Mutagenetix > Incidental Mutations

Incidental Mutation 'R1522:Usp5'

167519

Institutional Source

Beutler Lab

Gene Symbol

Usp5

Ensembl Gene

ENSMUSG00000038429

Gene Name

ubiquitin specific peptidase 5 (isopeptidase T)

Synonyms

Ucht

MMRRC Submission

040871-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1522 (G1)

Quality Score

210

Status

Not validated

Chromosome

Chromosomal Location

124815019-124829484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124825166 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 38 (T38A)

Ref Sequence

ENSEMBL: ENSMUSP00000118200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024270] [ENSMUST00000047510] [ENSMUST00000122110] [ENSMUST00000142058] [ENSMUST00000150120] [ENSMUST00000153306]

Predicted Effect

probably benign
Transcript: ENSMUST00000024270

Predicted Effect

probably benign
Transcript: ENSMUST00000047510
AA Change: T84A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
AA Change: T84A

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: T84A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
AA Change: T84A

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: ENSMUST00000141042

Predicted Effect

probably benign
Transcript: ENSMUST00000142058
AA Change: T84A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117439
Gene: ENSMUSG00000038429
AA Change: T84A

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: ENSMUST00000150120

Predicted Effect

probably benign
Transcript: ENSMUST00000153306
AA Change: T38A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118200
Gene: ENSMUSG00000038429
AA Change: T38A

