Mutagenetix > Incidental Mutation

Incidental Mutation 'R4684:Usp5'

353512

Institutional Source

Beutler Lab

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) question?

Stock #

R4684 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124815019-124829484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124817956 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 677 (V677E)

Ref Sequence

ENSEMBL: ENSMUSP00000041299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047510] [ENSMUST00000122110] [ENSMUST00000142058] [ENSMUST00000149610] [ENSMUST00000172132]

AlphaFold

P56399

Predicted Effect

probably damaging
Transcript: ENSMUST00000047510
AA Change: V677E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
AA Change: V677E

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 damaging
Transcript: ENSMUST00000122110
AA Change: V654E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
AA Change: V654E

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

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

noncoding transcript
Transcript: ENSMUST00000146098

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154883

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

noncoding transcript
Transcript: ENSMUST00000204602

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 46,772,946 (GRCm38)	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,471,871 (GRCm38)	I629T	unknown	Het
4933402N03Rik	T	C	7: 131,138,684 (GRCm38)	R268G	probably damaging	Het
Abca13	A	T	11: 9,434,193 (GRCm38)	R3882*	probably null	Het
Adamts3	T	G	5: 89,703,007 (GRCm38)	T558P	probably damaging	Het
Ano2	A	G	6: 125,790,341 (GRCm38)	N214S	probably benign	Het
Arhgef4	A	T	1: 34,811,785 (GRCm38)		probably null	Het
Boc	C	T	16: 44,500,380 (GRCm38)	A306T	probably benign	Het
Capn10	T	C	1: 92,943,781 (GRCm38)	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,189,256 (GRCm38)		probably benign	Het
Cobll1	G	T	2: 65,099,028 (GRCm38)	S688R	possibly damaging	Het
Cpxm2	G	T	7: 132,049,038 (GRCm38)	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,699,335 (GRCm38)	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,455,003 (GRCm38)	Y118N	probably damaging	Het
Dgki	A	T	6: 37,299,846 (GRCm38)		probably benign	Het
Disp2	A	G	2: 118,792,756 (GRCm38)	N1323S	probably damaging	Het
Dock1	T	A	7: 134,724,409 (GRCm38)	Y42*	probably null	Het
Eps8l1	C	A	7: 4,473,945 (GRCm38)	P471Q	probably damaging	Het
Fam20a	A	C	11: 109,721,687 (GRCm38)	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,022,184 (GRCm38)	I151K	probably damaging	Het
Gga1	C	A	15: 78,885,309 (GRCm38)	P161T	probably damaging	Het
Gm8909	A	T	17: 36,165,858 (GRCm38)	H241Q	possibly damaging	Het
Gm9923	T	A	10: 72,309,476 (GRCm38)	Y52*	probably null	Het
Gucy2g	A	G	19: 55,206,256 (GRCm38)	F910L	probably damaging	Het
Helz	T	C	11: 107,649,145 (GRCm38)	V315A	probably damaging	Het
Hk2	T	C	6: 82,739,648 (GRCm38)	Y301C	probably damaging	Het
Htt	C	T	5: 34,852,765 (GRCm38)	P1521S	probably damaging	Het
Iah1	T	C	12: 21,316,433 (GRCm38)	M1T	probably null	Het
Ik	T	C	18: 36,752,414 (GRCm38)	S287P	probably damaging	Het
Itga1	T	A	13: 115,049,370 (GRCm38)	D32V	probably damaging	Het
Itpr2	A	G	6: 146,373,173 (GRCm38)	F837S	probably damaging	Het
Klk14	A	G	7: 43,691,968 (GRCm38)	I15V	probably benign	Het
Kng2	T	C	16: 22,987,641 (GRCm38)	I603V	possibly damaging	Het
Lama1	T	C	17: 67,773,778 (GRCm38)	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,922,304 (GRCm38)	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,454,244 (GRCm38)	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,468,816 (GRCm38)	N233K	probably benign	Het
Mapk13	T	C	17: 28,770,049 (GRCm38)	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430 (GRCm38)	F123L	probably damaging	Het
Myh4	G	C	11: 67,245,811 (GRCm38)	D472H	probably damaging	Het
Nipa2	A	T	7: 55,935,826 (GRCm38)	N121K	probably benign	Het
Nostrin	C	T	2: 69,183,924 (GRCm38)	T408M	probably benign	Het
Oosp2	C	T	19: 11,649,653 (GRCm38)	R102H	probably damaging	Het
Or1j18	A	G	2: 36,734,674 (GRCm38)	M118V	probably damaging	Het
Or4k15b	T	C	14: 50,034,830 (GRCm38)	D191G	probably damaging	Het
Osgin2	T	A	4: 16,001,946 (GRCm38)	I202L	probably benign	Het
Pbld2	C	A	10: 63,057,697 (GRCm38)	R271S	probably damaging	Het
Pex6	C	T	17: 46,712,101 (GRCm38)	T201I	probably benign	Het
Pilra	T	C	5: 137,835,515 (GRCm38)	I96M	probably damaging	Het
Pllp	T	A	8: 94,677,278 (GRCm38)	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,762,594 (GRCm38)	S765G	probably benign	Het
Prkca	A	T	11: 107,961,608 (GRCm38)	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,664,179 (GRCm38)	K35*	probably null	Het
Psmc2	A	G	5: 21,803,265 (GRCm38)	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,441,125 (GRCm38)	T2387A	probably damaging	Het
Ros1	T	C	10: 52,129,096 (GRCm38)	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,491,599 (GRCm38)	T367K	probably benign	Het
Scube2	C	T	7: 109,810,713 (GRCm38)	R525H	probably damaging	Het
Sec14l4	T	C	11: 4,035,200 (GRCm38)		probably null	Het
Secisbp2l	T	C	2: 125,745,942 (GRCm38)	D751G	probably damaging	Het
Setd3	T	C	12: 108,108,690 (GRCm38)	D402G	probably benign	Het
Slc15a2	T	A	16: 36,757,849 (GRCm38)	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,196,936 (GRCm38)	S2P	probably benign	Het
Slfn8	A	T	11: 83,017,506 (GRCm38)	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,490 (GRCm38)	I944V	probably benign	Het
Spg11	A	G	2: 122,065,076 (GRCm38)	F1887S	probably damaging	Het
Sptbn4	A	T	7: 27,366,735 (GRCm38)	D649E	possibly damaging	Het
Sptbn4	T	C	7: 27,364,419 (GRCm38)	E879G	probably damaging	Het
Stx5a	C	A	19: 8,743,361 (GRCm38)	R121S	probably damaging	Het
Tbcd	T	C	11: 121,493,771 (GRCm38)	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,207,437 (GRCm38)	D649G	probably benign	Het
Tfam	A	G	10: 71,237,847 (GRCm38)	S32P	probably benign	Het
Tmt1b	G	T	10: 128,960,702 (GRCm38)	C79*	probably null	Het
Trmt44	C	T	5: 35,558,043 (GRCm38)	R642H	probably benign	Het
Trpm3	G	A	19: 22,987,781 (GRCm38)	A1547T	probably benign	Het
Ttll6	T	C	11: 96,153,177 (GRCm38)	V519A	probably benign	Het
Umodl1	T	C	17: 30,998,114 (GRCm38)	F1107L	probably benign	Het
Utp20	A	T	10: 88,807,445 (GRCm38)	L605*	probably null	Het
Utrn	T	C	10: 12,745,240 (GRCm38)	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502 (GRCm38)	L178*	probably null	Het
Vmn2r88	A	T	14: 51,413,334 (GRCm38)	D168V	possibly damaging	Het
Vps13b	C	A	15: 35,879,821 (GRCm38)	T3014K	probably benign	Het
Vps13b	C	T	15: 35,841,341 (GRCm38)	H2506Y	probably benign	Het
Vps13b	T	C	15: 35,646,178 (GRCm38)	V1476A	probably damaging	Het
Vps37c	T	C	19: 10,712,768 (GRCm38)	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,423,385 (GRCm38)	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,854,407 (GRCm38)	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078 (GRCm38)	T1994A	probably benign	Het
Zfp791	A	G	8: 85,110,930 (GRCm38)	Y102H	probably benign	Het

