Incidental Mutation 'R6370:Usp5'
| ID |
513465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp5
|
| Ensembl Gene |
ENSMUSG00000038429 |
| Gene Name |
ubiquitin specific peptidase 5 (isopeptidase T) |
| Synonyms |
Ucht |
| MMRRC Submission |
044520-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6370 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124791982-124806404 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124797391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 494
(D494E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047510]
[ENSMUST00000122110]
[ENSMUST00000142058]
[ENSMUST00000153306]
|
| AlphaFold |
P56399 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047510
AA Change: D494E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
AA Change: D494E
| 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 benign
Transcript: ENSMUST00000122110
AA Change: D494E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
AA Change: D494E
| 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 |
noncoding transcript
Transcript: ENSMUST00000129159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141042
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000146098
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154189
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
95% (54/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb6 |
A |
G |
2: 30,717,024 (GRCm39) |
V67A |
probably damaging |
Het |
| Atic |
T |
A |
1: 71,617,819 (GRCm39) |
F590I |
probably damaging |
Het |
| Atxn10 |
T |
C |
15: 85,277,586 (GRCm39) |
F351S |
probably damaging |
Het |
| Bcl2l13 |
A |
G |
6: 120,842,583 (GRCm39) |
N92S |
probably benign |
Het |
| Carm1 |
G |
T |
9: 21,498,815 (GRCm39) |
A518S |
probably benign |
Het |
| Ccar1 |
C |
T |
10: 62,600,308 (GRCm39) |
R541H |
probably damaging |
Het |
| Cfhr2 |
A |
T |
1: 139,750,065 (GRCm39) |
L96Q |
probably damaging |
Het |
| Chrnb4 |
A |
G |
9: 54,942,143 (GRCm39) |
L377S |
probably benign |
Het |
| Clcn3 |
A |
G |
8: 61,376,058 (GRCm39) |
Y639H |
probably damaging |
Het |
| Cngb1 |
C |
T |
8: 95,991,050 (GRCm39) |
M717I |
probably benign |
Het |
| Ctcf |
T |
C |
8: 106,390,852 (GRCm39) |
M153T |
probably benign |
Het |
| Cyp2b19 |
T |
C |
7: 26,462,783 (GRCm39) |
S222P |
probably benign |
Het |
| Dixdc1 |
A |
T |
9: 50,593,523 (GRCm39) |
|
probably null |
Het |
| Entpd2 |
G |
A |
2: 25,287,429 (GRCm39) |
G47S |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,405,943 (GRCm39) |
M1158T |
possibly damaging |
Het |
| Faah |
T |
C |
4: 115,860,253 (GRCm39) |
D333G |
probably damaging |
Het |
| Foxred2 |
T |
A |
15: 77,827,506 (GRCm39) |
T618S |
probably benign |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gpx5 |
A |
T |
13: 21,472,872 (GRCm39) |
|
probably null |
Het |
| Gtdc1 |
A |
G |
2: 44,646,334 (GRCm39) |
V98A |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,333,368 (GRCm39) |
I312T |
probably damaging |
Het |
| Krtap21-1 |
T |
C |
16: 89,200,519 (GRCm39) |
Y41C |
unknown |
Het |
| Larp6 |
A |
G |
9: 60,644,646 (GRCm39) |
E262G |
probably damaging |
Het |
| Lrrn1 |
A |
G |
6: 107,546,185 (GRCm39) |
Y661C |
probably damaging |
Het |
| Lsm14a |
A |
G |
7: 34,056,906 (GRCm39) |
V244A |
probably benign |
Het |
| Mfrp |
T |
C |
9: 44,017,558 (GRCm39) |
C517R |
probably damaging |
Het |
| Mtarc1 |
T |
C |
1: 184,527,689 (GRCm39) |
D257G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,907,825 (GRCm39) |
S1145P |
probably benign |
Het |
| Nosip |
G |
T |
7: 44,726,164 (GRCm39) |
|
probably null |
Het |
| Or4c100 |
T |
A |
2: 88,329,712 (GRCm39) |
C94* |
probably null |
Het |
| Or51f2 |
A |
T |
7: 102,526,377 (GRCm39) |
T17S |
probably benign |
Het |
| Or52n1 |
T |
C |
7: 104,383,124 (GRCm39) |
K149R |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,477,543 (GRCm39) |
S112P |
probably damaging |
Het |
| Pik3cb |
A |
T |
9: 98,922,987 (GRCm39) |
I1015K |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,155,973 (GRCm39) |
W818R |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,293 (GRCm39) |
M558K |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,367,904 (GRCm39) |
N4647K |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Rxrg |
T |
C |
1: 167,462,006 (GRCm39) |
V227A |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,089,825 (GRCm39) |
S341T |
possibly damaging |
Het |
| Skint5 |
T |
G |
4: 113,471,307 (GRCm39) |
Q983P |
unknown |
Het |
| Slc6a18 |
G |
A |
13: 73,816,278 (GRCm39) |
T367I |
probably benign |
Het |
| Slc7a1 |
A |
G |
5: 148,277,483 (GRCm39) |
L344P |
probably damaging |
Het |
| Slc7a6 |
T |
A |
8: 106,922,069 (GRCm39) |
F399I |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Sugt1 |
T |
C |
14: 79,847,774 (GRCm39) |
V208A |
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,045,107 (GRCm39) |
K480E |
probably damaging |
Het |
| Thop1 |
C |
T |
10: 80,913,817 (GRCm39) |
T186I |
probably benign |
Het |
| Trim55 |
G |
A |
3: 19,745,650 (GRCm39) |
E509K |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,980,821 (GRCm39) |
N469S |
unknown |
Het |
| Usp24 |
G |
T |
4: 106,237,718 (GRCm39) |
K1125N |
probably null |
Het |
| Vmn2r51 |
T |
C |
7: 9,832,143 (GRCm39) |
K481R |
probably damaging |
Het |
| Vps16 |
C |
A |
2: 130,285,304 (GRCm39) |
A787D |
probably damaging |
Het |
| Washc4 |
C |
T |
10: 83,407,226 (GRCm39) |
H488Y |
possibly damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,790,807 (GRCm39) |
A2053S |
probably benign |
Het |
| Zfp74 |
A |
T |
7: 29,631,835 (GRCm39) |
D136E |
probably damaging |
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 |
|
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 |
|
|
R8089:Usp5
|
UTSW |
6 |
124,797,373 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- CTGCTTGACTTAGCCTGCTG -3'
(R):5'- TGAGCCTCAATTTGTTCTCTGG -3'
Sequencing Primer
(F):5'- GCCTCGTGCCCCAAGTTATTC -3'
(R):5'- TGGCTGCCCAGACCTTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation