Incidental Mutation 'IGL01637:Usp13'
| ID |
93062 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp13
|
| Ensembl Gene |
ENSMUSG00000056900 |
| Gene Name |
ubiquitin specific peptidase 13 (isopeptidase T-3) |
| Synonyms |
ISOT3, 2700071E21Rik, IsoT-3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01637
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
32817546-32938071 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32919064 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 797
(S797T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072312]
[ENSMUST00000108228]
[ENSMUST00000172481]
|
| AlphaFold |
Q5BKP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072312
AA Change: S798T
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: S798T
| 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: S797T
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: S797T
| 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 |
unknown
Transcript: ENSMUST00000156769
AA Change: S154T
|
| SMART Domains |
Protein: ENSMUSP00000117605
Gene: ENSMUSG00000056900
AA Change: S154T
| Domain | Start | End | E-Value | Type |
|---|
|
UBA
|
9 |
47 |
1.25e-6 |
SMART |
|
UBA
|
81 |
118 |
1.19e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172481
|
| SMART Domains |
Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
T |
7: 28,904,684 (GRCm38) |
I384N |
probably damaging |
Het |
| Adsl |
G |
T |
15: 80,948,700 (GRCm38) |
Q51H |
probably null |
Het |
| Apcdd1 |
A |
G |
18: 62,937,286 (GRCm38) |
E208G |
probably damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,744,832 (GRCm38) |
R155* |
probably null |
Het |
| Atp9b |
T |
C |
18: 80,756,455 (GRCm38) |
E823G |
probably benign |
Het |
| Bmp1 |
A |
G |
14: 70,492,461 (GRCm38) |
W468R |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,759,917 (GRCm38) |
I281M |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,846,710 (GRCm38) |
T1392A |
probably benign |
Het |
| Dhx34 |
G |
T |
7: 16,205,473 (GRCm38) |
S665Y |
probably damaging |
Het |
| Dock1 |
A |
T |
7: 135,137,813 (GRCm38) |
|
probably null |
Het |
| Dpp7 |
T |
C |
2: 25,354,613 (GRCm38) |
N252S |
probably benign |
Het |
| Dyrk2 |
A |
G |
10: 118,860,507 (GRCm38) |
V282A |
probably damaging |
Het |
| Edrf1 |
T |
C |
7: 133,650,525 (GRCm38) |
L401P |
probably damaging |
Het |
| Epc1 |
A |
G |
18: 6,439,724 (GRCm38) |
V150A |
probably benign |
Het |
| Fam170a |
A |
T |
18: 50,281,667 (GRCm38) |
M127L |
possibly damaging |
Het |
| Fam19a3 |
C |
T |
3: 104,773,079 (GRCm38) |
V75M |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,777,205 (GRCm38) |
T277S |
probably damaging |
Het |
| Galntl5 |
T |
C |
5: 25,189,825 (GRCm38) |
|
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,598,312 (GRCm38) |
N56S |
probably damaging |
Het |
| Gfm2 |
T |
A |
13: 97,150,409 (GRCm38) |
V172E |
probably damaging |
Het |
| Gm10419 |
T |
C |
5: 108,372,358 (GRCm38) |
|
probably benign |
Het |
| Gm7293 |
A |
G |
9: 51,623,606 (GRCm38) |
|
noncoding transcript |
Het |
| Gstm3 |
T |
C |
3: 107,967,633 (GRCm38) |
E101G |
probably damaging |
Het |
| Ifnlr1 |
T |
C |
4: 135,686,545 (GRCm38) |
W2R |
possibly damaging |
Het |
| Ighv13-1 |
A |
T |
12: 114,267,733 (GRCm38) |
|
probably benign |
Het |
| Ighv7-1 |
T |
A |
12: 113,896,503 (GRCm38) |
I90F |
possibly damaging |
Het |
| Itga2b |
A |
G |
11: 102,455,583 (GRCm38) |
L1009P |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 93,039,853 (GRCm38) |
V1112A |
possibly damaging |
Het |
| Kif5a |
A |
T |
10: 127,245,368 (GRCm38) |
D232E |
possibly damaging |
Het |
| Klb |
G |
A |
5: 65,375,679 (GRCm38) |
|
probably null |
Het |
| Lrriq1 |
G |
A |
10: 103,215,628 (GRCm38) |
A421V |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 29,839,871 (GRCm38) |
R721C |
probably damaging |
Het |
| Mrpl48 |
G |
T |
7: 100,550,532 (GRCm38) |
|
probably benign |
Het |
| Myo18b |
T |
A |
5: 112,840,629 (GRCm38) |
R1030S |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,547,120 (GRCm38) |
H2101Q |
probably damaging |
Het |
| Nlrp3 |
C |
A |
11: 59,549,378 (GRCm38) |
L594I |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,146,060 (GRCm38) |
T2013I |
probably damaging |
Het |
| Olfr1018 |
A |
T |
2: 85,822,988 (GRCm38) |
T6S |
probably benign |
Het |
| Olfr131 |
G |
A |
17: 38,082,103 (GRCm38) |
L292F |
possibly damaging |
Het |
| Olfr593 |
C |
A |
7: 103,212,177 (GRCm38) |
R95S |
probably benign |
Het |
| Olfr812 |
A |
G |
10: 129,842,610 (GRCm38) |
L144P |
probably benign |
Het |
| Olfr845 |
T |
C |
9: 19,338,964 (GRCm38) |
F168S |
probably damaging |
Het |
| Panx3 |
T |
C |
9: 37,664,056 (GRCm38) |
D170G |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,540,034 (GRCm38) |
S783G |
unknown |
Het |
| Pde3b |
T |
A |
7: 114,526,901 (GRCm38) |
L790* |
probably null |
Het |
| Pik3r2 |
T |
C |
8: 70,772,348 (GRCm38) |
|
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,641,690 (GRCm38) |
F211L |
probably damaging |
Het |
| Rbl2 |
C |
T |
8: 91,106,438 (GRCm38) |
P666S |
probably benign |
Het |
| Rnf123 |
A |
G |
9: 108,058,238 (GRCm38) |
F979L |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 16,965,171 (GRCm38) |
D788E |
probably benign |
Het |
| Serpina3b |
A |
G |
12: 104,132,957 (GRCm38) |
T244A |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,148,513 (GRCm38) |
S541P |
unknown |
Het |
| Slc12a4 |
