Incidental Mutation 'IGL01584:Usp5'
ID |
91467 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Usp5
|
Ensembl Gene |
ENSMUSG00000038429 |
Gene Name |
ubiquitin specific peptidase 5 (isopeptidase T) |
Synonyms |
Ucht |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01584
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
124791982-124806404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124796350 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 583
(V583E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047510]
[ENSMUST00000122110]
[ENSMUST00000142058]
[ENSMUST00000153306]
|
AlphaFold |
P56399 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047510
AA Change: V583E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041299 Gene: ENSMUSG00000038429 AA Change: V583E
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 |
possibly damaging
Transcript: ENSMUST00000122110
AA Change: V583E
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114000 Gene: ENSMUSG00000038429 AA Change: V583E
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 |
noncoding transcript
Transcript: ENSMUST00000154189
|
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 |
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
G |
11: 110,195,749 (GRCm39) |
V570A |
probably damaging |
Het |
Abcb1a |
T |
C |
5: 8,748,637 (GRCm39) |
S323P |
possibly damaging |
Het |
Adcy8 |
C |
T |
15: 64,687,170 (GRCm39) |
D445N |
probably damaging |
Het |
Cdc14a |
A |
T |
3: 116,186,474 (GRCm39) |
Y102* |
probably null |
Het |
Cubn |
A |
G |
2: 13,313,472 (GRCm39) |
|
probably benign |
Het |
Dcaf7 |
T |
C |
11: 105,944,653 (GRCm39) |
S279P |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,511,567 (GRCm39) |
Q1514R |
probably damaging |
Het |
Dtx2 |
G |
A |
5: 136,055,420 (GRCm39) |
S369N |
possibly damaging |
Het |
Dusp11 |
A |
G |
6: 85,930,376 (GRCm39) |
F136S |
probably damaging |
Het |
Fbxo32 |
T |
C |
15: 58,047,632 (GRCm39) |
D227G |
probably damaging |
Het |
Flg2 |
T |
A |
3: 93,120,773 (GRCm39) |
V1215E |
unknown |
Het |
Flg2 |
A |
T |
3: 93,122,777 (GRCm39) |
D1649V |
unknown |
Het |
Gabbr2 |
T |
C |
4: 46,674,524 (GRCm39) |
K821R |
probably damaging |
Het |
Gga2 |
T |
C |
7: 121,590,761 (GRCm39) |
T516A |
probably benign |
Het |
Gm15446 |
T |
A |
5: 110,088,668 (GRCm39) |
*64K |
probably null |
Het |
Gm5900 |
T |
C |
7: 104,599,361 (GRCm39) |
|
noncoding transcript |
Het |
Il17rb |
A |
G |
14: 29,725,637 (GRCm39) |
F121S |
probably damaging |
Het |
Ip6k3 |
C |
A |
17: 27,370,034 (GRCm39) |
R128L |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,754,250 (GRCm39) |
|
probably benign |
Het |
Lrrn4 |
A |
G |
2: 132,719,996 (GRCm39) |
L268P |
probably damaging |
Het |
Mthfd1l |
C |
A |
10: 3,966,738 (GRCm39) |
S332R |
probably damaging |
Het |
Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
Or5t17 |
G |
A |
2: 86,832,495 (GRCm39) |
V61I |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,592,569 (GRCm39) |
E25G |
probably damaging |
Het |
Prima1 |
A |
T |
12: 103,169,047 (GRCm39) |
|
probably null |
Het |
Rbm26 |
A |
G |
14: 105,368,968 (GRCm39) |
V737A |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,616,644 (GRCm39) |
|
probably null |
Het |
Sema5b |
G |
T |
16: 35,465,793 (GRCm39) |
C114F |
probably damaging |
Het |
Spata31f1e |
A |
C |
4: 42,794,014 (GRCm39) |
S39R |
probably damaging |
Het |
Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
Svs3b |
T |
C |
2: 164,097,943 (GRCm39) |
Y126C |
probably benign |
Het |
Tmem171 |
T |
C |
13: 98,828,683 (GRCm39) |
|
probably null |
Het |
Tnrc6b |
T |
A |
15: 80,763,883 (GRCm39) |
W462R |
probably benign |
Het |
Trdmt1 |
T |
C |
2: 13,524,739 (GRCm39) |
R239G |
probably benign |
Het |
Utrn |
A |
G |
10: 12,602,111 (GRCm39) |
V639A |
probably benign |
Het |
Vmn1r206 |
T |
C |
13: 22,804,964 (GRCm39) |
K81R |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,383,197 (GRCm39) |
I599M |
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 |
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 |
|
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 |
|
Posted On |
2013-12-09 |