Incidental Mutation 'R9128:Usp5'
| ID |
693396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp5
|
| Ensembl Gene |
ENSMUSG00000038429 |
| Gene Name |
ubiquitin specific peptidase 5 (isopeptidase T) |
| Synonyms |
Ucht |
| MMRRC Submission |
068927-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9128 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124791982-124806404 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 124800414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047510]
[ENSMUST00000122110]
[ENSMUST00000142058]
[ENSMUST00000153306]
|
| AlphaFold |
P56399 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047510
|
| SMART Domains |
Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
| 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
|
| SMART Domains |
Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
| 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: ENSMUST00000142058
|
| SMART Domains |
Protein: ENSMUSP00000117439
Gene: ENSMUSG00000038429
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,838,352 (GRCm39) |
V542A |
possibly damaging |
Het |
| Abhd8 |
G |
T |
8: 71,914,389 (GRCm39) |
R80S |
probably benign |
Het |
| Actc1 |
T |
C |
2: 113,880,946 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Actn4 |
G |
T |
7: 28,593,929 (GRCm39) |
D859E |
possibly damaging |
Het |
| Adcy2 |
C |
T |
13: 68,773,927 (GRCm39) |
G1039R |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,219,709 (GRCm39) |
M1202T |
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,273,908 (GRCm39) |
Y49* |
probably null |
Het |
| Atp8b4 |
T |
C |
2: 126,234,750 (GRCm39) |
D422G |
probably benign |
Het |
| Bag6 |
T |
A |
17: 35,363,688 (GRCm39) |
S791T |
probably damaging |
Het |
| Bivm |
T |
A |
1: 44,167,949 (GRCm39) |
W222R |
probably null |
Het |
| Bod1l |
A |
C |
5: 41,946,266 (GRCm39) |
V3003G |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,993,349 (GRCm39) |
D801G |
probably benign |
Het |
| Ccdc14 |
G |
A |
16: 34,527,159 (GRCm39) |
D403N |
probably damaging |
Het |
| Cenpj |
T |
A |
14: 56,780,319 (GRCm39) |
E964V |
probably damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Clca3a1 |
G |
A |
3: 144,463,795 (GRCm39) |
R161W |
probably damaging |
Het |
| Dcxr |
A |
T |
11: 120,617,372 (GRCm39) |
V57E |
|
Het |
| Dnah17 |
T |
G |
11: 117,937,004 (GRCm39) |
N3400T |
possibly damaging |
Het |
| Dnaja3 |
C |
T |
16: 4,520,164 (GRCm39) |
T444I |
possibly damaging |
Het |
| Dop1a |
T |
C |
9: 86,395,208 (GRCm39) |
S772P |
probably benign |
Het |
| Ednrb |
T |
C |
14: 104,080,528 (GRCm39) |
N129D |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,533,946 (GRCm39) |
M2001K |
unknown |
Het |
| Fam3b |
A |
G |
16: 97,302,200 (GRCm39) |
I8T |
probably benign |
Het |
| Fam98c |
A |
T |
7: 28,854,115 (GRCm39) |
S85T |
|
Het |
| Fat1 |
G |
A |
8: 45,462,878 (GRCm39) |
V1232I |
probably benign |
Het |
| Fzd3 |
T |
A |
14: 65,449,626 (GRCm39) |
Y484F |
probably damaging |
Het |
| H3f3a |
T |
C |
1: 180,630,660 (GRCm39) |
I131M |
possibly damaging |
Het |
| Ifi206 |
A |
T |
1: 173,299,022 (GRCm39) |
D861E |
unknown |
Het |
| Ihh |
T |
C |
1: 74,985,498 (GRCm39) |
