Incidental Mutation 'R8089:Usp5'
| ID |
629840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp5
|
| Ensembl Gene |
ENSMUSG00000038429 |
| Gene Name |
ubiquitin specific peptidase 5 (isopeptidase T) |
| Synonyms |
Ucht |
| MMRRC Submission |
067522-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8089 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124791982-124806404 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 124797373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047510]
[ENSMUST00000122110]
[ENSMUST00000142058]
[ENSMUST00000153306]
|
| AlphaFold |
P56399 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047510
|
| SMART Domains |
Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
29 |
78 |
4e-19 |
BLAST |
|
ZnF_UBP
|
198 |
253 |
6.47e-27 |
SMART |
|
low complexity region
|
497 |
516 |
N/A |
INTRINSIC |
|
UBA
|
656 |
694 |
3.12e-7 |
SMART |
|
UBA
|
724 |
761 |
8.63e-10 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122110
|
| SMART Domains |
Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
29 |
78 |
4e-19 |
BLAST |
|
ZnF_UBP
|
198 |
253 |
6.47e-27 |
SMART |
|
low complexity region
|
497 |
516 |
N/A |
INTRINSIC |
|
UBA
|
633 |
671 |
3.12e-7 |
SMART |
|
UBA
|
701 |
738 |
8.63e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142058
|
| SMART Domains |
Protein: ENSMUSP00000117439
Gene: ENSMUSG00000038429
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
29 |
78 |
4e-20 |
BLAST |
|
ZnF_UBP
|
180 |
235 |
6.47e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153306
|
| SMART Domains |
Protein: ENSMUSP00000118200
Gene: ENSMUSG00000038429
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_UBP
|
1 |
32 |
3e-7 |
BLAST |
|
ZnF_UBP
|
152 |
207 |
6.47e-27 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 94.7%
|
| Validation Efficiency |
93% (54/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,104,383 (GRCm39) |
V768I |
probably benign |
Het |
| Abcc8 |
G |
A |
7: 45,757,780 (GRCm39) |
T1323I |
probably benign |
Het |
| Adamtsl2 |
A |
G |
2: 26,994,809 (GRCm39) |
M828V |
probably benign |
Het |
| Agmo |
A |
G |
12: 37,397,306 (GRCm39) |
D153G |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,260,340 (GRCm39) |
V185D |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,595,968 (GRCm39) |
N414D |
probably damaging |
Het |
| Bin1 |
T |
A |
18: 32,562,236 (GRCm39) |
|
probably null |
Het |
| Ccar1 |
C |
A |
10: 62,626,770 (GRCm39) |
M1I |
probably null |
Het |
| Cdh26 |
T |
A |
2: 178,099,370 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
C |
T |
15: 47,532,603 (GRCm39) |
D1620N |
|
Het |
| Dennd4a |
A |
T |
9: 64,756,457 (GRCm39) |
N204I |
probably damaging |
Het |
| Dgkb |
G |
A |
12: 38,234,949 (GRCm39) |
S438N |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,021,897 (GRCm39) |
M1604T |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,684,971 (GRCm39) |
D456V |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,902,771 (GRCm39) |
T86M |
probably damaging |
Het |
| Idua |
T |
A |
5: 108,829,646 (GRCm39) |
M503K |
probably damaging |
Het |
| Ift70b |
T |
C |
2: 75,767,647 (GRCm39) |
T369A |
possibly damaging |
Het |
| Ighm |
T |
C |
12: 113,384,854 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,740,750 (GRCm39) |
S4676T |
unknown |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lmtk2 |
G |
A |
5: 144,093,718 (GRCm39) |
V232M |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,722,567 (GRCm39) |
V243A |
possibly damaging |
Het |
| Moxd1 |
A |
G |
10: 24,157,417 (GRCm39) |
T350A |
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,537,372 (GRCm39) |
W1175R |
probably damaging |
Het |
| Or10u4 |
A |
T |
10: 129,802,566 (GRCm39) |
M1K |
probably null |
Het |
| Or5h27 |
T |
G |
16: 59,006,073 (GRCm39) |
I258L |
unknown |
Het |
| Or8g26 |
T |
A |
9: 39,095,927 (GRCm39) |
V148E |
probably damaging |
Het |
| Pacsin2 |
A |
G |
15: 83,263,897 (GRCm39) |
I380T |
probably benign |
Het |
| Plcd1 |
A |
C |
9: 118,905,060 (GRCm39) |
C214G |
possibly damaging |
Het |
| Poglut3 |
C |
T |
9: 53,307,262 (GRCm39) |
A402V |
probably benign |
Het |
| Ptprm |
C |
A |
17: 66,990,483 (GRCm39) |
W1385L |
possibly damaging |
Het |
| Rab22a |
C |
T |
2: 173,530,013 (GRCm39) |
Q64* |
probably null |
Het |
| Rasa2 |
G |
T |
9: 96,435,177 (GRCm39) |
H604Q |
probably benign |
Het |
| Rasal1 |
G |
A |
5: 120,809,643 (GRCm39) |
G516D |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,804,056 (GRCm39) |
I120L |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rgs12 |
T |
C |
5: 35,177,692 (GRCm39) |
I742T |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,763,996 (GRCm39) |
T121A |
possibly damaging |
Het |
| Six5 |
T |
G |
7: 18,828,797 (GRCm39) |
F79C |
probably damaging |
Het |
| Tbx3 |
G |
A |
5: 119,818,634 (GRCm39) |
R423H |
probably damaging |
Het |
| Terf2ip |
C |
T |
8: 112,738,424 (GRCm39) |
