Mutagenetix > Incidental Mutation

Incidental Mutation 'R9227:Usp5'

699929

Institutional Source

Beutler Lab

Gene Symbol

Usp5

Ensembl Gene

ENSMUSG00000038429

Gene Name

ubiquitin specific peptidase 5 (isopeptidase T)

Synonyms

Ucht

MMRRC Submission

068984-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9227 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124815019-124829484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124818636 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 598 (D598G)

Ref Sequence

ENSEMBL: ENSMUSP00000041299 (fasta)

Gene Model

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

AlphaFold

P56399

Predicted Effect

probably damaging
Transcript: ENSMUST00000047510
AA Change: D598G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
AA Change: D598G

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: D598G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
AA Change: D598G

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: ENSMUST00000172132

SMART Domains

Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456

Domain	Start	End	E-Value	Type
Pfam:TIM	57	295	9.2e-86	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,321,792 (GRCm38)	F274I	probably damaging	Het
Adprhl1	C	T	8: 13,221,974 (GRCm38)	V1595I	probably benign	Het
Anxa6	A	G	11: 55,007,868 (GRCm38)	V160A	probably benign	Het
Appl1	T	C	14: 26,923,735 (GRCm38)	E706G	unknown	Het
Arhgap21	T	C	2: 20,855,658 (GRCm38)	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,947,939 (GRCm38)	Y511C	probably damaging	Het
Atp1a1	A	T	3: 101,592,434 (GRCm38)	C111S	probably damaging	Het
Atp6v0d2	T	A	4: 19,878,374 (GRCm38)	M300L	probably benign	Het
BC027072	A	G	17: 71,750,222 (GRCm38)	L820P	probably damaging	Het
C1ra	T	C	6: 124,516,780 (GRCm38)	C164R	probably damaging	Het
Cacna1h	T	C	17: 25,380,882 (GRCm38)	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,549,794 (GRCm38)	I563T	probably benign	Het
Cd180	TA	TAA	13: 102,705,006 (GRCm38)		probably null	Het
Cd55b	A	T	1: 130,422,882 (GRCm38)	L26*	probably null	Het
Cdc42bpa	A	G	1: 180,106,073 (GRCm38)	N759S	probably benign	Het
Cenpj	C	T	14: 56,564,719 (GRCm38)	E130K	possibly damaging	Het
Cep250	C	T	2: 155,970,122 (GRCm38)	A446V	unknown	Het
Chd7	C	T	4: 8,805,272 (GRCm38)	S777L	probably benign	Het
Chrm3	C	A	13: 9,878,443 (GRCm38)	V186L	probably benign	Het
Clrn2	A	G	5: 45,463,941 (GRCm38)	T226A	probably damaging	Het
Col3a1	C	T	1: 45,343,978 (GRCm38)	P1071S	unknown	Het
Dytn	A	T	1: 63,647,452 (GRCm38)	V353D	probably benign	Het
Egfem1	G	A	3: 29,357,168 (GRCm38)	E155K	probably benign	Het
Eif3m	A	T	2: 105,001,360 (GRCm38)	M285K	probably damaging	Het
Fam135b	T	C	15: 71,464,007 (GRCm38)	K446R	probably benign	Het
Fam186a	T	C	15: 99,955,503 (GRCm38)	T119A	unknown	Het
Frmd4a	T	C	2: 4,608,033 (GRCm38)	S1025P	possibly damaging	Het
Fubp3	A	G	2: 31,612,552 (GRCm38)	H449R	probably benign	Het
Fyco1	A	T	9: 123,819,146 (GRCm38)	I1241N	probably damaging	Het
Gabpb2	A	T	3: 95,204,687 (GRCm38)	M77K	probably damaging	Het
Gfpt1	T	A	6: 87,050,924 (GRCm38)	I4K	probably damaging	Het
Gif	G	A	19: 11,760,384 (GRCm38)	W386*	probably null	Het
Glis1	T	C	4: 107,568,130 (GRCm38)	S313P	probably benign	Het
Gm3376	T	G	Y: 3,774,819 (GRCm38)	D5E	probably damaging	Het
Golga4	T	A	9: 118,556,873 (GRCm38)	M1021K	possibly damaging	Het
