Incidental Mutation 'IGL02677:Usp5'
ID |
303172 |
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 # |
IGL02677
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
124791982-124806404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124796389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 570
(V570A)
|
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: V570A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041299 Gene: ENSMUSG00000038429 AA Change: V570A
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: V570A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000114000 Gene: ENSMUSG00000038429 AA Change: V570A
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: ENSMUST00000154189
|
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 |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
G |
T |
7: 43,150,519 (GRCm39) |
Y84* |
probably null |
Het |
Adam5 |
A |
G |
8: 25,302,395 (GRCm39) |
|
probably benign |
Het |
Aipl1 |
T |
C |
11: 71,920,222 (GRCm39) |
E282G |
possibly damaging |
Het |
Akp3 |
A |
G |
1: 87,052,994 (GRCm39) |
D61G |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,488,478 (GRCm39) |
S451P |
probably damaging |
Het |
Csnka2ip |
A |
G |
16: 64,298,675 (GRCm39) |
L119P |
probably damaging |
Het |
Ddx19a |
T |
C |
8: 111,716,241 (GRCm39) |
E53G |
probably benign |
Het |
Ddx50 |
C |
T |
10: 62,452,072 (GRCm39) |
R116Q |
unknown |
Het |
Ddx60 |
A |
T |
8: 62,441,166 (GRCm39) |
E1078D |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,396,368 (GRCm39) |
D116G |
probably damaging |
Het |
Dsg4 |
A |
G |
18: 20,597,933 (GRCm39) |
T668A |
possibly damaging |
Het |
Dspp |
A |
G |
5: 104,323,843 (GRCm39) |
T329A |
possibly damaging |
Het |
Eftud2 |
T |
C |
11: 102,737,440 (GRCm39) |
T554A |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,555,083 (GRCm39) |
|
probably benign |
Het |
Ext2 |
A |
T |
2: 93,537,590 (GRCm39) |
F599I |
probably damaging |
Het |
Fahd1 |
A |
T |
17: 25,068,504 (GRCm39) |
I191N |
probably damaging |
Het |
Fcrl2 |
A |
T |
3: 87,166,694 (GRCm39) |
S100T |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,692,883 (GRCm39) |
C181S |
probably damaging |
Het |
Garre1 |
T |
A |
7: 33,941,834 (GRCm39) |
|
probably benign |
Het |
Gcnt4 |
A |
G |
13: 97,083,741 (GRCm39) |
I346V |
probably benign |
Het |
Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
Kcnma1 |
A |
G |
14: 23,513,224 (GRCm39) |
Y392H |
probably damaging |
Het |
Klc2 |
T |
C |
19: 5,161,696 (GRCm39) |
Y298C |
probably damaging |
Het |
Lamb3 |
G |
A |
1: 193,021,830 (GRCm39) |
V1011I |
probably benign |
Het |
Ldb1 |
T |
C |
19: 46,024,594 (GRCm39) |
|
probably benign |
Het |
Mcph1 |
A |
G |
8: 18,675,609 (GRCm39) |
K11E |
probably damaging |
Het |
Myc |
A |
G |
15: 61,861,513 (GRCm39) |
H374R |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,391,344 (GRCm39) |
Y853C |
probably damaging |
Het |
Or4k38 |
A |
T |
2: 111,166,147 (GRCm39) |
I92N |
probably damaging |
Het |
Pakap |
C |
T |
4: 57,856,263 (GRCm39) |
P572S |
probably benign |
Het |
Pclo |
A |
G |
5: 14,726,943 (GRCm39) |
|
probably benign |
Het |
Pde3a |
G |
A |
6: 141,350,898 (GRCm39) |
|
probably benign |
Het |
Per1 |
T |
C |
11: 68,997,486 (GRCm39) |
V887A |
probably benign |
Het |
Prokr1 |
G |
A |
6: 87,565,350 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,319,643 (GRCm39) |
I1021V |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,810,033 (GRCm39) |
E344G |
probably benign |
Het |
Sec24c |
A |
T |
14: 20,739,710 (GRCm39) |
D529V |
probably damaging |
Het |
Slc1a6 |
T |
C |
10: 78,624,898 (GRCm39) |
V101A |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tap2 |
G |
A |
17: 34,431,021 (GRCm39) |
V374M |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,061,108 (GRCm39) |
D179E |
probably benign |
Het |
Tmem8b |
T |
C |
4: 43,686,092 (GRCm39) |
L241P |
probably damaging |
Het |
Tmprss11g |
T |
C |
5: 86,640,149 (GRCm39) |
D160G |
probably benign |
Het |
Trim30a |
C |
T |
7: 104,085,120 (GRCm39) |
C30Y |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,601,840 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
G |
1: 188,466,882 (GRCm39) |
R2849G |
probably damaging |
Het |
Vipr1 |
T |
C |
9: 121,489,349 (GRCm39) |
|
probably benign |
Het |
Zc2hc1c |
A |
C |
12: 85,336,850 (GRCm39) |
D169A |
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 |
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 |
2015-04-16 |