Mutagenetix > Incidental Mutation

Incidental Mutation 'R8679:Usp5'

661584

Institutional Source

Beutler Lab

Gene Symbol

Usp5

Ensembl Gene

ENSMUSG00000038429

Gene Name

ubiquitin specific peptidase 5 (isopeptidase T)

Synonyms

Ucht

MMRRC Submission

068534-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8679 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124791982-124806404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124794394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 762 (H762R)

Ref Sequence

ENSEMBL: ENSMUSP00000041299 (fasta)

Gene Model

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

AlphaFold

P56399

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047510
AA Change: H762R

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
AA Change: H762R

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: H739R

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
AA Change: H739R

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: ENSMUST00000149610

SMART Domains

Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456

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

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

Meta Mutation Damage Score

0.4450

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

98% (91/93)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,152,479 (GRCm39)	T1356A	possibly damaging	Het
Ace3	A	G	11: 105,886,701 (GRCm39)	T154A	probably benign	Het
Arhgap31	C	A	16: 38,422,966 (GRCm39)	Q1033H	probably damaging	Het
C1qtnf1	C	T	11: 118,337,340 (GRCm39)	R57*	probably null	Het
Cacna1g	T	C	11: 94,319,962 (GRCm39)	T1405A	probably damaging	Het
Cacna1i	A	G	15: 80,260,011 (GRCm39)		probably benign	Het
Cdca4	T	A	12: 112,785,734 (GRCm39)		probably null	Het
Cpa4	T	A	6: 30,585,158 (GRCm39)	M314K	probably damaging	Het
Cpn2	A	T	16: 30,078,085 (GRCm39)	S539T	possibly damaging	Het
Crebbp	A	G	16: 3,902,322 (GRCm39)	S2306P	probably damaging	Het
Cspg4b	A	G	13: 113,488,163 (GRCm39)	R9G		Het
Dcaf5	T	C	12: 80,385,807 (GRCm39)	H773R	probably benign	Het
Dcun1d2	A	T	8: 13,311,406 (GRCm39)	D194E	probably benign	Het
Dnah1	G	T	14: 30,989,767 (GRCm39)	R3250S	possibly damaging	Het
Dnajc25	A	C	4: 59,020,195 (GRCm39)	K206T	possibly damaging	Het
Dnajc27	T	C	12: 4,146,325 (GRCm39)	L118P	possibly damaging	Het
Etl4	C	T	2: 20,714,288 (GRCm39)	T129I	probably damaging	Het
Faap100	A	G	11: 120,263,003 (GRCm39)	I785T	probably damaging	Het
Fam227b	A	T	2: 125,830,928 (GRCm39)	D425E	probably benign	Het
Fat4	C	G	3: 39,064,842 (GRCm39)	L4933V	probably damaging	Het
Fbrsl1	A	G	5: 110,526,086 (GRCm39)	F39L	probably damaging	Het
Fezf1	A	G	6: 23,247,769 (GRCm39)	V102A	probably benign	Het
Gabra2	T	C	5: 71,170,040 (GRCm39)		probably benign	Het
Garnl3	C	A	2: 32,916,106 (GRCm39)	R346L	probably damaging	Het
Grin2a	A	T	16: 9,403,089 (GRCm39)	I799N	possibly damaging	Het
Hspa4	A	G	11: 53,160,691 (GRCm39)	F462L	probably damaging	Het
Iars1	C	A	13: 49,856,675 (GRCm39)		probably benign	Het
Igkv6-32	C	T	6: 70,051,063 (GRCm39)	V98M	possibly damaging	Het
Il31ra	A	G	13: 112,662,372 (GRCm39)	F560S	possibly damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kif2a	G	A	13: 107,116,049 (GRCm39)	T299I	probably damaging	Het
Leo1	T	A	9: 75,373,544 (GRCm39)	Y656*	probably null	Het
Lpcat2	T	A	8: 93,635,864 (GRCm39)	V422D	probably damaging	Het
Lrrcc1	T	A	3: 14,601,084 (GRCm39)	S39T	probably benign	Het
Macf1	A	T	4: 123,405,869 (GRCm39)	S341T	probably benign	Het
Mc2r	T	A	18: 68,540,879 (GRCm39)	Y138F	probably damaging	Het
Mepe	A	G	5: 104,485,754 (GRCm39)	N298S	possibly damaging	Het
Mmp15	C	A	8: 96,092,982 (GRCm39)	N120K	possibly damaging	Het
Mrps9	A	G	1: 42,918,915 (GRCm39)	R106G	probably damaging	Het
Muc16	T	A	9: 18,557,744 (GRCm39)	M2850L	unknown	Het
Mxra8	T	A	4: 155,927,122 (GRCm39)	I352N	probably damaging	Het
Myo16	G	A	8: 10,411,042 (GRCm39)	V167I	unknown	Het
Neb	T	C	2: 52,215,051 (GRCm39)	D209G	probably damaging	Het
Nlgn2	A	G	11: 69,716,309 (GRCm39)	V744A	probably benign	Het
Notch2	A	G	3: 98,029,218 (GRCm39)		probably null	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Or14c42-ps1	A	T	7: 86,211,147 (GRCm39)	H69L	unknown	Het
Or5ak20	T	C	2: 85,183,953 (GRCm39)	T106A	probably benign	Het
Or5k16	G	A	16: 58,736,843 (GRCm39)	R54C	probably benign	Het
Or9k2b	T	C	10: 130,016,702 (GRCm39)	I16V	probably benign	Het
Oxa1l	A	G	14: 54,605,248 (GRCm39)		probably null	Het
Piwil4	T	C	9: 14,616,322 (GRCm39)	D15G		Het
Plcz1	C	A	6: 139,949,612 (GRCm39)	W461L	probably damaging	Het
Plek	A	T	11: 16,944,676 (GRCm39)	I118N	probably damaging	Het
Poc1b	C	A	10: 99,000,728 (GRCm39)		probably benign	Het
Potefam1	A	T	2: 111,059,567 (GRCm39)	M64K	possibly damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Prss36	T	C	7: 127,532,635 (GRCm39)	T739A	possibly damaging	Het
Psme2	A	T	14: 55,827,074 (GRCm39)		probably null	Het
Ptprb	T	G	10: 116,203,495 (GRCm39)	V1802G	probably damaging	Het
Rabep2	C	A	7: 126,034,848 (GRCm39)	Y84*	probably null	Het
Rbbp6	T	G	7: 122,600,516 (GRCm39)	S1508A	unknown	Het
Rel	A	T	11: 23,692,430 (GRCm39)	D534E	probably benign	Het
Rpgrip1	G	A	14: 52,396,852 (GRCm39)	S1258N	probably damaging	Het
Rprml	T	C	11: 103,540,953 (GRCm39)	L116P	probably damaging	Het
Rsph10b	A	G	5: 143,887,112 (GRCm39)	T323A	possibly damaging	Het
Rtn4rl1	A	G	11: 75,156,099 (GRCm39)	H177R	probably damaging	Het
Sag	A	G	1: 87,738,032 (GRCm39)	T24A	probably benign	Het
Scgb2b26	G	T	7: 33,643,784 (GRCm39)	T52N	probably damaging	Het
Scn10a	T	C	9: 119,501,194 (GRCm39)	I197V	probably damaging	Het
Sec24c	T	A	14: 20,742,927 (GRCm39)	V1003D	possibly damaging	Het
Sirt2	G	A	7: 28,471,261 (GRCm39)	G30E	probably damaging	Het
Slc13a5	T	A	11: 72,149,919 (GRCm39)	Q197L	probably benign	Het
Slc44a3	A	T	3: 121,283,918 (GRCm39)	S445T	probably damaging	Het
Slc7a7	A	T	14: 54,610,449 (GRCm39)	V399E	probably benign	Het
Smarcad1	T	A	6: 65,088,865 (GRCm39)	D1000E	probably benign	Het
Sorcs2	G	T	5: 36,196,657 (GRCm39)	Q663K	probably benign	Het
Stat4	A	G	1: 52,118,991 (GRCm39)	R345G	probably null	Het
Sycp2	G	A	2: 177,992,768 (GRCm39)	R1261C	probably damaging	Het
Tcf19	T	C	17: 35,825,381 (GRCm39)	I259V	probably benign	Het
Thada	T	A	17: 84,536,637 (GRCm39)	R1636S	probably benign	Het
Tnrc6c	T	C	11: 117,604,961 (GRCm39)	L32P	probably benign	Het
Tonsl	G	A	15: 76,517,076 (GRCm39)	T881I	probably benign	Het
Tonsl	A	C	15: 76,518,263 (GRCm39)	C570G	probably damaging	Het
Ube2o	C	A	11: 116,432,273 (GRCm39)	E898*	probably null	Het
Vmn2r15	A	G	5: 109,434,779 (GRCm39)	S642P	probably benign	Het
Vmn2r23	T	C	6: 123,690,431 (GRCm39)	W436R	probably damaging	Het
Vps13d	A	C	4: 144,811,977 (GRCm39)	I3343M		Het
Wbp11	T	C	6: 136,799,932 (GRCm39)	K83E	probably damaging	Het
Zfp26	T	A	9: 20,356,201 (GRCm39)	N36Y	possibly damaging	Het
Zfp57	T	A	17: 37,320,938 (GRCm39)	I264N	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
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
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'- AGCGTTTCAGGGAACATGGG -3'
(R):5'- CCTTTGGTTAGTGGTACCAAAAC -3'

Sequencing Primer
(F):5'- TTCTGGCCCCTCAGAGTGAG -3'
(R):5'- TGGTTAGTGGTACCAAAACCCAGTAC -3'

Posted On

2021-03-08