Grid2ip	G	A	5: 143,373,439 (GRCm38)	R270Q	probably damaging	Het
Hps4	G	A	5: 112,378,039 (GRCm38)	S642N	possibly damaging	Het
Ifit1	A	G	19: 34,647,836 (GRCm38)	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,571,515 (GRCm38)	D95G	probably benign	Het
Ilkap	A	C	1: 91,387,215 (GRCm38)	I142S	probably benign	Het
Inpp5e	C	T	2: 26,398,604 (GRCm38)	R588H	probably damaging	Het
Kif1b	A	C	4: 149,237,900 (GRCm38)	M854R	probably damaging	Het
Lcn6	A	T	2: 25,680,095 (GRCm38)	K91M	probably damaging	Het
Lpin1	A	T	12: 16,538,482 (GRCm38)	S902R	unknown	Het
Lrig1	C	A	6: 94,630,132 (GRCm38)	C160F	probably damaging	Het
Mapk13	T	C	17: 28,775,558 (GRCm38)	I141T	probably damaging	Het
Mapkapk3	A	G	9: 107,260,155 (GRCm38)	L175P	probably damaging	Het
Micall2	A	G	5: 139,716,072 (GRCm38)	V472A	unknown	Het
Mmp15	T	C	8: 95,366,331 (GRCm38)	F113L	probably benign	Het
Msh2	T	G	17: 87,719,289 (GRCm38)	S738A	probably benign	Het
Myb	C	T	10: 21,154,713 (GRCm38)	D62N	probably benign	Het
Myo1f	T	C	17: 33,576,450 (GRCm38)	V53A	probably damaging	Het
Ncf1	A	T	5: 134,221,864 (GRCm38)	N367K	probably benign	Het
Nim1k	C	A	13: 119,712,582 (GRCm38)	V259F	probably damaging	Het
Nme8	T	G	13: 19,690,214 (GRCm38)	I139L	probably benign	Het
Odam	T	C	5: 87,886,598 (GRCm38)	F46L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266 (GRCm38)		probably benign	Het
Olfr8	G	A	10: 78,956,095 (GRCm38)	D297N	possibly damaging	Het
Pcdha9	A	G	18: 36,998,901 (GRCm38)	E341G	probably damaging	Het
Pmepa1	T	C	2: 173,276,169 (GRCm38)	T6A	probably benign	Het
Poglut1	A	T	16: 38,534,806 (GRCm38)	D219E	possibly damaging	Het
Racgap1	A	G	15: 99,636,197 (GRCm38)	S145P	possibly damaging	Het
Rasgef1a	C	T	6: 118,089,149 (GRCm38)	T441I	possibly damaging	Het
Rbm6	T	C	9: 107,787,299 (GRCm38)	T844A	probably benign	Het
Rell1	T	C	5: 63,939,762 (GRCm38)		probably benign	Het
Ripk3	A	G	14: 55,785,846 (GRCm38)	F134S	probably benign	Het
Rnf169	T	C	7: 99,925,492 (GRCm38)	D632G	possibly damaging	Het
Sclt1	A	T	3: 41,711,196 (GRCm38)	W146R	probably benign	Het
Setd5	T	C	6: 113,121,794 (GRCm38)	F796S	possibly damaging	Het
Slc24a5	G	T	2: 125,080,648 (GRCm38)	G110V	probably damaging	Het
Slc30a10	T	A	1: 185,455,194 (GRCm38)	M44K	probably damaging	Het
Slc38a10	T	A	11: 120,105,955 (GRCm38)	D772V	probably benign	Het
Thy1	C	T	9: 44,046,707 (GRCm38)	T44I	probably damaging	Het
Tinagl1	G	T	4: 130,167,478 (GRCm38)	S324Y	probably benign	Het
Tll2	T	A	19: 41,104,997 (GRCm38)	Y477F	probably benign	Het
Tmco1	C	T	1: 167,308,563 (GRCm38)		probably benign	Het
Tmco6	T	C	18: 36,741,666 (GRCm38)	L402P	probably damaging	Het
Tnrc18	G	T	5: 142,787,637 (GRCm38)	A479D		Het
Uba7	T	C	9: 107,975,802 (GRCm38)	V12A	possibly damaging	Het
Vmn1r158	C	T	7: 22,790,044 (GRCm38)	V247I	probably benign	Het
Vpreb2	A	G	16: 17,980,937 (GRCm38)	N96D	probably damaging	Het
Zcchc17	A	T	4: 130,337,135 (GRCm38)	M87K	probably damaging	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
R4684:Usp5	UTSW	6	124,817,956 (GRCm38)	missense	probably damaging	1.00
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
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'- TAATGCAGCTGGGACTACCTC -3'
(R):5'- GCTCCTACACTTGCAAGCAC -3'

Sequencing Primer
(F):5'- TGGGACTACCTCAGCCAGTCTC -3'
(R):5'- ACTTGCCATGGTCGGAACTACTG -3'

Posted On

2022-02-07