Incidental Mutation 'IGL02390:Usp13'
| ID |
294211 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02390
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
32871695-32992220 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 32985865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 175
(Y175*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072312]
[ENSMUST00000108228]
|
| AlphaFold |
Q5BKP2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072312
AA Change: Y819*
|
| SMART Domains |
Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: Y819*
| 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 null
Transcript: ENSMUST00000108228
AA Change: Y818*
|
| SMART Domains |
Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: Y818*
| 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 null
Transcript: ENSMUST00000156769
AA Change: Y175*
|
| SMART Domains |
Protein: ENSMUSP00000117605
Gene: ENSMUSG00000056900
AA Change: Y175*
| Domain | Start | End | E-Value | Type |
|---|
|
UBA
|
9 |
47 |
1.25e-6 |
SMART |
|
UBA
|
81 |
118 |
1.19e-12 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,187,377 (GRCm39) |
K894R |
probably benign |
Het |
| Ampd1 |
C |
T |
3: 102,986,357 (GRCm39) |
A12V |
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,860,843 (GRCm39) |
D345V |
possibly damaging |
Het |
| Arl6 |
A |
G |
16: 59,441,580 (GRCm39) |
|
probably null |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Atrn |
C |
T |
2: 130,862,897 (GRCm39) |
P1326S |
possibly damaging |
Het |
| Btbd9 |
A |
G |
17: 30,743,788 (GRCm39) |
V238A |
probably benign |
Het |
| Cdh16 |
T |
C |
8: 105,348,606 (GRCm39) |
T141A |
probably damaging |
Het |
| Cetn4 |
T |
C |
3: 37,363,305 (GRCm39) |
D102G |
probably damaging |
Het |
| Col5a3 |
T |
A |
9: 20,688,292 (GRCm39) |
N1256I |
unknown |
Het |
| Cyfip2 |
A |
G |
11: 46,112,225 (GRCm39) |
F993L |
possibly damaging |
Het |
| Dcaf6 |
T |
A |
1: 165,250,490 (GRCm39) |
I125F |
possibly damaging |
Het |
| Dclk2 |
A |
C |
3: 86,731,990 (GRCm39) |
S336A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,049,819 (GRCm39) |
V4327I |
probably benign |
Het |
| Ebna1bp2 |
T |
C |
4: 118,478,694 (GRCm39) |
V59A |
possibly damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| F2 |
A |
T |
2: 91,463,332 (GRCm39) |
V184D |
possibly damaging |
Het |
| Fbxo38 |
C |
T |
18: 62,666,660 (GRCm39) |
R171H |
probably damaging |
Het |
| Fhod3 |
A |
C |
18: 25,199,332 (GRCm39) |
S668R |
probably benign |
Het |
| Fkbp10 |
T |
A |
11: 100,306,843 (GRCm39) |
F78L |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,947,643 (GRCm39) |
D455G |
probably damaging |
Het |
| Hyi |
C |
T |
4: 118,219,810 (GRCm39) |
R254C |
probably benign |
Het |
| Igfl3 |
A |
T |
7: 17,915,659 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,854,361 (GRCm39) |
I308F |
probably damaging |
Het |
| Lrrc8a |
C |
A |
2: 30,146,713 (GRCm39) |
P509Q |
probably damaging |
Het |
| Mapkap1 |
T |
A |
2: 34,322,101 (GRCm39) |
N6K |
probably damaging |
Het |
| Mdh1b |
T |
A |
1: 63,760,716 (GRCm39) |
H115L |
probably benign |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mrpl15 |
T |
C |
1: 4,855,837 (GRCm39) |
S22G |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,456,761 (GRCm39) |
Y616H |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,302,502 (GRCm39) |
|
probably benign |
Het |
| Olig1 |
C |
A |
16: 91,067,041 (GRCm39) |
Q93K |
probably damaging |
Het |
| Or13d1 |
T |
A |
4: 52,971,263 (GRCm39) |
I214N |
probably damaging |
Het |
| Or1o1 |
A |
T |
17: 37,716,986 (GRCm39) |
L182F |
probably benign |
Het |
| Or4f59 |
A |
T |
2: 111,873,056 (GRCm39) |
V107E |
possibly damaging |
Het |
| Otoa |
C |
A |
7: 120,730,590 (GRCm39) |
L597M |
possibly damaging |
Het |
| Parp16 |
C |
T |
9: 65,141,051 (GRCm39) |
P207L |
possibly damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,754,467 (GRCm39) |
D162E |
probably benign |
Het |
| Pramel21 |
T |
A |
4: 143,341,895 (GRCm39) |
M108K |
probably benign |
Het |
| Prdm10 |
A |
G |
9: 31,264,685 (GRCm39) |
I658V |
possibly damaging |
Het |
| Psg21 |
A |
T |
7: 18,386,556 (GRCm39) |
H143Q |
probably benign |
Het |
| Rfx4 |
C |
T |
10: 84,676,014 (GRCm39) |
R28W |
probably damaging |
Het |
| Sart1 |
T |
G |
19: 5,430,489 (GRCm39) |
M753L |
possibly damaging |
Het |
| Smcr8 |
T |
A |
11: 60,670,548 (GRCm39) |
D565E |
probably benign |
Het |
| Smyd4 |
T |
A |
11: 75,278,332 (GRCm39) |
|
probably null |
Het |
| Sned1 |
T |
C |
1: 93,189,386 (GRCm39) |
V274A |
probably benign |
Het |
| Tbc1d13 |
T |
C |
2: 30,027,399 (GRCm39) |
|
probably benign |
Het |
| Tox |
A |
T |
4: 6,697,534 (GRCm39) |
I423N |
possibly damaging |
Het |
| Tsc2 |
A |
T |
17: 24,819,427 (GRCm39) |
V1232D |
probably damaging |
Het |
| Uckl1 |
C |
T |
2: 181,216,212 (GRCm39) |
V178I |
possibly damaging |
Het |
| Vwde |
A |
G |
6: 13,190,684 (GRCm39) |
V469A |
probably 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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation