Incidental Mutation 'R7317:Usp5'
| ID |
563463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp5
|
| Ensembl Gene |
ENSMUSG00000038429 |
| Gene Name |
ubiquitin specific peptidase 5 (isopeptidase T) |
| Synonyms |
Ucht |
| MMRRC Submission |
045369-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7317 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124791982-124806404 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124803281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 73
(L73P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024270]
[ENSMUST00000047510]
[ENSMUST00000122110]
[ENSMUST00000131847]
[ENSMUST00000142058]
[ENSMUST00000150120]
[ENSMUST00000151674]
[ENSMUST00000153306]
|
| AlphaFold |
P56399 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024270
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047510
AA Change: L73P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
AA Change: L73P
| 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: L73P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
AA Change: L73P
| 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 |
probably benign
Transcript: ENSMUST00000131847
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000117439
Gene: ENSMUSG00000038429
AA Change: L73P
| 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 |
probably benign
Transcript: ENSMUST00000150120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151674
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153306
AA Change: L27P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118200
Gene: ENSMUSG00000038429
AA Change: L27P
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
G |
A |
5: 8,140,202 (GRCm39) |
P832L |
probably benign |
Het |
| Adamts17 |
C |
T |
7: 66,490,304 (GRCm39) |
R129* |
probably null |
Het |
| Alg5 |
G |
T |
3: 54,656,752 (GRCm39) |
R321L |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,486,515 (GRCm39) |
T460S |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,537,332 (GRCm39) |
E7G |
possibly damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,110,776 (GRCm39) |
T1000A |
unknown |
Het |
| Arap2 |
G |
A |
5: 62,807,067 (GRCm39) |
T1200M |
probably damaging |
Het |
| Asb2 |
A |
T |
12: 103,299,616 (GRCm39) |
I272N |
probably damaging |
Het |
| Bicd2 |
T |
C |
13: 49,531,784 (GRCm39) |
L342P |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,206 (GRCm39) |
I214F |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,364,534 (GRCm39) |
H587Q |
probably benign |
Het |
| Cfap70 |
T |
A |
14: 20,450,502 (GRCm39) |
I1010F |
possibly damaging |
Het |
| Chd1 |
A |
T |
17: 15,962,536 (GRCm39) |
K764N |
possibly damaging |
Het |
| Cluh |
A |
G |
11: 74,556,530 (GRCm39) |
D956G |
possibly damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,770,730 (GRCm39) |
D243G |
probably benign |
Het |
| Ercc4 |
T |
C |
16: 12,939,977 (GRCm39) |
V169A |
probably benign |
Het |
| Erich6 |
T |
C |
3: 58,544,305 (GRCm39) |
E94G |
probably benign |
Het |
| Fubp3 |
A |
G |
2: 31,494,624 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
C |
T |
17: 37,380,305 (GRCm39) |
T736I |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,963,072 (GRCm39) |
V200A |
probably benign |
Het |
| Gm14496 |
T |
A |
2: 181,637,613 (GRCm39) |
M229K |
possibly damaging |
Het |
| Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
| Gspt1 |
T |
C |
16: 11,040,521 (GRCm39) |
T596A |
probably benign |
Het |
| H1f4 |
A |
G |
13: 23,806,350 (GRCm39) |
I44T |
probably damaging |
Het |
| Htr5b |
T |
A |
1: 121,438,157 (GRCm39) |
Y358F |
probably damaging |
Het |
| Il18r1 |
A |
T |
1: 40,513,992 (GRCm39) |
Y66F |
possibly damaging |
Het |
| Il18rap |
A |
G |
1: 40,564,536 (GRCm39) |
T189A |
probably damaging |
Het |
| Irag2 |
G |
A |
6: 145,104,424 (GRCm39) |
G164R |
possibly damaging |
Het |
| Itgav |
G |
T |
2: 83,625,327 (GRCm39) |
A771S |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,705,518 (GRCm39) |
V324A |
possibly damaging |
Het |
| Krtap15-1 |
T |
C |
16: 88,626,193 (GRCm39) |
C87R |
probably benign |
Het |
| Mapk8ip3 |
C |
T |
17: 25,120,692 (GRCm39) |
G807D |
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,169,755 (GRCm39) |
D1642G |
probably benign |
Het |
| Med15 |
G |
T |
16: 17,489,507 (GRCm39) |
Q356K |
unknown |
Het |
| Mmp3 |
A |
G |
9: 7,446,937 (GRCm39) |
Y39C |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,849,851 (GRCm39) |
S1149P |
probably damaging |
Het |
| Msh3 |
A |
G |
13: 92,422,512 (GRCm39) |
I548T |
probably damaging |
Het |
| Noc2l |
T |
A |
4: 156,323,673 (GRCm39) |
V179E |
possibly damaging |
Het |
| Or4b1b |
A |
T |
2: 90,112,748 (GRCm39) |
M57K |
probably damaging |
Het |
| Or5k3 |
T |
G |
16: 58,969,684 (GRCm39) |
M157R |
possibly damaging |
Het |
| Or5p64 |
G |
T |
7: 107,854,425 (GRCm39) |
Q307K |
probably benign |
Het |
| Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdhb10 |
A |
T |
18: 37,546,079 (GRCm39) |
Q385L |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,592,329 (GRCm39) |
K105R |
probably damaging |
Het |
| Pex1 |
A |
T |
5: 3,668,875 (GRCm39) |
D582V |
probably damaging |
Het |
| Pheta1 |
A |
T |
5: 121,991,336 (GRCm39) |
T233S |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,223,496 (GRCm39) |
|
probably null |
Het |
| Pigw |
T |
C |
11: 84,768,066 (GRCm39) |
N421S |
probably benign |
Het |
| Plek |
T |
C |
11: 16,944,739 (GRCm39) |
K97R |
probably benign |
Het |
| R3hcc1l |
C |
T |
19: 42,571,979 (GRCm39) |
R753* |
probably null |
Het |
| R3hdml |
G |
A |
2: 163,344,367 (GRCm39) |
W252* |
probably null |
Het |
| Septin12 |
T |
C |
16: 4,809,599 (GRCm39) |
K238E |
probably damaging |
Het |
| Sgce |
G |
A |
6: 4,691,615 (GRCm39) |
T320I |
probably benign |
Het |
| Sidt2 |
A |
T |
9: 45,854,988 (GRCm39) |
C562* |
probably null |
Het |
| Skint8 |
T |
C |
4: 111,796,717 (GRCm39) |
C274R |
possibly damaging |
Het |
| Slc13a5 |
A |
T |
11: 72,135,953 (GRCm39) |
M529K |
probably damaging |
Het |
| Smg8 |
T |
G |
11: 86,976,391 (GRCm39) |
S397R |
possibly damaging |
Het |
| Spock3 |
G |
T |
8: 63,566,590 (GRCm39) |
R68L |
possibly damaging |
Het |
| Stau2 |
T |
A |
1: 16,530,553 (GRCm39) |
H122L |
unknown |
Het |
| Tent5a |
G |
C |
9: 85,206,670 (GRCm39) |
A376G |
possibly damaging |
Het |
| Tert |
G |
A |
13: 73,790,495 (GRCm39) |
R858H |
probably damaging |
Het |
| Tgm3 |
G |
A |
2: 129,890,211 (GRCm39) |
R658Q |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,672,918 (GRCm39) |
I455T |
probably benign |
Het |
| Tmtc4 |
G |
A |
14: 123,215,593 (GRCm39) |
P18S |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,890,959 (GRCm39) |
I1641T |
probably damaging |
Het |
| Trav14-3 |
A |
T |
14: 54,000,951 (GRCm39) |
N54I |
probably damaging |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Unc5c |
T |
A |
3: 141,495,703 (GRCm39) |
M524K |
probably benign |
Het |
| Unc93a |
A |
G |
17: 13,335,171 (GRCm39) |
F292L |
probably benign |
Het |
| Uso1 |
A |
G |
5: 92,321,851 (GRCm39) |
N248S |
possibly damaging |
Het |
| Utp20 |
T |
A |
10: 88,598,797 (GRCm39) |
I60F |
possibly damaging |
Het |
| Vmn2r94 |
T |
A |
17: 18,463,882 (GRCm39) |
I803F |
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 |
|
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 |
|
|
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'- GCACTCAAGCAATGATGTCC -3'
(R):5'- TTGGTTCCCCACACATACAAG -3'
Sequencing Primer
(F):5'- TCTATAAGGTTGAGCCAGCCG -3'
(R):5'- GGTTCCCCACACATACAAGTTTCATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation