Incidental Mutation 'R4954:Usp5'
| ID |
381480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp5
|
| Ensembl Gene |
ENSMUSG00000038429 |
| Gene Name |
ubiquitin specific peptidase 5 (isopeptidase T) |
| Synonyms |
Ucht |
| MMRRC Submission |
042551-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4954 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124791982-124806404 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 124799593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 318
(K318N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047510]
[ENSMUST00000122110]
[ENSMUST00000142058]
[ENSMUST00000153306]
|
| AlphaFold |
P56399 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047510
AA Change: K318N
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
AA Change: K318N
| 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: K318N
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
AA Change: K318N
| 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 |
possibly damaging
Transcript: ENSMUST00000142058
AA Change: K300N
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117439
Gene: ENSMUSG00000038429
AA Change: K300N
| 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 |
|
| Meta Mutation Damage Score |
0.0822 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
| Alk |
C |
T |
17: 72,209,687 (GRCm39) |
W919* |
probably null |
Het |
| Aoc3 |
G |
A |
11: 101,222,925 (GRCm39) |
G387D |
probably damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,376,694 (GRCm39) |
C441S |
probably benign |
Het |
| Arhgap28 |
C |
A |
17: 68,176,008 (GRCm39) |
E100* |
probably null |
Het |
| Ate1 |
C |
T |
7: 130,110,748 (GRCm39) |
G186D |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,919,026 (GRCm39) |
L1948H |
probably damaging |
Het |
| Bmp2k |
C |
T |
5: 97,234,623 (GRCm39) |
|
probably benign |
Het |
| Ccin |
A |
T |
4: 43,985,077 (GRCm39) |
I495F |
probably benign |
Het |
| Cir1 |
T |
A |
2: 73,140,848 (GRCm39) |
E40D |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,765 (GRCm39) |
|
probably null |
Het |
| Dennd1b |
A |
G |
1: 138,981,124 (GRCm39) |
T113A |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,430,322 (GRCm39) |
P79S |
possibly damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,219,645 (GRCm39) |
D99G |
probably damaging |
Het |
| Enpep |
A |
T |
3: 129,077,829 (GRCm39) |
I596N |
probably damaging |
Het |
| Eps15 |
G |
A |
4: 109,227,875 (GRCm39) |
|
probably null |
Het |
| Ext1 |
T |
C |
15: 53,207,888 (GRCm39) |
D291G |
probably damaging |
Het |
| Gm12883 |
T |
C |
4: 121,252,198 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9921 |
A |
G |
12: 45,484,383 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T22 |
C |
A |
17: 36,352,851 (GRCm39) |
W85C |
probably damaging |
Het |
| Heatr1 |
G |
A |
13: 12,422,397 (GRCm39) |
|
probably null |
Het |
| Hspa4l |
T |
A |
3: 40,739,832 (GRCm39) |
|
probably null |
Het |
| Kcnc3 |
CTT |
CT |
7: 44,240,720 (GRCm39) |
|
probably null |
Het |
| Kpna1 |
T |
C |
16: 35,853,696 (GRCm39) |
V442A |
probably damaging |
Het |
| Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
| Musk |
C |
T |
4: 58,344,222 (GRCm39) |
T285I |
probably damaging |
Het |
| Myorg |
G |
A |
4: 41,498,241 (GRCm39) |
A463V |
possibly damaging |
Het |
| Nbea |
T |
G |
3: 55,943,379 (GRCm39) |
Q632P |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,907,706 (GRCm39) |
V1105A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,067,530 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
A |
T |
7: 23,061,318 (GRCm39) |
K970* |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,917,302 (GRCm39) |
|
probably benign |
Het |
| Or13g1 |
T |
C |
7: 85,955,809 (GRCm39) |
I171V |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,213,318 (GRCm39) |
M259V |
probably benign |
Het |
| Or52a24 |
A |
G |
7: 103,381,414 (GRCm39) |
I94V |
probably damaging |
Het |
| Otos |
T |
C |
1: 92,572,167 (GRCm39) |
Y53C |
probably damaging |
Het |
| Oxct2a |
A |
T |
4: 123,216,252 (GRCm39) |
C376* |
probably null |
Het |
| Pate12 |
A |
T |
9: 36,344,156 (GRCm39) |
K46N |
probably benign |
Het |
| Phf14 |
C |
A |
6: 11,987,619 (GRCm39) |
Q633K |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,700,602 (GRCm39) |
N1778I |
probably damaging |
Het |
| Psmc3 |
C |
T |
2: 90,885,974 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,544,274 (GRCm39) |
I177F |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,539,003 (GRCm39) |
D307G |
probably benign |
Het |
| Rps6ka2 |
G |
A |
17: 7,566,685 (GRCm39) |
V648I |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,587,725 (GRCm39) |
V1340M |
possibly damaging |
Het |
| Sema7a |
T |
C |
9: 57,863,663 (GRCm39) |
W279R |
probably damaging |
Het |
| Slc2a10 |
A |
T |
2: 165,356,675 (GRCm39) |
I112F |
probably damaging |
Het |
| Stk4 |
C |
A |
2: 163,993,601 (GRCm39) |
S77R |
possibly damaging |
Het |
| Stk4 |
T |
A |
2: 163,993,602 (GRCm39) |
W78R |
probably damaging |
Het |
| Syf2 |
T |
A |
4: 134,662,283 (GRCm39) |
L99* |
probably null |
Het |
| Tas2r104 |
A |
T |
6: 131,661,968 (GRCm39) |
I247K |
probably damaging |
Het |
| Usp15 |
G |
T |
10: 122,967,303 (GRCm39) |
R368S |
probably damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,047,905 (GRCm39) |
L20F |
probably benign |
Het |
| Zcchc4 |
A |
T |
5: 52,976,559 (GRCm39) |
H451L |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGCCCTCCTTAAGTAATGC -3'
(R):5'- CGAGGATGAGTCTTAGTCCAG -3'
Sequencing Primer
(F):5'- GGCCCTCCTTAAGTAATGCTAAAATG -3'
(R):5'- TCTTAGTCCAGAGCTTAGAGACG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation