Incidental Mutation 'R7175:Usp13'
ID |
558530 |
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 |
045231-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7175 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
32871695-32992220 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 32971757 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 746
(Q746*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072155
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072312]
[ENSMUST00000108228]
[ENSMUST00000172481]
|
AlphaFold |
Q5BKP2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000072312
AA Change: Q746*
|
SMART Domains |
Protein: ENSMUSP00000072155 Gene: ENSMUSG00000056900 AA Change: Q746*
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 null
Transcript: ENSMUST00000108228
AA Change: Q745*
|
SMART Domains |
Protein: ENSMUSP00000103863 Gene: ENSMUSG00000056900 AA Change: Q745*
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 null
Transcript: ENSMUST00000156769
AA Change: Q102*
|
SMART Domains |
Protein: ENSMUSP00000117605 Gene: ENSMUSG00000056900 AA Change: Q102*
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 |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
G |
A |
12: 118,831,611 (GRCm39) |
T1247I |
probably benign |
Het |
Afdn |
T |
C |
17: 14,108,869 (GRCm39) |
L1479P |
probably damaging |
Het |
Alox12e |
T |
C |
11: 70,210,534 (GRCm39) |
R363G |
probably damaging |
Het |
Ank2 |
A |
T |
3: 126,740,590 (GRCm39) |
S1765T |
unknown |
Het |
Anks6 |
T |
C |
4: 47,046,268 (GRCm39) |
|
probably null |
Het |
Apob |
A |
C |
12: 8,057,034 (GRCm39) |
I1839L |
probably benign |
Het |
Bdp1 |
C |
A |
13: 100,186,478 (GRCm39) |
R1658I |
probably damaging |
Het |
Ccs |
T |
A |
19: 4,883,390 (GRCm39) |
D136V |
probably damaging |
Het |
Cd200 |
T |
C |
16: 45,220,578 (GRCm39) |
|
probably null |
Het |
Cirbp |
T |
C |
10: 80,006,297 (GRCm39) |
S130P |
probably benign |
Het |
Cpb1 |
A |
G |
3: 20,317,927 (GRCm39) |
I199T |
probably benign |
Het |
Csn3 |
C |
T |
5: 88,077,586 (GRCm39) |
R31C |
probably damaging |
Het |
Dcaf1 |
A |
T |
9: 106,735,775 (GRCm39) |
I908F |
probably benign |
Het |
Dhcr7 |
C |
T |
7: 143,399,227 (GRCm39) |
T199I |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 66,024,463 (GRCm39) |
Q277L |
probably benign |
Het |
Echdc2 |
C |
A |
4: 108,031,366 (GRCm39) |
P237T |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,838,237 (GRCm39) |
V3625A |
unknown |
Het |
Eif4g3 |
A |
G |
4: 137,853,526 (GRCm39) |
N364S |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,734,231 (GRCm39) |
I1170L |
probably benign |
Het |
Epha3 |
C |
T |
16: 63,403,863 (GRCm39) |
R746Q |
probably damaging |
Het |
Exosc5 |
G |
A |
7: 25,363,794 (GRCm39) |
C102Y |
probably damaging |
Het |
Fam91a1 |
A |
T |
15: 58,302,527 (GRCm39) |
Y289F |
probably benign |
Het |
Fbxo38 |
A |
C |
18: 62,648,544 (GRCm39) |
F665V |
probably benign |
Het |
Fcrl5 |
T |
C |
3: 87,353,645 (GRCm39) |
V330A |
probably benign |
Het |
Fer |
T |
A |
17: 64,231,090 (GRCm39) |
D280E |
probably benign |
Het |
Gpr158 |
A |
G |
2: 21,373,113 (GRCm39) |
H16R |
probably benign |
Het |
Gzmg |
C |
T |
14: 56,396,979 (GRCm39) |
M1I |
probably null |
Het |
Hectd4 |
C |
T |
5: 121,411,692 (GRCm39) |
A456V |
possibly damaging |
Het |
Hk2 |
T |
A |
6: 82,711,830 (GRCm39) |
Q613L |
probably benign |
Het |
Inhca |
A |
G |
9: 103,128,988 (GRCm39) |
|
probably null |
Het |
Itsn1 |
T |
C |
16: 91,664,938 (GRCm39) |
F1121L |
unknown |
Het |
Lztr1 |
G |
T |
16: 17,340,895 (GRCm39) |
C557F |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,694,634 (GRCm39) |
Y1119C |
probably damaging |
Het |
Nfkb1 |
A |
T |
3: 135,319,751 (GRCm39) |
L248Q |
probably damaging |
Het |
Or1a1 |
T |
A |
11: 74,087,004 (GRCm39) |
L225* |
probably null |
Het |
Or1p1b |
T |
C |
11: 74,130,803 (GRCm39) |
F138L |
probably benign |
Het |
Or2g7 |
T |
A |
17: 38,378,370 (GRCm39) |
S103T |
probably damaging |
Het |
Or52e19 |
T |
C |
7: 102,959,054 (GRCm39) |
V42A |
probably benign |
Het |
Otulinl |
A |
C |
15: 27,658,374 (GRCm39) |
D165E |
probably damaging |
Het |
Pate1 |
T |
G |
9: 35,596,408 (GRCm39) |
D119A |
probably damaging |
Het |
Pcdhgc4 |
T |
C |
18: 37,949,424 (GRCm39) |
V280A |
possibly damaging |
Het |
Pik3ap1 |
T |
C |
19: 41,275,929 (GRCm39) |
D717G |
probably damaging |
Het |
Prdm13 |
A |
T |
4: 21,679,473 (GRCm39) |
L339Q |
unknown |
Het |
Rasgrf1 |
T |
A |
9: 89,862,802 (GRCm39) |
N519K |
probably benign |
Het |
Rergl |
A |
G |
6: 139,473,533 (GRCm39) |
V39A |
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Sema4b |
T |
A |
7: 79,848,402 (GRCm39) |
M1K |
probably null |
Het |
Slc20a1 |
T |
G |
2: 129,052,662 (GRCm39) |
L648R |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,122,583 (GRCm39) |
S3476C |
probably damaging |
Het |
Speg |
A |
G |
1: 75,399,134 (GRCm39) |
T2194A |
probably benign |
Het |
Spns1 |
T |
C |
7: 125,972,961 (GRCm39) |
D215G |
probably damaging |
Het |
Tle4 |
A |
T |
19: 14,429,071 (GRCm39) |
V717E |
probably damaging |
Het |
Trim50 |
T |
A |
5: 135,382,151 (GRCm39) |
M1K |
probably null |
Het |
Trpa1 |
A |
G |
1: 14,963,431 (GRCm39) |
V597A |
possibly damaging |
Het |
Vmn1r35 |
A |
T |
6: 66,655,906 (GRCm39) |
W255R |
probably benign |
Het |
Vps35 |
A |
T |
8: 85,990,189 (GRCm39) |
|
probably null |
Het |
Vps54 |
T |
C |
11: 21,265,028 (GRCm39) |
|
probably null |
Het |
Zfp318 |
T |
A |
17: 46,697,774 (GRCm39) |
L210Q |
probably damaging |
Het |
Zfp319 |
C |
A |
8: 96,055,410 (GRCm39) |
K264N |
probably damaging |
Het |
Zfp62 |
C |
T |
11: 49,107,580 (GRCm39) |
S557L |
probably damaging |
Het |
Zgrf1 |
T |
C |
3: 127,357,239 (GRCm39) |
S822P |
probably damaging |
Het |
Zxdc |
A |
G |
6: 90,346,645 (GRCm39) |
D2G |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,742,727 (GRCm39) |
I769T |
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 |
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 |
|
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 |
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'- TGCCTGTTTTCAAGACAAAACCC -3'
(R):5'- GTGCATAAGTCCACCTCGAG -3'
Sequencing Primer
(F):5'- CCCAGACAGATTTTAGTCCAATTG -3'
(R):5'- ATAAGTCCACCTCGAGTCCCTC -3'
|
Posted On |
2019-06-26 |