T |
C |
8: 105,960,707 (GRCm38) |
D60G |
possibly damaging |
Het |
| Stac2 |
T |
C |
11: 98,041,354 (GRCm38) |
E241G |
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,737,629 (GRCm38) |
Y120H |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,370,085 (GRCm38) |
F450I |
probably benign |
Het |
| Txnl1 |
A |
T |
18: 63,674,191 (GRCm38) |
I198N |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 46,956,654 (GRCm38) |
M1049K |
probably damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,139,900 (GRCm38) |
E136G |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,241,066 (GRCm38) |
T3623I |
probably damaging |
Het |
| Vmn1r173 |
A |
T |
7: 23,702,948 (GRCm38) |
T203S |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,645,736 (GRCm38) |
I1718N |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,159,646 (GRCm38) |
H676R |
probably benign |
Het |
|
| Other mutations in Usp13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Usp13
|
APN |
3 |
32,881,411 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL00949:Usp13
|
APN |
3 |
32,886,577 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
IGL01983:Usp13
|
APN |
3 |
32,917,459 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02002:Usp13
|
APN |
3 |
32,847,825 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02065:Usp13
|
APN |
3 |
32,933,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02390:Usp13
|
APN |
3 |
32,931,716 (GRCm38) |
nonsense |
probably null |
|
|
IGL02399:Usp13
|
APN |
3 |
32,919,060 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02535:Usp13
|
APN |
3 |
32,837,926 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL02863:Usp13
|
APN |
3 |
32,918,947 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03017:Usp13
|
APN |
3 |
32,915,712 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL03242:Usp13
|
APN |
3 |
32,902,069 (GRCm38) |
missense |
probably benign |
0.17 |
|
PIT4504001:Usp13
|
UTSW |
3 |
32,905,430 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0113:Usp13
|
UTSW |
3 |
32,817,876 (GRCm38) |
splice site |
probably benign |
|
|
R0233:Usp13
|
UTSW |
3 |
32,915,664 (GRCm38) |
splice site |
probably null |
|
|
R0233:Usp13
|
UTSW |
3 |
32,915,664 (GRCm38) |
splice site |
probably null |
|
|
R1241:Usp13
|
UTSW |
3 |
32,915,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1765:Usp13
|
UTSW |
3 |
32,915,770 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2105:Usp13
|
UTSW |
3 |
32,901,986 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2229:Usp13
|
UTSW |
3 |
32,917,551 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2381:Usp13
|
UTSW |
3 |
32,881,509 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2389:Usp13
|
UTSW |
3 |
32,905,464 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3801:Usp13
|
UTSW |
3 |
32,881,508 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R4062:Usp13
|
UTSW |
3 |
32,881,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4653:Usp13
|
UTSW |
3 |
32,837,924 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5123:Usp13
|
UTSW |
3 |
32,915,798 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5454:Usp13
|
UTSW |
3 |
32,905,436 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5527:Usp13
|
UTSW |
3 |
32,865,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5582:Usp13
|
UTSW |
3 |
32,911,589 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5589:Usp13
|
UTSW |
3 |
32,837,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5829:Usp13
|
UTSW |
3 |
32,886,523 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R6114:Usp13
|
UTSW |
3 |
32,854,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6625:Usp13
|
UTSW |
3 |
32,894,876 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6680:Usp13
|
UTSW |
3 |
32,881,469 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7175:Usp13
|
UTSW |
3 |
32,917,608 (GRCm38) |
nonsense |
probably null |
|
|
R7232:Usp13
|
UTSW |
3 |
32,865,871 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7242:Usp13
|
UTSW |
3 |
32,865,743 (GRCm38) |
splice site |
probably null |
|
|
R7263:Usp13
|
UTSW |
3 |
32,894,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7533:Usp13
|
UTSW |
3 |
32,918,942 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7716:Usp13
|
UTSW |
3 |
32,837,856 (GRCm38) |
nonsense |
probably null |
|
|
R7734:Usp13
|
UTSW |
3 |
32,837,905 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7943:Usp13
|
UTSW |
3 |
32,876,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8075:Usp13
|
UTSW |
3 |
32,931,703 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8141:Usp13
|
UTSW |
3 |
32,894,876 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8259:Usp13
|
UTSW |
3 |
32,917,599 (GRCm38) |
nonsense |
probably null |
|
|
R8722:Usp13
|
UTSW |
3 |
32,901,965 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8905:Usp13
|
UTSW |
3 |
32,881,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9060:Usp13
|
UTSW |
3 |
32,911,663 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9081:Usp13
|
UTSW |
3 |
32,881,393 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9260:Usp13
|
UTSW |
3 |
32,901,760 (GRCm38) |
intron |
probably benign |
|
|
R9576:Usp13
|
UTSW |
3 |
32,914,986 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
X0064:Usp13
|
UTSW |
3 |
32,886,589 (GRCm38) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation