Incidental Mutation 'R1241:Usp13'
ID |
151979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp13
|
Ensembl Gene |
ENSMUSG00000056900 |
Gene Name |
ubiquitin specific peptidase 13 (isopeptidase T-3) |
Synonyms |
2700071E21Rik, IsoT-3, ISOT3 |
MMRRC Submission |
039308-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1241 (G1)
|
Quality Score |
169 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
32871695-32992220 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32969857 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 661
(E661G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072155
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072312]
[ENSMUST00000108228]
[ENSMUST00000172481]
|
AlphaFold |
Q5BKP2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072312
AA Change: E661G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000072155 Gene: ENSMUSG00000056900 AA Change: E661G
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: E660G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103863 Gene: ENSMUSG00000056900 AA Change: E660G
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: E17G
|
SMART Domains |
Protein: ENSMUSP00000117605 Gene: ENSMUSG00000056900 AA Change: E17G
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 |
|
Meta Mutation Damage Score |
0.1912 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
9030619P08Rik |
A |
C |
15: 75,301,846 (GRCm39) |
|
noncoding transcript |
Het |
Aldh1l2 |
T |
C |
10: 83,331,889 (GRCm39) |
I639V |
probably benign |
Het |
Ambra1 |
T |
C |
2: 91,601,241 (GRCm39) |
|
probably benign |
Het |
Ap5z1 |
T |
C |
5: 142,455,869 (GRCm39) |
Y299H |
probably damaging |
Het |
Atp6v1b1 |
A |
T |
6: 83,733,526 (GRCm39) |
|
probably benign |
Het |
Atr |
G |
A |
9: 95,832,689 (GRCm39) |
V2574I |
probably benign |
Het |
Atxn1l |
T |
A |
8: 110,459,612 (GRCm39) |
T217S |
probably benign |
Het |
Ccdc85a |
A |
G |
11: 28,346,150 (GRCm39) |
S89P |
probably benign |
Het |
Ccn5 |
T |
A |
2: 163,670,997 (GRCm39) |
M168K |
unknown |
Het |
Cd209e |
A |
T |
8: 3,899,124 (GRCm39) |
I196N |
probably damaging |
Het |
Cdhr4 |
A |
G |
9: 107,872,495 (GRCm39) |
S247G |
probably benign |
Het |
Cntn6 |
A |
T |
6: 104,809,470 (GRCm39) |
I502F |
probably damaging |
Het |
Crisp4 |
T |
C |
1: 18,193,018 (GRCm39) |
Y233C |
probably damaging |
Het |
Ctsb |
C |
A |
14: 63,376,553 (GRCm39) |
T261N |
probably benign |
Het |
Ctsk |
T |
C |
3: 95,408,185 (GRCm39) |
F14L |
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,407,385 (GRCm39) |
I2110V |
probably damaging |
Het |
Dennd5b |
A |
G |
6: 148,969,988 (GRCm39) |
M155T |
probably benign |
Het |
Echdc3 |
T |
C |
2: 6,217,611 (GRCm39) |
D54G |
probably benign |
Het |
Egln3 |
G |
A |
12: 54,228,479 (GRCm39) |
T209I |
probably damaging |
Het |
Fbn1 |
A |
C |
2: 125,214,447 (GRCm39) |
|
probably benign |
Het |
Fkbp15 |
A |
T |
4: 62,222,846 (GRCm39) |
S1018T |
possibly damaging |
Het |
Flnb |
T |
C |
14: 7,896,503 (GRCm38) |
I898T |
probably benign |
Het |
Flt1 |
T |
A |
5: 147,536,456 (GRCm39) |
Y795F |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
C |
5: 73,267,614 (GRCm39) |
E417G |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,222,268 (GRCm39) |
|
probably benign |
Het |
Gcnt3 |
T |
C |
9: 69,941,615 (GRCm39) |
I318V |
probably benign |
Het |
Gm11437 |
T |
A |
11: 84,055,454 (GRCm39) |
H54L |
possibly damaging |
Het |
Huwe1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
X: 150,690,044 (GRCm39) |
|
probably benign |
Het |
Jarid2 |
G |
A |
13: 45,038,368 (GRCm39) |
|
probably benign |
Het |
Kif5b |
A |
T |
18: 6,214,044 (GRCm39) |
V653E |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,274,365 (GRCm39) |
V2113A |
probably damaging |
Het |
Knl1 |
C |
T |
2: 118,903,054 (GRCm39) |
T1585I |
probably benign |
Het |
Mlxipl |
T |
A |
5: 135,161,572 (GRCm39) |
M497K |
probably benign |
Het |
Mre11a |
T |
A |
9: 14,710,935 (GRCm39) |
W210R |
probably damaging |
Het |
Mrps22 |
A |
G |
9: 98,476,748 (GRCm39) |
V207A |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,390,256 (GRCm39) |
I2111V |
possibly damaging |
Het |
Myo1a |
C |
T |
10: 127,555,148 (GRCm39) |
P838L |
probably benign |
Het |
Nbea |
T |
A |
3: 55,965,461 (GRCm39) |
H484L |
probably damaging |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Nlrp2 |
T |
A |
7: 5,331,430 (GRCm39) |
D322V |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,636,947 (GRCm39) |
C1057R |
probably damaging |
Het |
Ntsr1 |
T |
C |
2: 180,142,394 (GRCm39) |
S62P |
probably damaging |
Het |
Nudt18 |
A |
G |
14: 70,816,867 (GRCm39) |
H157R |
probably benign |
Het |
Or10s1 |
C |
A |
9: 39,986,192 (GRCm39) |
N200K |
probably damaging |
Het |
Or5g25 |
T |
A |
2: 85,477,904 (GRCm39) |
T254S |
probably damaging |
Het |
Sidt2 |
T |
C |
9: 45,857,002 (GRCm39) |
T435A |
probably damaging |
Het |
Snx27 |
T |
C |
3: 94,427,540 (GRCm39) |
T312A |
probably benign |
Het |
Srebf2 |
T |
C |
15: 82,061,720 (GRCm39) |
S429P |
probably damaging |
Het |
Suclg2 |
A |
G |
6: 95,474,563 (GRCm39) |
|
probably benign |
Het |
Tchh |
A |
T |
3: 93,352,279 (GRCm39) |
E573V |
unknown |
Het |
Tdrd1 |
A |
G |
19: 56,850,192 (GRCm39) |
T985A |
probably benign |
Het |
Ttc7b |
A |
G |
12: 100,369,698 (GRCm39) |
I357T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,626,008 (GRCm39) |
E13271G |
probably damaging |
Het |
Vasp |
T |
G |
7: 18,992,958 (GRCm39) |
|
probably benign |
Het |
Vmn2r109 |
A |
T |
17: 20,775,503 (GRCm39) |
Y75N |
possibly damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,440,770 (GRCm39) |
N363Y |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,786,476 (GRCm39) |
N426K |
probably benign |
Het |
Znhit2 |
C |
A |
19: 6,112,288 (GRCm39) |
N344K |
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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGTAGACCCAATGCCACGCTG -3'
(R):5'- AGGCTACCATCCTCTTTAGGGTCAC -3'
Sequencing Primer
(F):5'- acaatccactccctactctatattc -3'
(R):5'- CTCTTTAGGGTCACAGCACTGG -3'
|
Posted On |
2014-01-29 |