Incidental Mutation 'IGL00481:Usp5'
| ID |
14747 |
| 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 # |
IGL00481
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124791982-124806404 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124806316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 15
(T15A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024206]
[ENSMUST00000024270]
[ENSMUST00000047510]
[ENSMUST00000122110]
[ENSMUST00000131847]
[ENSMUST00000142058]
[ENSMUST00000151674]
[ENSMUST00000153306]
[ENSMUST00000150120]
|
| AlphaFold |
P56399 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024206
|
| SMART Domains |
Protein: ENSMUSP00000024206
Gene: ENSMUSG00000023439
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
44 |
83 |
4.91e-8 |
SMART |
|
WD40
|
86 |
125 |
1.61e-3 |
SMART |
|
WD40
|
132 |
170 |
5.1e-6 |
SMART |
|
WD40
|
173 |
212 |
3.99e-8 |
SMART |
|
WD40
|
215 |
254 |
2.67e-9 |
SMART |
|
WD40
|
263 |
298 |
2e-1 |
SMART |
|
WD40
|
301 |
340 |
3.87e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024270
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047510
AA Change: T15A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
AA Change: T15A
| 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: T15A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
AA Change: T15A
| 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: ENSMUST00000129251
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134637
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142058
AA Change: T15A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117439
Gene: ENSMUSG00000038429
AA Change: T15A
| 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: ENSMUST00000136692
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151674
|
| 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 |
probably benign
Transcript: ENSMUST00000150120
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,240,969 (GRCm39) |
L944P |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,373,643 (GRCm39) |
S1885G |
probably damaging |
Het |
| Aqp3 |
A |
G |
4: 41,093,632 (GRCm39) |
Y261H |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,793,305 (GRCm39) |
N1380K |
probably damaging |
Het |
| Barx2 |
T |
C |
9: 31,758,141 (GRCm39) |
I266V |
unknown |
Het |
| BC034090 |
C |
T |
1: 155,108,267 (GRCm39) |
R360H |
probably benign |
Het |
| Bmal2 |
T |
A |
6: 146,711,164 (GRCm39) |
M56K |
probably benign |
Het |
| Ccnb2 |
T |
C |
9: 70,326,189 (GRCm39) |
K52E |
probably damaging |
Het |
| Ccp110 |
G |
A |
7: 118,329,220 (GRCm39) |
V868I |
possibly damaging |
Het |
| Cfap300 |
T |
C |
9: 8,042,432 (GRCm39) |
Y57C |
probably damaging |
Het |
| Cyld |
G |
T |
8: 89,433,918 (GRCm39) |
V236F |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,208,410 (GRCm39) |
|
probably benign |
Het |
| Ehmt1 |
G |
T |
2: 24,728,830 (GRCm39) |
A637E |
possibly damaging |
Het |
| Erlin1 |
G |
T |
19: 44,057,758 (GRCm39) |
Y22* |
probably null |
Het |
| Ezh1 |
A |
T |
11: 101,090,128 (GRCm39) |
M539K |
possibly damaging |
Het |
| Fancc |
A |
T |
13: 63,548,059 (GRCm39) |
I80N |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,503,977 (GRCm39) |
S4447N |
probably benign |
Het |
| Fem1al |
A |
G |
11: 29,774,755 (GRCm39) |
L234P |
probably damaging |
Het |
| Fhip2a |
A |
G |
19: 57,369,777 (GRCm39) |
E440G |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,395,439 (GRCm39) |
Q1822R |
possibly damaging |
Het |
| Iqgap1 |
C |
T |
7: 80,409,592 (GRCm39) |
V248I |
probably benign |
Het |
| Itch |
T |
C |
2: 155,054,943 (GRCm39) |
I749T |
probably damaging |
Het |
| Kcna10 |
T |
A |
3: 107,102,830 (GRCm39) |
M487K |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,386,092 (GRCm39) |
L223Q |
probably benign |
Het |
| Mtmr2 |
T |
C |
9: 13,697,212 (GRCm39) |
I84T |
probably benign |
Het |
| Myocd |
G |
A |
11: 65,077,980 (GRCm39) |
T477M |
probably damaging |
Het |
| Nfic |
A |
T |
10: 81,244,054 (GRCm39) |
V240E |
possibly damaging |
Het |
| Or4d2 |
A |
G |
11: 87,784,447 (GRCm39) |
I101T |
possibly damaging |
Het |
| Prkdc |
A |
T |
16: 15,608,330 (GRCm39) |
Y3044F |
probably benign |
Het |
| Prkg1 |
A |
G |
19: 30,549,022 (GRCm39) |
I636T |
probably benign |
Het |
| Ptpru |
A |
G |
4: 131,535,546 (GRCm39) |
V477A |
probably benign |
Het |
| Rab7b |
T |
A |
1: 131,626,329 (GRCm39) |
M119K |
possibly damaging |
Het |
| Sec61a1 |
T |
C |
6: 88,483,922 (GRCm39) |
|
probably benign |
Het |
| Sectm1b |
A |
G |
11: 120,946,799 (GRCm39) |
V32A |
probably benign |
Het |
| Shroom2 |
A |
G |
X: 151,406,219 (GRCm39) |
S1034P |
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,085,533 (GRCm39) |
I688N |
probably damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,835,301 (GRCm39) |
Y942C |
probably damaging |
Het |
| Smg1 |
C |
T |
7: 117,810,017 (GRCm39) |
R139K |
possibly damaging |
Het |
| Stt3b |
G |
A |
9: 115,080,915 (GRCm39) |
T574I |
probably benign |
Het |
| Thoc2 |
A |
G |
X: 40,968,768 (GRCm39) |
I76T |
possibly damaging |
Het |
| Tpm3 |
C |
T |
3: 89,995,024 (GRCm39) |
T180M |
probably damaging |
Het |
| Uqcrfs1 |
C |
A |
13: 30,724,908 (GRCm39) |
V211F |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,673,990 (GRCm39) |
S418G |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,768,147 (GRCm39) |
L122P |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,930 (GRCm39) |
E329V |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,653,046 (GRCm39) |
N846K |
possibly damaging |
Het |
| Zp1 |
G |
T |
19: 10,896,141 (GRCm39) |
P195T |
probably damaging |
Het |
|
| Other mutations in Usp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-12-06 |
Incidental Mutation