AA Change: H78Y
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: H78Y
| 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 damaging
Transcript: ENSMUST00000108228
AA Change: H78Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: H78Y
| 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 |
probably benign
Transcript: ENSMUST00000172481
AA Change: H78Y
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
AA Change: H78Y
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa2 |
T |
C |
9: 69,398,764 (GRCm39) |
Y333H |
probably benign |
Het |
| Arid1a |
A |
T |
4: 133,408,679 (GRCm39) |
F1558I |
unknown |
Het |
| Aste1 |
A |
G |
9: 105,274,678 (GRCm39) |
D306G |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,596,590 (GRCm39) |
V843A |
possibly damaging |
Het |
| Atrip |
T |
A |
9: 108,894,574 (GRCm39) |
H451L |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,295,664 (GRCm39) |
D200G |
probably damaging |
Het |
| Ceacam19 |
A |
C |
7: 19,620,520 (GRCm39) |
M37R |
probably benign |
Het |
| Cemip |
G |
A |
7: 83,606,872 (GRCm39) |
R782* |
probably null |
Het |
| Cpe |
A |
T |
8: 65,070,654 (GRCm39) |
I197N |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,445,850 (GRCm39) |
P3307T |
|
Het |
| Cyp4a12b |
C |
A |
4: 115,268,937 (GRCm39) |
Q20K |
possibly damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,715,878 (GRCm39) |
Y332H |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,298,163 (GRCm39) |
H569R |
probably damaging |
Het |
| Dcp1b |
A |
G |
6: 119,192,244 (GRCm39) |
S387G |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,819 (GRCm39) |
M590T |
possibly damaging |
Het |
| Dixdc1 |
T |
G |
9: 50,613,268 (GRCm39) |
Q229P |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,977,144 (GRCm38) |
R181G |
probably benign |
Het |
| Dzip1l |
A |
T |
9: 99,549,735 (GRCm39) |
D735V |
probably damaging |
Het |
| Edem3 |
T |
C |
1: 151,694,336 (GRCm39) |
S890P |
probably benign |
Het |
| Fuom |
A |
G |
7: 139,679,455 (GRCm39) |
L155P |
unknown |
Het |
| Gm6408 |
C |
A |
5: 146,421,160 (GRCm39) |
S263* |
probably null |
Het |
| Helz |
C |
G |
11: 107,576,248 (GRCm39) |
S1814R |
unknown |
Het |
| Hrc |
T |
C |
7: 44,986,100 (GRCm39) |
L417P |
probably benign |
Het |
| Igdcc4 |
A |
C |
9: 65,039,035 (GRCm39) |
H894P |
probably damaging |
Het |
| Lgr6 |
C |
A |
1: 134,930,981 (GRCm39) |
V296L |
probably damaging |
Het |
| Map3k4 |
T |
A |
17: 12,482,998 (GRCm39) |
Y573F |
probably damaging |
Het |
| Mest |
T |
C |
6: 30,746,299 (GRCm39) |
Y296H |
unknown |
Het |
| Mettl21a |
C |
T |
1: 64,647,288 (GRCm39) |
V90M |
probably damaging |
Het |
| Mfsd4b1 |
A |
T |
10: 39,883,374 (GRCm39) |
N25K |
probably damaging |
Het |
| Mmd |
T |
A |
11: 90,167,579 (GRCm39) |
F203I |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,401,108 (GRCm39) |
V3028M |
probably benign |
Het |
| Nlrp1a |
T |
A |
11: 70,998,826 (GRCm39) |
N859I |
unknown |
Het |
| Nrcam |
T |
C |
12: 44,584,034 (GRCm39) |
L36P |
possibly damaging |
Het |
| Nup107 |
C |
A |
10: 117,593,917 (GRCm39) |
E759* |
probably null |
Het |
| Or14a259 |
A |
G |
7: 86,013,476 (GRCm39) |
I23T |
not run |
Het |
| Pcdh7 |
T |
G |
5: 57,876,976 (GRCm39) |
I177S |
probably damaging |
Het |
| Pde6a |
T |
C |
18: 61,365,938 (GRCm39) |
I221T |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,709,828 (GRCm39) |
N1497I |
probably damaging |
Het |
| Rmc1 |
T |
A |
18: 12,322,320 (GRCm39) |
I591N |
possibly damaging |
Het |
| Rpl4 |
T |
A |
9: 64,084,661 (GRCm39) |
H245Q |
probably benign |
Het |
| Rsf1 |
C |
CCACGGCGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
A |
G |
14: 65,968,600 (GRCm39) |
D291G |
possibly damaging |
Het |
| Septin14 |
T |
A |
5: 129,760,583 (GRCm39) |
I422L |
probably benign |
Het |
| Serpina1e |
T |
C |
12: 103,917,151 (GRCm39) |
K173E |
probably benign |
Het |
| Slc5a1 |
C |
T |
5: 33,318,279 (GRCm39) |
T644I |
probably benign |
Het |
| Slc6a13 |
A |
T |
6: 121,314,334 (GRCm39) |
T590S |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,578,658 (GRCm39) |
T938I |
possibly damaging |
Het |
| Stxbp1 |
A |
T |
2: 32,691,832 (GRCm39) |
D453E |
probably benign |
Het |
| Tcf12 |
C |
A |
9: 71,829,943 (GRCm39) |
V173L |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 49,099,368 (GRCm39) |
C146R |
probably damaging |
Het |
| Trim11 |
T |
C |
11: 58,869,180 (GRCm39) |
C39R |
probably damaging |
Het |
| Trim37 |
A |
G |
11: 87,068,821 (GRCm39) |
Y389C |
probably damaging |
Het |
| Ttll8 |
C |
T |
15: 88,798,368 (GRCm39) |
G789D |
probably damaging |
Het |
| Tubb2a |
C |
T |
13: 34,258,776 (GRCm39) |
S338N |
probably benign |
Het |
| Ulk2 |
G |
A |
11: 61,744,127 (GRCm39) |
Q50* |
probably null |
Het |
| Urgcp |
T |
C |
11: 5,666,406 (GRCm39) |
D687G |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,296 (GRCm39) |
D223E |
probably benign |
Het |
| Vwc2 |
G |
A |
11: 11,065,929 (GRCm39) |
A6T |
possibly damaging |
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 |
|
R5829:Usp13
|
UTSW |
3 |
32,940,672 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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 |
|
|
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'- AAGCCATCTTCGGTTCTGGC -3'
(R):5'- AGGAAGCTCTGAGAGTCTGC -3'
Sequencing Primer
(F):5'- AGAGTCACTGTAACCCTTTGCTGAG -3'
(R):5'- TCTGAGAGTCTGCACGCTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation