Incidental Mutation 'R3115:Usp5'
ID |
263970 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp5
|
Ensembl Gene |
ENSMUSG00000038429 |
Gene Name |
ubiquitin specific peptidase 5 (isopeptidase T) |
Synonyms |
Ucht |
MMRRC Submission |
040588-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3115 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
124791982-124806404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124792560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 826
(Y826C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114000
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047510]
[ENSMUST00000047760]
[ENSMUST00000052727]
[ENSMUST00000112473]
[ENSMUST00000122110]
[ENSMUST00000172132]
[ENSMUST00000149610]
|
AlphaFold |
P56399 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047510
AA Change: Y849C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041299 Gene: ENSMUSG00000038429 AA Change: Y849C
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: ENSMUST00000047760
|
SMART Domains |
Protein: ENSMUSP00000041585 Gene: ENSMUSG00000038451
Domain | Start | End | E-Value | Type |
SPRY
|
86 |
220 |
9.85e-28 |
SMART |
SOCS
|
219 |
264 |
7.93e-13 |
SMART |
SOCS_box
|
225 |
264 |
8.27e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000052727
|
SMART Domains |
Protein: ENSMUSP00000060124 Gene: ENSMUSG00000038451
Domain | Start | End | E-Value | Type |
SPRY
|
86 |
220 |
9.85e-28 |
SMART |
SOCS
|
219 |
264 |
7.93e-13 |
SMART |
SOCS_box
|
225 |
264 |
8.27e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112473
|
SMART Domains |
Protein: ENSMUSP00000108092 Gene: ENSMUSG00000038451
Domain | Start | End | E-Value | Type |
SPRY
|
86 |
220 |
9.85e-28 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122110
AA Change: Y826C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114000 Gene: ENSMUSG00000038429 AA Change: Y826C
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: ENSMUST00000131805
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133251
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204602
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154189
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139716
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172132
|
SMART Domains |
Protein: ENSMUSP00000130858 Gene: ENSMUSG00000023456
Domain | Start | End | E-Value | Type |
Pfam:TIM
|
57 |
295 |
9.2e-86 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149610
|
SMART Domains |
Protein: ENSMUSP00000125292 Gene: ENSMUSG00000023456
Domain | Start | End | E-Value | Type |
Pfam:TIM
|
1 |
163 |
1.1e-65 |
PFAM |
|
Meta Mutation Damage Score |
0.9603 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
96% (47/49) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
G |
8: 87,266,653 (GRCm39) |
|
probably null |
Het |
Abcc9 |
T |
C |
6: 142,634,755 (GRCm39) |
T170A |
probably benign |
Het |
Agbl2 |
T |
C |
2: 90,636,245 (GRCm39) |
S594P |
possibly damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,964,331 (GRCm39) |
Y113C |
probably damaging |
Het |
Atf7 |
C |
T |
15: 102,442,858 (GRCm39) |
S417N |
probably benign |
Het |
Cacng7 |
T |
C |
7: 3,387,450 (GRCm39) |
V111A |
probably benign |
Het |
Chrm4 |
A |
G |
2: 91,757,705 (GRCm39) |
T38A |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
Dcx |
A |
G |
X: 142,706,105 (GRCm39) |
Y229H |
