Incidental Mutation 'IGL02065:Usp13'
ID |
185601 |
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 # |
IGL02065
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
32871695-32992220 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 32987314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 837
(V837I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072155
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072312]
[ENSMUST00000108228]
|
AlphaFold |
Q5BKP2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072312
AA Change: V837I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072155 Gene: ENSMUSG00000056900 AA Change: V837I
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: V836I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103863 Gene: ENSMUSG00000056900 AA Change: V836I
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: ENSMUST00000156769
|
SMART Domains |
Protein: ENSMUSP00000117605 Gene: ENSMUSG00000056900
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
C |
T |
17: 46,623,827 (GRCm39) |
E770K |
possibly damaging |
Het |
Abhd17a |
C |
A |
10: 80,422,395 (GRCm39) |
A22S |
probably benign |
Het |
Actbl2 |
A |
G |
13: 111,392,225 (GRCm39) |
T187A |
probably benign |
Het |
Adgrl3 |
G |
A |
5: 81,660,064 (GRCm39) |
G278R |
probably damaging |
Het |
Apoh |
C |
A |
11: 108,305,131 (GRCm39) |
|
probably benign |
Het |
Atp2b2 |
A |
G |
6: 113,790,828 (GRCm39) |
F192S |
probably damaging |
Het |
Bdh1 |
T |
C |
16: 31,268,754 (GRCm39) |
I163T |
possibly damaging |
Het |
Bmp1 |
G |
T |
14: 70,723,660 (GRCm39) |
N725K |
probably damaging |
Het |
Bmp1 |
T |
A |
14: 70,727,547 (GRCm39) |
I679F |
probably damaging |
Het |
Bmp2 |
T |
A |
2: 133,402,844 (GRCm39) |
F132I |
probably benign |
Het |
Bpifb5 |
T |
C |
2: 154,069,103 (GRCm39) |
L140P |
probably damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Carmil3 |
T |
C |
14: 55,731,279 (GRCm39) |
|
probably benign |
Het |
Ccdc57 |
T |
C |
11: 120,764,586 (GRCm39) |
T730A |
possibly damaging |
Het |
Cdh10 |
G |
T |
15: 19,013,342 (GRCm39) |
K647N |
probably damaging |
Het |
Cdh17 |
A |
C |
4: 11,771,373 (GRCm39) |
|
probably benign |
Het |
Cep126 |
A |
G |
9: 8,099,925 (GRCm39) |
S870P |
probably benign |
Het |
Col6a4 |
T |
C |
9: 105,954,302 (GRCm39) |
T346A |
probably damaging |
Het |
Csmd3 |
A |
C |
15: 47,530,024 (GRCm39) |
V2592G |
probably damaging |
Het |
Dnajc16 |
A |
T |
4: 141,504,244 (GRCm39) |
F239I |
probably damaging |
Het |
Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
F5 |
G |
A |
1: 164,017,695 (GRCm39) |
V591M |
probably damaging |
Het |
Fchsd2 |
T |
G |
7: 100,826,429 (GRCm39) |
|
probably null |
Het |
Flad1 |
A |
T |
3: 89,316,294 (GRCm39) |
D89E |
probably damaging |
Het |
Fsd1 |
C |
A |
17: 56,303,499 (GRCm39) |
P457Q |
probably damaging |
Het |
Gm21985 |
A |
G |
2: 112,187,929 (GRCm39) |
D1012G |
possibly damaging |
Het |
Gon4l |
A |
G |
3: 88,764,517 (GRCm39) |
D366G |
probably null |
Het |
Hadha |
A |
G |
5: 30,347,843 (GRCm39) |
|
probably benign |
Het |
Kdr |
A |
G |
5: 76,122,513 (GRCm39) |
|
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,426,136 (GRCm39) |
K24R |
probably benign |
Het |
Map3k21 |
A |
G |
8: 126,668,397 (GRCm39) |
D661G |
probably benign |
Het |
Mical1 |
A |
T |
10: 41,360,407 (GRCm39) |
K615N |
possibly damaging |
Het |
Ncor1 |
T |
C |
11: 62,310,435 (GRCm39) |
K204E |
possibly damaging |
Het |
Nmral1 |
T |
A |
16: 4,534,346 (GRCm39) |
I32F |
probably benign |
Het |
Nrros |
T |
C |
16: 31,963,492 (GRCm39) |
D175G |
possibly damaging |
Het |
Or10ak8 |
G |
A |
4: 118,773,968 (GRCm39) |
T232I |
probably benign |
Het |
Or12j5 |
T |
C |
7: 140,084,077 (GRCm39) |
I98M |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,587,143 (GRCm39) |
F4713L |
possibly damaging |
Het |
Serpinb1b |
G |
A |
13: 33,275,301 (GRCm39) |
G142D |
possibly damaging |
Het |
Slc10a1 |
A |
G |
12: 81,007,248 (GRCm39) |
S178P |
possibly damaging |
Het |
Spint1 |
G |
A |
2: 119,068,698 (GRCm39) |
R144H |
probably benign |
Het |
Sult6b1 |
C |
T |
17: 79,196,504 (GRCm39) |
G213R |
probably damaging |
Het |
Themis3 |
G |
T |
17: 66,862,900 (GRCm39) |
H353N |
probably benign |
Het |
Tpr |
T |
C |
1: 150,289,525 (GRCm39) |
S619P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,645,134 (GRCm39) |
V11161E |
probably damaging |
Het |
Usp25 |
T |
C |
16: 76,880,670 (GRCm39) |
V677A |
probably benign |
Het |
Wdr62 |
A |
G |
7: 29,942,894 (GRCm39) |
V1001A |
possibly damaging |
Het |
Whrn |
A |
T |
4: 63,336,822 (GRCm39) |
I580N |
possibly damaging |
Het |
Wls |
T |
A |
3: 159,616,993 (GRCm39) |
V344D |
probably damaging |
Het |
Zan |
A |
T |
5: 137,385,222 (GRCm39) |
Y5070* |
probably null |
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 |
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 |
2014-05-07 |