Incidental Mutation 'IGL00949:Usp13'
ID |
27126 |
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 # |
IGL00949
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
32871695-32992220 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 32940726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 412
(E412K)
|
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: E413K
PolyPhen 2
Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000072155 Gene: ENSMUSG00000056900 AA Change: E413K
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 |
possibly damaging
Transcript: ENSMUST00000108228
AA Change: E412K
PolyPhen 2
Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103863 Gene: ENSMUSG00000056900 AA Change: E412K
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: E413K
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133823 Gene: ENSMUSG00000056900 AA Change: E413K
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl4 |
A |
G |
X: 141,126,325 (GRCm39) |
C303R |
probably damaging |
Het |
Als2 |
C |
T |
1: 59,254,731 (GRCm39) |
G209S |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,635,467 (GRCm39) |
T56A |
possibly damaging |
Het |
Arnt |
T |
A |
3: 95,394,579 (GRCm39) |
I381N |
probably damaging |
Het |
Atp13a1 |
T |
C |
8: 70,252,653 (GRCm39) |
|
probably benign |
Het |
Cd180 |
A |
T |
13: 102,830,268 (GRCm39) |
T21S |
possibly damaging |
Het |
Cdc27 |
T |
C |
11: 104,420,229 (GRCm39) |
Y138C |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,198,826 (GRCm39) |
T753A |
probably benign |
Het |
Dnah1 |
A |
G |
14: 31,029,047 (GRCm39) |
M561T |
probably benign |
Het |
Dsc3 |
C |
A |
18: 20,118,688 (GRCm39) |
G259C |
probably null |
Het |
Enox2 |
A |
T |
X: 48,129,484 (GRCm39) |
D346E |
probably benign |
Het |
Exoc3l |
T |
C |
8: 106,017,130 (GRCm39) |
E619G |
probably benign |
Het |
Exosc9 |
T |
C |
3: 36,617,415 (GRCm39) |
|
probably benign |
Het |
Gmpr2 |
C |
T |
14: 55,914,207 (GRCm39) |
|
probably benign |
Het |
Golga1 |
T |
C |
2: 38,931,267 (GRCm39) |
E289G |
probably damaging |
Het |
H3c1 |
G |
A |
13: 23,946,014 (GRCm39) |
T108I |
probably damaging |
Het |
Jmy |
A |
G |
13: 93,590,510 (GRCm39) |
V531A |
probably damaging |
Het |
Lamp2 |
T |
C |
X: 37,524,350 (GRCm39) |
N156S |
probably benign |
Het |
Lrrn1 |
C |
A |
6: 107,546,261 (GRCm39) |
N686K |
probably benign |
Het |
Lyst |
T |
C |
13: 13,810,070 (GRCm39) |
V580A |
possibly damaging |
Het |
Ms4a8a |
C |
A |
19: 11,056,808 (GRCm39) |
L91F |
probably benign |
Het |
Naip2 |
A |
G |
13: 100,298,099 (GRCm39) |
F646L |
probably damaging |
Het |
Npat |
T |
C |
9: 53,474,662 (GRCm39) |
V818A |
probably benign |
Het |
Or2w4 |
A |
T |
13: 21,795,521 (GRCm39) |
I206N |
probably damaging |
Het |
Padi3 |
C |
A |
4: 140,516,254 (GRCm39) |
R542L |
possibly damaging |
Het |
Pid1 |
A |
G |
1: 84,016,227 (GRCm39) |
V46A |
probably damaging |
Het |
Pld5 |
A |
T |
1: 175,803,039 (GRCm39) |
C409S |
probably damaging |
Het |
Plet1 |
A |
G |
9: 50,410,523 (GRCm39) |
T105A |
possibly damaging |
Het |
Polrmt |
T |
C |
10: 79,573,431 (GRCm39) |
|
probably null |
Het |
Pp2d1 |
T |
C |
17: 53,822,667 (GRCm39) |
N133S |
probably benign |
Het |
Prpf40b |
G |
T |
15: 99,204,419 (GRCm39) |
V228L |
probably benign |
Het |
Ptgfrn |
A |
T |
3: 100,980,161 (GRCm39) |
M393K |
probably benign |
Het |
Slc9a1 |
C |
T |
4: 133,143,762 (GRCm39) |
T416I |
probably benign |
Het |
Slc9c1 |
T |
C |
16: 45,413,721 (GRCm39) |
S950P |
probably benign |
Het |
Slitrk1 |
A |
T |
14: 109,149,241 (GRCm39) |
V490D |
probably damaging |
Het |
Th |
T |
C |
7: 142,450,763 (GRCm39) |
Y131C |
probably benign |
Het |
Tlr6 |
A |
G |
5: 65,110,855 (GRCm39) |
L684P |
probably damaging |
Het |
Tpm3 |
A |
G |
3: 89,997,165 (GRCm39) |
E234G |
probably damaging |
Het |
Tti1 |
A |
G |
2: 157,824,319 (GRCm39) |
Y1045H |
probably benign |
Het |
Txnl4b |
T |
A |
8: 110,295,707 (GRCm39) |
V37D |
probably benign |
Het |
Ufl1 |
A |
T |
4: 25,275,822 (GRCm39) |
F194I |
probably damaging |
Het |
Usp46 |
A |
T |
5: 74,163,903 (GRCm39) |
L251Q |
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 |
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 |
|
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 |
2013-04-17 |