probably damaging |
Het |
Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
Glul |
T |
C |
1: 153,783,038 (GRCm39) |
F204L |
possibly damaging |
Het |
Grm2 |
A |
G |
9: 106,524,822 (GRCm39) |
V631A |
probably damaging |
Het |
Ifi205 |
T |
A |
1: 173,855,901 (GRCm39) |
Y43F |
possibly damaging |
Het |
Irs3 |
A |
G |
5: 137,642,118 (GRCm39) |
L440P |
probably benign |
Het |
Itpr1 |
A |
G |
6: 108,383,070 (GRCm39) |
D1466G |
possibly damaging |
Het |
Jarid2 |
T |
C |
13: 45,049,942 (GRCm39) |
S257P |
probably damaging |
Het |
Knl1 |
C |
A |
2: 118,900,872 (GRCm39) |
L858M |
possibly damaging |
Het |
Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
Lrriq1 |
C |
T |
10: 103,006,294 (GRCm39) |
R1277Q |
probably benign |
Het |
Mgp |
A |
C |
6: 136,849,683 (GRCm39) |
Y92D |
probably damaging |
Het |
Micu3 |
A |
G |
8: 40,835,208 (GRCm39) |
H521R |
probably benign |
Het |
Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
Moxd1 |
G |
T |
10: 24,177,429 (GRCm39) |
E582* |
probably null |
Het |
Mprip |
T |
A |
11: 59,656,229 (GRCm39) |
|
probably null |
Het |
Mybph |
A |
G |
1: 134,122,476 (GRCm39) |
I174V |
probably benign |
Het |
Mynn |
C |
T |
3: 30,661,959 (GRCm39) |
T347M |
probably damaging |
Het |
Nhsl1 |
A |
T |
10: 18,400,916 (GRCm39) |
Q714L |
probably damaging |
Het |
Nr1d2 |
A |
T |
14: 18,215,504 (GRCm38) |
|
probably null |
Het |
Or10g3 |
T |
C |
14: 52,610,397 (GRCm39) |
T38A |
probably damaging |
Het |
Or2a5 |
T |
C |
6: 42,873,784 (GRCm39) |
V133A |
probably benign |
Het |
Or52h9 |
C |
A |
7: 104,202,295 (GRCm39) |
H56Q |
probably benign |
Het |
Or5p61 |
T |
C |
7: 107,759,029 (GRCm39) |
E17G |
probably benign |
Het |
Pcdha4 |
T |
C |
18: 37,086,603 (GRCm39) |
V262A |
probably benign |
Het |
Pde4d |
T |
A |
13: 110,084,792 (GRCm39) |
M519K |
probably damaging |
Het |
Phactr2 |
C |
A |
10: 13,137,645 (GRCm39) |
E166* |
probably null |
Het |
Prdx4 |
C |
T |
X: 154,113,407 (GRCm39) |
R167Q |
probably damaging |
Het |
Prkdc |
C |
T |
16: 15,482,222 (GRCm39) |
L422F |
probably benign |
Het |
Prph |
T |
A |
15: 98,953,337 (GRCm39) |
F84I |
probably damaging |
Het |
Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
Serpinb13 |
A |
T |
1: 106,910,568 (GRCm39) |
E64V |
probably null |
Het |
Slc12a4 |
A |
T |
8: 106,686,091 (GRCm39) |
S81T |
probably damaging |
Het |
Slc47a1 |
A |
G |
11: 61,258,506 (GRCm39) |
L179P |
possibly damaging |
Het |
Sp140l2 |
C |
G |
1: 85,235,106 (GRCm39) |
|
probably benign |
Het |
Spata31e5 |
A |
C |
1: 28,815,410 (GRCm39) |
V874G |
possibly damaging |
Het |
Sycp2l |
C |
A |
13: 41,302,274 (GRCm39) |
T456K |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,914,193 (GRCm39) |
L2447P |
probably damaging |
Het |
Tll1 |
A |
G |
8: 64,506,900 (GRCm39) |
C614R |
probably damaging |
Het |
Vmn2r71 |
A |
C |
7: 85,272,866 (GRCm39) |
D560A |
probably damaging |
Het |
Wdr91 |
A |
G |
6: 34,882,522 (GRCm39) |
L209P |
probably damaging |
Het |
Zfp511 |
T |
A |
7: 139,616,504 (GRCm39) |
D46E |
probably benign |
Het |
Zfp81 |
C |
T |
17: 33,553,537 (GRCm39) |
A426T |
possibly damaging |
Het |
Zscan22 |
T |
C |
7: 12,641,217 (GRCm39) |
I328T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGTCTAATGAGTACCCCTCC -3'
(R):5'- GCTCCATTTAGATGCTAGCTGG -3'
Sequencing Primer
(F):5'- AGTCTAATGAGTACCCCTCCTCTTTG -3'
(R):5'- CCATTTAGATGCTAGCTGGATGGTAG -3'
|
Posted On |
2015-02-05 |