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

124791982-124806404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124794919 bp (GRCm39)

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] [ENSMUST00000172132] [ENSMUST00000149610]

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

noncoding transcript
Transcript: ENSMUST00000204602

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

probably benign
Transcript: ENSMUST00000149610

SMART Domains

Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456

Domain	Start	End	E-Value	Type
Pfam:TIM	1	163	1.1e-65	PFAM

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: 47,083,872 (GRCm39)	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,313,791 (GRCm39)	I629T	unknown	Het
4933402N03Rik	T	C	7: 130,740,413 (GRCm39)	R268G	probably damaging	Het
Abca13	A	T	11: 9,384,193 (GRCm39)	R3882*	probably null	Het
Adamts3	T	G	5: 89,850,866 (GRCm39)	T558P	probably damaging	Het
Ano2	A	G	6: 125,767,304 (GRCm39)	N214S	probably benign	Het
Arhgef4	A	T	1: 34,850,866 (GRCm39)		probably null	Het
Boc	C	T	16: 44,320,743 (GRCm39)	A306T	probably benign	Het
Capn10	T	C	1: 92,871,503 (GRCm39)	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,025,086 (GRCm39)		probably benign	Het
Cobll1	G	T	2: 64,929,372 (GRCm39)	S688R	possibly damaging	Het
Cpxm2	G	T	7: 131,650,767 (GRCm39)	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,687,779 (GRCm39)	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,312,200 (GRCm39)	Y118N	probably damaging	Het
Dgki	A	T	6: 37,276,781 (GRCm39)		probably benign	Het
Disp2	A	G	2: 118,623,237 (GRCm39)	N1323S	probably damaging	Het
Dock1	T	A	7: 134,326,138 (GRCm39)	Y42*	probably null	Het
Eps8l1	C	A	7: 4,476,944 (GRCm39)	P471Q	probably damaging	Het
Fam20a	A	C	11: 109,612,513 (GRCm39)	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,242,446 (GRCm39)	I151K	probably damaging	Het
Gga1	C	A	15: 78,769,509 (GRCm39)	P161T	probably damaging	Het
Gm9923	T	A	10: 72,145,306 (GRCm39)	Y52*	probably null	Het
Gucy2g	A	G	19: 55,194,688 (GRCm39)	F910L	probably damaging	Het
H2-T5	A	T	17: 36,476,750 (GRCm39)	H241Q	possibly damaging	Het
Helz	T	C	11: 107,539,971 (GRCm39)	V315A	probably damaging	Het
Hk2	T	C	6: 82,716,629 (GRCm39)	Y301C	probably damaging	Het
Htt	C	T	5: 35,010,109 (GRCm39)	P1521S	probably damaging	Het
Iah1	T	C	12: 21,366,434 (GRCm39)	M1T	probably null	Het
Ik	T	C	18: 36,885,467 (GRCm39)	S287P	probably damaging	Het
Itga1	T	A	13: 115,185,906 (GRCm39)	D32V	probably damaging	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
Klk14	A	G	7: 43,341,392 (GRCm39)	I15V	probably benign	Het
Kng2	T	C	16: 22,806,391 (GRCm39)	I603V	possibly damaging	Het
Lama1	T	C	17: 68,080,773 (GRCm39)	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,812,316 (GRCm39)	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,504,243 (GRCm39)	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,304,678 (GRCm39)	N233K	probably benign	Het
Mapk13	T	C	17: 28,989,023 (GRCm39)	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430 (GRCm39)	F123L	probably damaging	Het
Myh4	G	C	11: 67,136,637 (GRCm39)	D472H	probably damaging	Het
Nipa2	A	T	7: 55,585,574 (GRCm39)	N121K	probably benign	Het
Nostrin	C	T	2: 69,014,268 (GRCm39)	T408M	probably benign	Het