Other mutations in Usp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Usp5	APN	6	124,829,353 (GRCm38)	missense	probably benign	0.00
IGL00905:Usp5	APN	6	124,815,613 (GRCm38)	missense	probably damaging	1.00
IGL01584:Usp5	APN	6	124,819,387 (GRCm38)	missense	probably damaging	1.00
IGL01642:Usp5	APN	6	124,820,453 (GRCm38)	missense	probably damaging	0.99
IGL01787:Usp5	APN	6	124,824,226 (GRCm38)	missense	possibly damaging	0.95
IGL02394:Usp5	APN	6	124,822,709 (GRCm38)	missense	probably damaging	1.00
IGL02677:Usp5	APN	6	124,819,426 (GRCm38)	missense	probably damaging	1.00
IGL03392:Usp5	APN	6	124,826,387 (GRCm38)	missense	probably damaging	1.00
BB004:Usp5	UTSW	6	124,824,229 (GRCm38)	missense	probably benign	0.06
BB014:Usp5	UTSW	6	124,824,229 (GRCm38)	missense	probably benign	0.06
R0594:Usp5	UTSW	6	124,817,424 (GRCm38)	missense	probably damaging	0.99
R1522:Usp5	UTSW	6	124,825,166 (GRCm38)	missense	probably benign
R1719:Usp5	UTSW	6	124,823,460 (GRCm38)	missense	possibly damaging	0.94
R2185:Usp5	UTSW	6	124,817,410 (GRCm38)	missense	probably damaging	0.99
R3115:Usp5	UTSW	6	124,815,597 (GRCm38)	missense	probably damaging	1.00
R4196:Usp5	UTSW	6	124,824,938 (GRCm38)	missense	possibly damaging	0.78
R4347:Usp5	UTSW	6	124,821,195 (GRCm38)	missense	probably damaging	1.00
R4386:Usp5	UTSW	6	124,818,474 (GRCm38)	critical splice donor site	probably null
R4500:Usp5	UTSW	6	124,822,630 (GRCm38)	missense	possibly damaging	0.71
R4501:Usp5	UTSW	6	124,822,630 (GRCm38)	missense	possibly damaging	0.71
R4526:Usp5	UTSW	6	124,822,630 (GRCm38)	missense	possibly damaging	0.71
R4527:Usp5	UTSW	6	124,822,630 (GRCm38)	missense	possibly damaging	0.71
R4528:Usp5	UTSW	6	124,822,630 (GRCm38)	missense	possibly damaging	0.71
R4912:Usp5	UTSW	6	124,822,630 (GRCm38)	missense	possibly damaging	0.71
R4913:Usp5	UTSW	6	124,822,630 (GRCm38)	missense	possibly damaging	0.71
R4954:Usp5	UTSW	6	124,822,630 (GRCm38)	missense	possibly damaging	0.71
R4956:Usp5	UTSW	6	124,822,630 (GRCm38)	missense	possibly damaging	0.71
R4957:Usp5	UTSW	6	124,822,630 (GRCm38)	missense	possibly damaging	0.71
R4958:Usp5	UTSW	6	124,822,630 (GRCm38)	missense	possibly damaging	0.71
R5071:Usp5	UTSW	6	124,826,379 (GRCm38)	missense	probably benign	0.13
R6020:Usp5	UTSW	6	124,817,613 (GRCm38)	unclassified	probably benign
R6236:Usp5	UTSW	6	124,818,478 (GRCm38)	missense	probably benign	0.05
R6370:Usp5	UTSW	6	124,820,428 (GRCm38)	missense	probably benign	0.01
R7090:Usp5	UTSW	6	124,829,394 (GRCm38)	start codon destroyed	probably null
R7317:Usp5	UTSW	6	124,826,318 (GRCm38)	missense	probably damaging	0.98
R7447:Usp5	UTSW	6	124,821,114 (GRCm38)	missense	probably damaging	1.00
R7572:Usp5	UTSW	6	124,818,007 (GRCm38)	missense	probably damaging	0.99
R7598:Usp5	UTSW	6	124,826,379 (GRCm38)	missense	possibly damaging	0.73
R7927:Usp5	UTSW	6	124,824,229 (GRCm38)	missense	probably benign	0.06
R7931:Usp5	UTSW	6	124,824,446 (GRCm38)	intron	probably benign
R8089:Usp5	UTSW	6	124,820,410 (GRCm38)	critical splice donor site	probably null
R8361:Usp5	UTSW	6	124,824,985 (GRCm38)	missense	probably damaging	1.00
R8544:Usp5	UTSW	6	124,823,517 (GRCm38)	missense	probably damaging	1.00
R8679:Usp5	UTSW	6	124,817,431 (GRCm38)	missense	possibly damaging	0.94
R9115:Usp5	UTSW	6	124,826,421 (GRCm38)	missense	probably damaging	0.97
R9128:Usp5	UTSW	6	124,823,451 (GRCm38)	critical splice donor site	probably null
R9227:Usp5	UTSW	6	124,818,636 (GRCm38)	missense	probably damaging	1.00
R9651:Usp5	UTSW	6	124,822,538 (GRCm38)	missense	possibly damaging	0.91
X0058:Usp5	UTSW	6	124,824,176 (GRCm38)	missense	probably damaging	1.00
Z1177:Usp5	UTSW	6	124,825,148 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCATGGAGACTATGGTGGTC -3'
(R):5'- AAGCACTTATGGGTGATGGG -3'

Sequencing Primer
(F):5'- TGCACTTGTGGAGCCAG -3'
(R):5'- CTTATGGGTGATGGGGAAAGGCTAG -3'

Posted On

2015-10-21