Incidental Mutation 'IGL02399:Usp13'
ID |
291819 |
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 # |
IGL02399
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
32871695-32992220 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32973209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 795
(D795E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103863
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072312]
[ENSMUST00000108228]
[ENSMUST00000172481]
|
AlphaFold |
Q5BKP2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072312
AA Change: D796E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000072155 Gene: ENSMUSG00000056900 AA Change: D796E
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: D795E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103863 Gene: ENSMUSG00000056900 AA Change: D795E
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: D152E
|
SMART Domains |
Protein: ENSMUSP00000117605 Gene: ENSMUSG00000056900 AA Change: D152E
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
C |
T |
2: 150,700,413 (GRCm39) |
|
probably benign |
Het |
Adarb1 |
G |
A |
10: 77,131,588 (GRCm39) |
P624S |
probably benign |
Het |
Afg3l2 |
A |
T |
18: 67,562,110 (GRCm39) |
F322I |
possibly damaging |
Het |
Arhgap23 |
A |
G |
11: 97,381,831 (GRCm39) |
|
probably benign |
Het |
Atp13a1 |
A |
G |
8: 70,259,751 (GRCm39) |
N1114S |
probably damaging |
Het |
C3ar1 |
T |
C |
6: 122,826,838 (GRCm39) |
N460D |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,279,493 (GRCm39) |
Y1988H |
probably damaging |
Het |
Calr |
T |
C |
8: 85,569,415 (GRCm39) |
|
probably benign |
Het |
D5Ertd579e |
A |
G |
5: 36,773,529 (GRCm39) |
S289P |
probably damaging |
Het |
Erbb4 |
G |
A |
1: 68,081,596 (GRCm39) |
|
probably benign |
Het |
Fam98a |
A |
G |
17: 75,845,936 (GRCm39) |
|
probably benign |
Het |
Gm3739 |
A |
T |
14: 18,505,274 (GRCm39) |
D83E |
possibly damaging |
Het |
Gm5420 |
A |
T |
10: 21,567,071 (GRCm39) |
|
noncoding transcript |
Het |
Heatr5b |
A |
G |
17: 79,135,396 (GRCm39) |
V245A |
probably damaging |
Het |
Kptn |
C |
A |
7: 15,861,038 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
T |
C |
11: 115,735,661 (GRCm39) |
C86R |
probably damaging |
Het |
Lrr1 |
T |
A |
12: 69,215,665 (GRCm39) |
C12* |
probably null |
Het |
Mcf2 |
T |
C |
X: 59,180,812 (GRCm39) |
D255G |
probably damaging |
Het |
Med13 |
A |
T |
11: 86,174,771 (GRCm39) |
|
probably benign |
Het |
Mthfd1 |
C |
T |
12: 76,364,406 (GRCm39) |
T735M |
probably damaging |
Het |
Nlrp2 |
C |
T |
7: 5,331,809 (GRCm39) |
A196T |
probably damaging |
Het |
Nnmt |
T |
C |
9: 48,514,838 (GRCm39) |
I60V |
probably damaging |
Het |
Odad2 |
G |
T |
18: 7,285,719 (GRCm39) |
Q215K |
probably benign |
Het |
Or4c110 |
T |
A |
2: 88,832,507 (GRCm39) |
T42S |
probably benign |
Het |
Or6ae1 |
A |
T |
7: 139,742,513 (GRCm39) |
S117T |
probably benign |
Het |
P2rx3 |
T |
C |
2: 84,853,571 (GRCm39) |
I140V |
probably benign |
Het |
Patj |
A |
G |
4: 98,480,173 (GRCm39) |
N1293D |
probably damaging |
Het |
Pitpnm2 |
G |
A |
5: 124,278,821 (GRCm39) |
|
probably benign |
Het |
Ppp1r26 |
T |
G |
2: 28,343,292 (GRCm39) |
V974G |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,116,973 (GRCm39) |
L1376* |
probably null |
Het |
Rab33a |
T |
A |
X: 47,608,584 (GRCm39) |
I36N |
probably damaging |
Het |
Rab3gap1 |
A |
T |
1: 127,855,840 (GRCm39) |
N493I |
possibly damaging |
Het |
Scara3 |
C |
A |
14: 66,170,559 (GRCm39) |
G107* |
probably null |
Het |
Siglec1 |
T |
C |
2: 130,913,098 (GRCm39) |
E1606G |
probably benign |
Het |
Skint9 |
A |
T |
4: 112,246,447 (GRCm39) |
Y222N |
possibly damaging |
Het |
Slc47a1 |
A |
T |
11: 61,253,884 (GRCm39) |
I185N |
probably damaging |
Het |
Slc47a2 |
C |
A |
11: 61,193,020 (GRCm39) |
|
probably benign |
Het |
Slc4a2 |
A |
G |
5: 24,639,711 (GRCm39) |
I506V |
probably damaging |
Het |
Slc9a4 |
A |
C |
1: 40,639,942 (GRCm39) |
I245L |
probably benign |
Het |
Smarcb1 |
T |
C |
10: 75,733,328 (GRCm39) |
T357A |
probably damaging |
Het |
Spata31d1d |
A |
G |
13: 59,877,954 (GRCm39) |
|
probably benign |
Het |
Stox2 |
T |
A |
8: 47,639,573 (GRCm39) |
I874F |
probably damaging |
Het |
Taar7b |
A |
T |
10: 23,876,050 (GRCm39) |
I72F |
probably damaging |
Het |
Tacc2 |
G |
A |
7: 130,225,129 (GRCm39) |
V605I |
probably benign |
Het |
Tef |
T |
C |
15: 81,699,301 (GRCm39) |
L34P |
probably damaging |
Het |
Trak2 |
A |
G |
1: 58,949,204 (GRCm39) |
V532A |
probably benign |
Het |
Vmn1r32 |
T |
A |
6: 66,529,913 (GRCm39) |
I288F |
probably benign |
Het |
Vmn1r75 |
T |
C |
7: 11,615,093 (GRCm39) |
I275T |
possibly damaging |
Het |
Zfp871 |
A |
T |
17: 32,993,329 (GRCm39) |
F615L |
probably benign |
Het |
Zfp941 |
G |
A |
7: 140,392,612 (GRCm39) |
T249M |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,917,137 (GRCm39) |
I370V |
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 |
IGL02390:Usp13
|
APN |
3 |
32,985,865 (GRCm39) |
nonsense |
probably null |
|
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 |