Oosp2	C	T	19: 11,627,017 (GRCm39)	R102H	probably damaging	Het
Or1j18	A	G	2: 36,624,686 (GRCm39)	M118V	probably damaging	Het
Or4k15b	T	C	14: 50,272,287 (GRCm39)	D191G	probably damaging	Het
Osgin2	T	A	4: 16,001,946 (GRCm39)	I202L	probably benign	Het
Pbld2	C	A	10: 62,893,476 (GRCm39)	R271S	probably damaging	Het
Pex6	C	T	17: 47,023,027 (GRCm39)	T201I	probably benign	Het
Pilra	T	C	5: 137,833,777 (GRCm39)	I96M	probably damaging	Het
Pllp	T	A	8: 95,403,906 (GRCm39)	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,444,902 (GRCm39)	S765G	probably benign	Het
Prkca	A	T	11: 107,852,434 (GRCm39)	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,641,579 (GRCm39)	K35*	probably null	Het
Psmc2	A	G	5: 22,008,263 (GRCm39)	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,331,951 (GRCm39)	T2387A	probably damaging	Het
Ros1	T	C	10: 52,005,192 (GRCm39)	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,468,581 (GRCm39)	T367K	probably benign	Het
Scube2	C	T	7: 109,409,920 (GRCm39)	R525H	probably damaging	Het
Sec14l4	T	C	11: 3,985,200 (GRCm39)		probably null	Het
Secisbp2l	T	C	2: 125,587,862 (GRCm39)	D751G	probably damaging	Het
Setd3	T	C	12: 108,074,949 (GRCm39)	D402G	probably benign	Het
Slc15a2	T	A	16: 36,578,211 (GRCm39)	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,243,721 (GRCm39)	S2P	probably benign	Het
Slfn8	A	T	11: 82,908,332 (GRCm39)	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,576 (GRCm39)	I944V	probably benign	Het
Spg11	A	G	2: 121,895,557 (GRCm39)	F1887S	probably damaging	Het
Sptbn4	A	T	7: 27,066,160 (GRCm39)	D649E	possibly damaging	Het
Sptbn4	T	C	7: 27,063,844 (GRCm39)	E879G	probably damaging	Het
Stx5a	C	A	19: 8,720,725 (GRCm39)	R121S	probably damaging	Het
Tbcd	T	C	11: 121,384,597 (GRCm39)	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,144,255 (GRCm39)	D649G	probably benign	Het
Tfam	A	G	10: 71,073,677 (GRCm39)	S32P	probably benign	Het
Tmt1b	G	T	10: 128,796,571 (GRCm39)	C79*	probably null	Het
Trmt44	C	T	5: 35,715,387 (GRCm39)	R642H	probably benign	Het
Trpm3	G	A	19: 22,965,145 (GRCm39)	A1547T	probably benign	Het
Ttll6	T	C	11: 96,044,003 (GRCm39)	V519A	probably benign	Het
Umodl1	T	C	17: 31,217,088 (GRCm39)	F1107L	probably benign	Het
Utp20	A	T	10: 88,643,307 (GRCm39)	L605*	probably null	Het
Utrn	T	C	10: 12,620,984 (GRCm39)	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502 (GRCm39)	L178*	probably null	Het
Vmn2r88	A	T	14: 51,650,791 (GRCm39)	D168V	possibly damaging	Het
Vps13b	T	C	15: 35,646,324 (GRCm39)	V1476A	probably damaging	Het
Vps13b	C	A	15: 35,879,967 (GRCm39)	T3014K	probably benign	Het
Vps13b	C	T	15: 35,841,487 (GRCm39)	H2506Y	probably benign	Het
Vps37c	T	C	19: 10,690,132 (GRCm39)	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,259,290 (GRCm39)	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,738,607 (GRCm39)	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078 (GRCm39)	T1994A	probably benign	Het
Zfp791	A	G	8: 85,837,559 (GRCm39)	Y102H	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
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'- CCATGGAGACTATGGTGGTC -3'
(R):5'- AAGCACTTATGGGTGATGGG -3'

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

Posted On

2015-10-21