Y329C |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,278,462 (GRCm39) |
N909D |
probably damaging |
Het |
| Krtap12-1 |
C |
A |
10: 77,556,623 (GRCm39) |
C55* |
probably null |
Het |
| Mical2 |
A |
C |
7: 111,870,589 (GRCm39) |
K26T |
possibly damaging |
Het |
| Mreg |
T |
C |
1: 72,231,216 (GRCm39) |
T81A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,558,878 (GRCm39) |
T2472A |
unknown |
Het |
| Nanos3 |
A |
T |
8: 84,903,080 (GRCm39) |
D27E |
probably benign |
Het |
| Nox3 |
T |
G |
17: 3,720,136 (GRCm39) |
S350R |
probably damaging |
Het |
| Or4m1 |
A |
G |
14: 50,558,214 (GRCm39) |
V26A |
probably benign |
Het |
| Or8k18 |
T |
A |
2: 86,086,022 (GRCm39) |
N5I |
probably damaging |
Het |
| Pafah2 |
C |
T |
4: 134,147,281 (GRCm39) |
T310M |
probably damaging |
Het |
| Pals1 |
A |
G |
12: 78,843,832 (GRCm39) |
E12G |
probably benign |
Het |
| Pianp |
A |
G |
6: 124,977,658 (GRCm39) |
I185V |
probably benign |
Het |
| Pja2 |
T |
C |
17: 64,616,470 (GRCm39) |
T142A |
probably benign |
Het |
| Poln |
G |
A |
5: 34,171,658 (GRCm39) |
P747L |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,520,178 (GRCm39) |
S141T |
probably benign |
Het |
| Rdx |
T |
A |
9: 51,976,179 (GRCm39) |
L39* |
probably null |
Het |
| Rnf146 |
A |
G |
10: 29,223,539 (GRCm39) |
W116R |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sec24d |
A |
G |
3: 123,087,810 (GRCm39) |
T224A |
probably benign |
Het |
| Serpinb9 |
T |
A |
13: 33,190,686 (GRCm39) |
I54K |
possibly damaging |
Het |
| Slc25a13 |
A |
T |
6: 6,109,987 (GRCm39) |
L324Q |
probably null |
Het |
| Slc9c1 |
T |
C |
16: 45,400,490 (GRCm39) |
L700P |
probably benign |
Het |
| Snta1 |
T |
C |
2: 154,222,856 (GRCm39) |
K289R |
probably benign |
Het |
| Sppl2a |
A |
G |
2: 126,765,393 (GRCm39) |
F243S |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,058,556 (GRCm39) |
E7319G |
probably benign |
Het |
| Taf5l |
G |
A |
8: 124,730,014 (GRCm39) |
P225L |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,175,374 (GRCm39) |
N1324K |
possibly damaging |
Het |
| Vmn2r124 |
G |
T |
17: 18,294,439 (GRCm39) |
R842L |
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,266,319 (GRCm39) |
D2G |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,619,693 (GRCm39) |
L1457P |
|
Het |
| Xpo1 |
A |
G |
11: 23,235,058 (GRCm39) |
T576A |
probably damaging |
Het |
| Zdhhc6 |
A |
T |
19: 55,301,680 (GRCm39) |
Y100* |
probably null |
Het |
| Zfp534 |
T |
A |
4: 147,760,082 (GRCm39) |
R196* |
probably null |
Het |
| Zfp710 |
C |
T |
7: 79,731,122 (GRCm39) |
R100W |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,404,674 (GRCm39) |
K67R |
probably benign |
Het |
| Zmynd10 |
T |
C |
9: 107,426,326 (GRCm39) |
S158P |
|
Het |
| Zmynd8 |
A |
T |
2: 165,700,058 (GRCm39) |
M1K |
probably null |
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 |
|
|
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 |
|
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'- GTGATTGGCACGTAATATCTGG -3'
(R):5'- TTTGTGCCTCACTAATGTTCAAGTG -3'
Sequencing Primer
(F):5'- GGCACGTAATATCTGGTAGTATTTAC -3'
(R):5'- TCACTAATGTTCAAGTGAGCCAGG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation