Incidental Mutation 'IGL01787:Usp5'
| ID |
155088 |
| 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 # |
IGL01787
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124815019-124829484 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124824226 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 179
(D179E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047510]
[ENSMUST00000122110]
[ENSMUST00000142058]
[ENSMUST00000153306]
|
| AlphaFold |
P56399 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047510
AA Change: D225E
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
AA Change: D225E
| 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: D225E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
AA Change: D225E
| 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: ENSMUST00000141042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142058
AA Change: D207E
PolyPhen 2
Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000117439
Gene: ENSMUSG00000038429
AA Change: D207E
| 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 |
possibly damaging
Transcript: ENSMUST00000153306
AA Change: D179E
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118200
Gene: ENSMUSG00000038429
AA Change: D179E
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,753,322 |
S1772P |
probably benign |
Het |
| Epsti1 |
T |
C |
14: 77,972,612 |
|
probably null |
Het |
| Gm4758 |
T |
A |
16: 36,311,229 |
Y34N |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,571,147 |
L325Q |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,296,355 |
K902E |
possibly damaging |
Het |
| Nfkbie |
T |
C |
17: 45,556,263 |
L108P |
probably damaging |
Het |
| Olfr1263 |
A |
T |
2: 90,015,311 |
Y127F |
probably damaging |
Het |
| Olfr136 |
T |
A |
17: 38,335,579 |
C141S |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,450,283 |
D712G |
probably benign |
Het |
| Polr3k |
T |
C |
2: 181,864,458 |
|
probably benign |
Het |
| Shkbp1 |
A |
C |
7: 27,342,450 |
F660V |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,391,418 |
D1121G |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,723,022 |
D998E |
probably benign |
Het |
| Stab1 |
T |
C |
14: 31,139,808 |
D14G |
probably damaging |
Het |
| Tap1 |
T |
C |
17: 34,196,604 |
S641P |
probably benign |
Het |
| Tgm3 |
C |
T |
2: 130,047,740 |
S618F |
possibly damaging |
Het |
| Tgm6 |
T |
C |
2: 130,151,434 |
|
probably benign |
Het |
| Tmco5 |
A |
T |
2: 116,887,300 |
E194D |
probably damaging |
Het |
| Treml4 |
T |
A |
17: 48,264,704 |
V45E |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,081,734 |
M292K |
probably damaging |
Het |
| Ythdf1 |
A |
G |
2: 180,911,693 |
L216P |
probably damaging |
Het |
| Zfp948 |
C |
T |
17: 21,587,071 |
A175V |
probably benign |
Het |
|
| Other mutations in Usp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Usp5
|
APN |
6 |
124829353 |
missense |
probably benign |
0.00 |
|
IGL00905:Usp5
|
APN |
6 |
124815613 |
missense |
probably damaging |
1.00 |
|
IGL01584:Usp5
|
APN |
6 |
124819387 |
missense |
probably damaging |
1.00 |
|
IGL01642:Usp5
|
APN |
6 |
124820453 |
missense |
probably damaging |
0.99 |
|
IGL02394:Usp5
|
APN |
6 |
124822709 |
missense |
probably damaging |
1.00 |
|
IGL02677:Usp5
|
APN |
6 |
124819426 |
missense |
probably damaging |
1.00 |
|
IGL03392:Usp5
|
APN |
6 |
124826387 |
missense |
probably damaging |
1.00 |
|
BB004:Usp5
|
UTSW |
6 |
124824229 |
missense |
probably benign |
0.06 |
|
BB014:Usp5
|
UTSW |
6 |
124824229 |
missense |
probably benign |
0.06 |
|
R0594:Usp5
|
UTSW |
6 |
124817424 |
missense |
probably damaging |
0.99 |
|
R1522:Usp5
|
UTSW |
6 |
124825166 |
missense |
probably benign |
|
|
R1719:Usp5
|
UTSW |
6 |
124823460 |
missense |
possibly damaging |
0.94 |
|
R2185:Usp5
|
UTSW |
6 |
124817410 |
missense |
probably damaging |
0.99 |
|
R3115:Usp5
|
UTSW |
6 |
124815597 |
missense |
probably damaging |
1.00 |
|
R4196:Usp5
|
UTSW |
6 |
124824938 |
missense |
possibly damaging |
0.78 |
|
R4347:Usp5
|
UTSW |
6 |
124821195 |
missense |
probably damaging |
1.00 |
|
R4386:Usp5
|
UTSW |
6 |
124818474 |
critical splice donor site |
probably null |
|
|
R4500:Usp5
|
UTSW |
6 |
124822630 |
missense |
possibly damaging |
0.71 |
|
R4501:Usp5
|
UTSW |
6 |
124822630 |
missense |
possibly damaging |
0.71 |
|
R4526:Usp5
|
UTSW |
6 |
124822630 |
missense |
possibly damaging |
0.71 |
|
R4527:Usp5
|
UTSW |
6 |
124822630 |
missense |
possibly damaging |
0.71 |
|
R4528:Usp5
|
UTSW |
6 |
124822630 |
missense |
possibly damaging |
0.71 |
|
R4684:Usp5
|
UTSW |
6 |
124817956 |
missense |
probably damaging |
1.00 |
|
R4912:Usp5
|
UTSW |
6 |
124822630 |
missense |
possibly damaging |
0.71 |
|
R4913:Usp5
|
UTSW |
6 |
124822630 |
missense |
possibly damaging |
0.71 |
|
R4954:Usp5
|
UTSW |
6 |
124822630 |
missense |
possibly damaging |
0.71 |
|
R4956:Usp5
|
UTSW |
6 |
124822630 |
missense |
possibly damaging |
0.71 |
|
R4957:Usp5
|
UTSW |
6 |
124822630 |
missense |
possibly damaging |
0.71 |
|
R4958:Usp5
|
UTSW |
6 |
124822630 |
missense |
possibly damaging |
0.71 |
|
R5071:Usp5
|
UTSW |
6 |
124826379 |
missense |
probably benign |
0.13 |
|
R6020:Usp5
|
UTSW |
6 |
124817613 |
unclassified |
probably benign |
|
|
R6236:Usp5
|
UTSW |
6 |
124818478 |
missense |
probably benign |
0.05 |
|
R6370:Usp5
|
UTSW |
6 |
124820428 |
missense |
probably benign |
0.01 |
|
R7090:Usp5
|
UTSW |
6 |
124829394 |
start codon destroyed |
probably null |
|
|
R7317:Usp5
|
UTSW |
6 |
124826318 |
missense |
probably damaging |
0.98 |
|
R7447:Usp5
|
UTSW |
6 |
124821114 |
missense |
probably damaging |
1.00 |
|
R7572:Usp5
|
UTSW |
6 |
124818007 |
missense |
probably damaging |
0.99 |
|
R7598:Usp5
|
UTSW |
6 |
124826379 |
missense |
possibly damaging |
0.73 |
|
R7927:Usp5
|
UTSW |
6 |
124824229 |
missense |
probably benign |
0.06 |
|
R7931:Usp5
|
UTSW |
6 |
124824446 |
intron |
probably benign |
|
|
R8089:Usp5
|
UTSW |
6 |
124820410 |
critical splice donor site |
probably null |
|
|
R8361:Usp5
|
UTSW |
6 |
124824985 |
missense |
probably damaging |
1.00 |
|
R8544:Usp5
|
UTSW |
6 |
124823517 |
missense |
probably damaging |
1.00 |
|
R8679:Usp5
|
UTSW |
6 |
124817431 |
missense |
possibly damaging |
0.94 |
|
R9115:Usp5
|
UTSW |
6 |
124826421 |
missense |
probably damaging |
0.97 |
|
R9128:Usp5
|
UTSW |
6 |
124823451 |
critical splice donor site |
probably null |
|
|
R9227:Usp5
|
UTSW |
6 |
124818636 |
missense |
probably damaging |
1.00 |
|
R9651:Usp5
|
UTSW |
6 |
124822538 |
missense |
possibly damaging |
0.91 |
|
X0058:Usp5
|
UTSW |
6 |
124824176 |
missense |
probably damaging |
1.00 |
|
Z1177:Usp5
|
UTSW |
6 |
124825148 |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-02-04 |
Incidental Mutation