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: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,162,586	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,610,694	W22R	probably damaging	Het
AA986860	A	G	1: 130,743,094	E351G	probably damaging	Het
Acsl5	T	C	19: 55,280,492	V195A	probably benign	Het
Adamts10	A	G	17: 33,537,319	D312G	probably benign	Het
Adgrb1	A	G	15: 74,580,617	M211V	probably damaging	Het
Ankfy1	C	T	11: 72,755,867	R859*	probably null	Het
Atp8b1	T	A	18: 64,550,432	I742L	probably benign	Het
B3galnt2	T	A	13: 13,970,769	V89E	probably damaging	Het
BC024978	A	G	7: 27,202,680	H244R	probably damaging	Het
Brinp3	A	C	1: 146,901,890	T692P	probably damaging	Het
C9	T	A	15: 6,486,762	F349I	probably damaging	Het
Cacna1a	T	A	8: 84,633,433	M1976K	probably benign	Het
Ccdc180	T	C	4: 45,927,975	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,931,276	V1846A	probably benign	Het
Ces1f	A	T	8: 93,271,889	Y160N	possibly damaging	Het
Cfap45	A	G	1: 172,540,572	E377G	probably damaging	Het
Clca3a1	T	A	3: 144,755,171	M240L	probably benign	Het
Clnk	G	A	5: 38,794,966	T10M	probably damaging	Het
Cntrl	T	A	2: 35,155,279	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,055,254	G375S	probably damaging	Het
Col6a5	T	A	9: 105,939,994	I373F	unknown	Het
Dmxl1	C	T	18: 49,852,367	A227V	probably benign	Het
Dok5	A	G	2: 170,732,132	N4D	probably benign	Het
Dpysl3	A	T	18: 43,363,557	V138D	probably damaging	Het
Efs	A	T	14: 54,919,715	Y380N	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Farp2	A	G	1: 93,618,553	Q855R	possibly damaging	Het
Fcrls	A	C	3: 87,256,707	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,944,229	A113V	probably damaging	Het
Gatsl2	T	G	5: 134,125,887	S43R	probably damaging	Het
Gda	T	A	19: 21,412,539	E219D	probably benign	Het
Gli1	A	T	10: 127,332,577	M469K	probably damaging	Het
Gm4847	A	T	1: 166,641,650	S148R	probably damaging	Het
Golga2	T	C	2: 32,302,204	V325A	probably benign	Het
Hpf1	A	G	8: 60,896,749	D137G	probably damaging	Het
Htr2a	C	G	14: 74,705,853	S291*	probably null	Het
Itga5	G	A	15: 103,356,782	Q233*	probably null	Het
Jazf1	C	A	6: 52,812,183	R102L	probably damaging	Het
Kif6	T	G	17: 49,714,113	L322R	probably damaging	Het
Ktn1	A	C	14: 47,667,416	K217T	probably damaging	Het
Lig4	A	T	8: 9,973,012	V256E	possibly damaging	Het
Lrp1	G	T	10: 127,567,364	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,575,286	D1399E	probably benign	Het
Mmel1	A	G	4: 154,894,986	E717G	probably damaging	Het
Mndal	G	T	1: 173,871,466	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,511,623		probably null	Het
Nedd1	T	C	10: 92,719,614	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,435,909	N551K	probably damaging	Het
Nup210	G	A	6: 91,069,166	P595L	possibly damaging	Het
Olfr117	A	T	17: 37,659,770	C188S	probably damaging	Het
Olfr1302	A	T	2: 111,780,348		probably null	Het
Olfr199	T	G	16: 59,215,984	T210P	probably damaging	Het
Olfr477	A	G	7: 107,990,533	H56R	probably benign	Het
Olfr697	A	G	7: 106,741,005	C310R	probably benign	Het
Pank3	G	A	11: 35,781,681	V304M	probably benign	Het
Phf3	G	A	1: 30,805,648	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,525,157	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,497,425	D73G	probably damaging	Het
Prelid2	T	G	18: 41,881,267	M165L	probably benign	Het
Prkd3	A	C	17: 78,952,696	L826R	probably damaging	Het
Ptchd4	A	T	17: 42,503,542	N778I	probably damaging	Het
Ptprm	T	C	17: 66,693,871	D1063G	possibly damaging	Het
Rab27a	C	A	9: 73,075,482	T23N	probably damaging	Het
Rasgrf2	A	T	13: 91,896,086	F949L	probably benign	Het
Rbm33	A	G	5: 28,337,004	N68D	probably damaging	Het
Rgl1	A	T	1: 152,586,533	L109Q	probably damaging	Het
Rnf20	A	G	4: 49,638,197	N103S	possibly damaging	Het
Sbno1	G	A	5: 124,392,612	L875F	probably damaging	Het
Scube1	T	A	15: 83,628,076		probably null	Het
Selenbp1	G	A	3: 94,937,358	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,151,546	I178F	probably damaging	Het
Shisa8	C	T	15: 82,208,501	G63D	probably damaging	Het
Snx14	T	C	9: 88,402,224	R464G	possibly damaging	Het
Snx25	A	T	8: 46,124,082	M1K	probably null	Het
Sorcs3	C	A	19: 48,706,009	T574K	possibly damaging	Het
Syne2	A	G	12: 76,103,783	E6528G	probably damaging	Het
Syt5	T	C	7: 4,540,246	E338G	probably damaging	Het
Tbk1	T	C	10: 121,551,318	K691E	probably benign	Het
Tenm3	G	A	8: 48,395,576	T11I	probably damaging	Het
Thrb	A	G	14: 18,002,597	H87R	probably damaging	Het
Tlr4	T	A	4: 66,839,696	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,406,002	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,886,471	R66*	probably null	Het
Tmem39b	G	T	4: 129,684,482	D315E	probably benign	Het
Tnxb	T	C	17: 34,718,638	F3834L	probably damaging	Het
Trim36	A	T	18: 46,186,183	L225*	probably null	Het
Trim42	A	T	9: 97,365,679	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,640	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,978,334	I1091T	probably benign	Het
Tst	T	C	15: 78,399,943	E228G	possibly damaging	Het
Ttn	T	C	2: 76,871,716		probably benign	Het
Uap1	A	C	1: 170,150,941		probably null	Het
Ush2a	T	C	1: 188,797,814	S3267P	possibly damaging	Het
Uvssa	A	T	5: 33,387,808	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,843,268	H113P	probably damaging	Het
Vps13d	A	T	4: 145,098,172		probably null	Het
Zfp182	T	A	X: 21,031,560	I166L	probably benign	Het
Zfp811	A	T	17: 32,797,648	Y472N	probably damaging	Het

Other mutations in Usp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Usp5	APN	6	124829353	missense	probably benign	0.00
IGL00905:Usp5	APN	6	124815613	missense	probably damaging	1.00
IGL01584:Usp5	APN	6	124819387	missense	probably damaging	1.00
IGL01642:Usp5	APN	6	124820453	missense	probably damaging	0.99
IGL01787:Usp5	APN	6	124824226	missense	possibly damaging	0.95
IGL02394:Usp5	APN	6	124822709	missense	probably damaging	1.00
IGL02677:Usp5	APN	6	124819426	missense	probably damaging	1.00
IGL03392:Usp5	APN	6	124826387	missense	probably damaging	1.00
BB004:Usp5	UTSW	6	124824229	missense	probably benign	0.06
BB014:Usp5	UTSW	6	124824229	missense	probably benign	0.06
R0594:Usp5	UTSW	6	124817424	missense	probably damaging	0.99
R1719:Usp5	UTSW	6	124823460	missense	possibly damaging	0.94
R2185:Usp5	UTSW	6	124817410	missense	probably damaging	0.99
R3115:Usp5	UTSW	6	124815597	missense	probably damaging	1.00
R4196:Usp5	UTSW	6	124824938	missense	possibly damaging	0.78
R4347:Usp5	UTSW	6	124821195	missense	probably damaging	1.00
R4386:Usp5	UTSW	6	124818474	critical splice donor site	probably null
R4500:Usp5	UTSW	6	124822630	missense	possibly damaging	0.71
R4501:Usp5	UTSW	6	124822630	missense	possibly damaging	0.71
R4526:Usp5	UTSW	6	124822630	missense	possibly damaging	0.71
R4527:Usp5	UTSW	6	124822630	missense	possibly damaging	0.71
R4528:Usp5	UTSW	6	124822630	missense	possibly damaging	0.71
R4684:Usp5	UTSW	6	124817956	missense	probably damaging	1.00
R4912:Usp5	UTSW	6	124822630	missense	possibly damaging	0.71
R4913:Usp5	UTSW	6	124822630	missense	possibly damaging	0.71
R4954:Usp5	UTSW	6	124822630	missense	possibly damaging	0.71
R4956:Usp5	UTSW	6	124822630	missense	possibly damaging	0.71
R4957:Usp5	UTSW	6	124822630	missense	possibly damaging	0.71
R4958:Usp5	UTSW	6	124822630	missense	possibly damaging	0.71
R5071:Usp5	UTSW	6	124826379	missense	probably benign	0.13
R6020:Usp5	UTSW	6	124817613	unclassified	probably benign
R6236:Usp5	UTSW	6	124818478	missense	probably benign	0.05
R6370:Usp5	UTSW	6	124820428	missense	probably benign	0.01
R7090:Usp5	UTSW	6	124829394	start codon destroyed	probably null
R7317:Usp5	UTSW	6	124826318	missense	probably damaging	0.98
R7447:Usp5	UTSW	6	124821114	missense	probably damaging	1.00
R7572:Usp5	UTSW	6	124818007	missense	probably damaging	0.99
R7598:Usp5	UTSW	6	124826379	missense	possibly damaging	0.73
R7927:Usp5	UTSW	6	124824229	missense	probably benign	0.06
R7931:Usp5	UTSW	6	124824446	intron	probably benign
R8089:Usp5	UTSW	6	124820410	critical splice donor site	probably null
R8361:Usp5	UTSW	6	124824985	missense	probably damaging	1.00
R8544:Usp5	UTSW	6	124823517	missense	probably damaging	1.00
X0058:Usp5	UTSW	6	124824176	missense	probably damaging	1.00
Z1177:Usp5	UTSW	6	124825148	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGCAGCTACCATTTGTCATCATGTCTC -3'
(R):5'- TGCTCTCATTTGTGTCACTGAAACCTG -3'

Sequencing Primer
(F):5'- CCAATTTGTCCCCTCCAGAG -3'
(R):5'- GTCACTGAAACCTGACTGTTG -3'

Posted On

2014-04-13