T104M |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,805,703 (GRCm39) |
C234R |
probably damaging |
Het |
| Tnxb |
C |
G |
17: 34,891,763 (GRCm39) |
A702G |
unknown |
Het |
| Tspan1 |
T |
C |
4: 116,021,532 (GRCm39) |
K83R |
probably null |
Het |
| Ttn |
C |
T |
2: 76,728,406 (GRCm39) |
|
probably null |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,194 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Vmn2r110 |
G |
A |
17: 20,803,807 (GRCm39) |
T256I |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,486,717 (GRCm39) |
L464Q |
possibly damaging |
Het |
| Zscan4-ps3 |
C |
A |
7: 11,346,659 (GRCm39) |
H232N |
probably benign |
Het |
|
| Other mutations in Usp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Usp5
|
APN |
6 |
124,806,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00905:Usp5
|
APN |
6 |
124,792,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01584:Usp5
|
APN |
6 |
124,796,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01642:Usp5
|
APN |
6 |
124,797,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01787:Usp5
|
APN |
6 |
124,801,189 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02394:Usp5
|
APN |
6 |
124,799,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02677:Usp5
|
APN |
6 |
124,796,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03392:Usp5
|
APN |
6 |
124,803,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:Usp5
|
UTSW |
6 |
124,801,192 (GRCm39) |
missense |
probably benign |
0.06 |
|
BB014:Usp5
|
UTSW |
6 |
124,801,192 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0594:Usp5
|
UTSW |
6 |
124,794,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1522:Usp5
|
UTSW |
6 |
124,802,129 (GRCm39) |
missense |
probably benign |
|
|
R1719:Usp5
|
UTSW |
6 |
124,800,423 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2185:Usp5
|
UTSW |
6 |
124,794,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3115:Usp5
|
UTSW |
6 |
124,792,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4196:Usp5
|
UTSW |
6 |
124,801,901 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4347:Usp5
|
UTSW |
6 |
124,798,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4386:Usp5
|
UTSW |
6 |
124,795,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4500:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4501:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4526:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4527:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4528:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4684:Usp5
|
UTSW |
6 |
124,794,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4912:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4913:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4954:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4956:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4957:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4958:Usp5
|
UTSW |
6 |
124,799,593 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5071:Usp5
|
UTSW |
6 |
124,803,342 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6020:Usp5
|
UTSW |
6 |
124,794,576 (GRCm39) |
unclassified |
probably benign |
|
|
R6236:Usp5
|
UTSW |
6 |
124,795,441 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6370:Usp5
|
UTSW |
6 |
124,797,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7090:Usp5
|
UTSW |
6 |
124,806,357 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7317:Usp5
|
UTSW |
6 |
124,803,281 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7447:Usp5
|
UTSW |
6 |
124,798,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7572:Usp5
|
UTSW |
6 |
124,794,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7598:Usp5
|
UTSW |
6 |
124,803,342 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7927:Usp5
|
UTSW |
6 |
124,801,192 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7931:Usp5
|
UTSW |
6 |
124,801,409 (GRCm39) |
intron |
probably benign |
|
|
R8361:Usp5
|
UTSW |
6 |
124,801,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Usp5
|
UTSW |
6 |
124,800,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Usp5
|
UTSW |
6 |
124,794,394 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9115:Usp5
|
UTSW |
6 |
124,803,384 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9128:Usp5
|
UTSW |
6 |
124,800,414 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9227:Usp5
|
UTSW |
6 |
124,795,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9651:Usp5
|
UTSW |
6 |
124,799,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0058:Usp5
|
UTSW |
6 |
124,801,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Usp5
|
UTSW |
6 |
124,802,111 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGCCTTAGAGGATGTCC -3'
(R):5'- CTGCCTGTTTCCCATAGAGG -3'
Sequencing Primer
(F):5'- CTGCTTGACTTAGCCTGCTGG -3'
(R):5'- TTCCCATAGAGGAATTGCCG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation