Mutagenetix > Incidental Mutation

Incidental Mutation 'R0538:Usp20'

49542

Institutional Source

Beutler Lab

Gene Symbol

Usp20

Ensembl Gene

ENSMUSG00000026854

Gene Name

ubiquitin specific peptidase 20

Synonyms

1700055M05Rik, Vdu2

MMRRC Submission

038730-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0538 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30982279-31023586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31004450 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 126 (V126E)

Ref Sequence

ENSEMBL: ENSMUSP00000127388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061544] [ENSMUST00000102849] [ENSMUST00000125601] [ENSMUST00000128295] [ENSMUST00000138161] [ENSMUST00000142232] [ENSMUST00000170476]

AlphaFold

Q8C6M1

Predicted Effect

probably benign
Transcript: ENSMUST00000061544
AA Change: V126E

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000060167
Gene: ENSMUSG00000026854
AA Change: V126E

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	30	95	3.2e-18	PFAM
low complexity region	128	138	N/A	INTRINSIC
Pfam:UCH	144	210	2e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102849
AA Change: V126E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: V126E

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	30	95	4.3e-17	PFAM
low complexity region	128	138	N/A	INTRINSIC
Pfam:UCH	144	684	5e-63	PFAM
Pfam:UCH_1	145	669	8.8e-24	PFAM
DUSP	704	787	5.97e-28	SMART
DUSP	812	897	4.74e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125601

SMART Domains

Protein: ENSMUSP00000121699
Gene: ENSMUSG00000026854

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	30	66	1.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128295

SMART Domains

Protein: ENSMUSP00000115613
Gene: ENSMUSG00000026854

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	30	77	1.1e-11	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000136588
AA Change: V90E

SMART Domains

Protein: ENSMUSP00000119197
Gene: ENSMUSG00000026854
AA Change: V90E

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	10	60	6.4e-12	PFAM
low complexity region	93	103	N/A	INTRINSIC
Pfam:UCH	109	142	4.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138161

SMART Domains

Protein: ENSMUSP00000116696
Gene: ENSMUSG00000026854

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	30	77	1.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142232

SMART Domains

Protein: ENSMUSP00000115347
Gene: ENSMUSG00000026854

Domain	Start	End	E-Value	Type
PDB:2UZG\|A	70	99	5e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154634

Predicted Effect

probably damaging
Transcript: ENSMUST00000170476
AA Change: V126E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: V126E

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	30	95	3.4e-17	PFAM
low complexity region	128	138	N/A	INTRINSIC
Pfam:UCH	144	270	1.2e-26	PFAM
Pfam:UCH_1	145	669	6.1e-20	PFAM
Pfam:UCH	324	684	1.6e-31	PFAM
DUSP	704	787	5.97e-28	SMART
DUSP	812	897	4.74e-31	SMART

Meta Mutation Damage Score

0.1780

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

98% (126/129)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I07Rik	A	T	14: 66,938,374	H6L	unknown	Het
Abca13	G	A	11: 9,267,622		probably null	Het
Acad12	C	T	5: 121,607,448	R260Q	possibly damaging	Het
Actn1	G	A	12: 80,260,100		probably benign	Het
Acvrl1	A	G	15: 101,136,149	T182A	probably damaging	Het
Adam23	T	C	1: 63,567,844		probably benign	Het
Adamtsl1	A	T	4: 86,343,121	T1190S	probably benign	Het
Adh6b	A	T	3: 138,357,650	Y330F	probably benign	Het
Ak7	A	G	12: 105,766,617	E540G	probably damaging	Het
Akr1c19	T	A	13: 4,237,100	L106Q	probably damaging	Het
Ankrd12	A	T	17: 66,049,852	S57T	probably damaging	Het
Aoc3	G	A	11: 101,332,138	R400Q	possibly damaging	Het
Arel1	A	T	12: 84,941,837	I46N	probably damaging	Het
Armc5	A	G	7: 128,244,291	D752G	probably damaging	Het
Atp11b	T	C	3: 35,837,014	V812A	probably damaging	Het
Axin1	A	G	17: 26,184,241	H131R	possibly damaging	Het
Bpifb3	A	G	2: 153,923,869	E184G	probably benign	Het
Cacna2d2	T	C	9: 107,524,383		probably benign	Het
Catsperd	T	C	17: 56,662,828	F641L	probably benign	Het
Ccdc83	A	C	7: 90,228,383	L284V	probably damaging	Het
Ccnt2	T	A	1: 127,803,165	V593E	probably damaging	Het
Cd53	T	A	3: 106,762,128	I185F	probably benign	Het
Cep350	A	T	1: 155,848,620	D3077E	possibly damaging	Het
Ces1h	C	A	8: 93,357,000		probably null	Het
Chrna3	T	A	9: 55,016,006	T173S	probably benign	Het
Clca4b	T	C	3: 144,921,956	D418G	probably benign	Het
Col11a2	T	C	17: 34,051,328		probably benign	Het
Coq2	T	A	5: 100,668,023	I97F	possibly damaging	Het
Cr2	A	G	1: 195,160,359		probably benign	Het
Ctgf	T	A	10: 24,596,466	C136S	probably damaging	Het
D2hgdh	A	G	1: 93,826,377	Y24C	probably damaging	Het
D630045J12Rik	G	A	6: 38,191,693	R974C	probably damaging	Het
Dach1	A	G	14: 97,903,279	V429A	possibly damaging	Het
Ddr1	G	A	17: 35,685,007	T660I	probably damaging	Het
Dlg1	A	C	16: 31,796,864		probably null	Het
Dmbt1	T	C	7: 131,049,901		probably benign	Het
Dmxl2	A	T	9: 54,393,836	D2330E	probably benign	Het
Doc2a	A	G	7: 126,848,811	T5A	probably benign	Het
Dock2	G	A	11: 34,704,718		probably benign	Het
Dok4	T	A	8: 94,865,238	Y290F	probably damaging	Het
Dopey1	A	G	9: 86,485,497	D11G	probably damaging	Het
E230025N22Rik	T	C	18: 36,688,934	H235R	probably benign	Het
Ear6	A	G	14: 51,854,452	D152G	probably damaging	Het
Ecscr	T	A	18: 35,713,636		probably benign	Het
Eml6	A	T	11: 29,760,010		probably benign	Het
Epha4	T	A	1: 77,388,541	Q607L	probably damaging	Het
Exoc4	A	G	6: 33,972,063	N947S	probably benign	Het
Flg	A	G	3: 93,279,460	E73G	probably damaging	Het
Fndc1	C	T	17: 7,784,341		probably benign	Het
Gad1-ps	T	C	10: 99,444,992		noncoding transcript	Het
Gata6	A	G	18: 11,064,771	T528A	probably benign	Het
Gjd4	T	C	18: 9,280,244	E278G	probably benign	Het
Gm13101	T	A	4: 143,965,083	T357S	possibly damaging	Het
Gm20091	T	A	10: 96,409,002		noncoding transcript	Het
Gnb3	G	A	6: 124,835,696	Q266*	probably null	Het
Grm3	A	G	5: 9,512,446	V468A	possibly damaging	Het
Igf1r	C	T	7: 68,207,826	R1085C	probably damaging	Het
Igsf10	T	C	3: 59,320,106	T2049A	probably damaging	Het
Jak3	A	T	8: 71,685,482	D859V	probably benign	Het
Kcnb2	G	T	1: 15,712,884		probably benign	Het
Kcnh3	G	A	15: 99,240,958	G858D	probably benign	Het
Kif1a	C	A	1: 93,043,638	R1006L	probably damaging	Het
Klhl23	C	T	2: 69,824,413	A209V	probably benign	Het
Mapk13	T	C	17: 28,775,255	Y104H	probably damaging	Het
Mbd4	A	G	6: 115,849,482	S183P	probably damaging	Het
Mga	T	C	2: 119,919,706		probably null	Het
Mipol1	G	A	12: 57,414,411		probably null	Het
Mmp14	A	G	14: 54,438,709	T299A	possibly damaging	Het
Mmrn1	A	G	6: 60,976,469	E578G	probably benign	Het
Mov10l1	G	A	15: 88,994,860	C193Y	possibly damaging	Het
Mppe1	A	G	18: 67,237,477	C50R	probably damaging	Het
Msantd1	C	A	5: 34,917,725	R44S	probably damaging	Het
Myt1l	T	C	12: 29,842,571	V69A	possibly damaging	Het
Nav1	A	T	1: 135,464,692		probably benign	Het
Ncan	A	G	8: 70,108,602	S572P	possibly damaging	Het
Nck2	T	C	1: 43,569,144		probably benign	Het
Nemf	A	T	12: 69,356,314	D31E	probably damaging	Het
Nlrp12	T	C	7: 3,249,262	D93G	possibly damaging	Het
Nsmaf	A	T	4: 6,419,930		probably null	Het
Nup98	T	C	7: 102,186,685	T184A	probably damaging	Het
Olfr1415	A	T	1: 92,491,333	C141S	possibly damaging	Het
Olfr46	A	T	7: 140,610,384	N73Y	probably damaging	Het
Olfr522	A	T	7: 140,162,231	S240T	probably damaging	Het
Oog2	C	A	4: 144,196,084	Y306*	probably null	Het
Osmr	A	G	15: 6,841,938		probably benign	Het
P2rx6	A	G	16: 17,568,298	N275S	probably benign	Het
Papd4	A	T	13: 93,175,615		probably benign	Het
Pbxip1	G	T	3: 89,447,619	G482W	possibly damaging	Het
Pcsk4	T	G	10: 80,325,334	I249L	probably damaging	Het
Pou4f2	C	T	8: 78,435,662	G104E	probably damaging	Het
Prkdc	G	T	16: 15,833,788	R3763L	probably damaging	Het
Ptpre	A	T	7: 135,663,315	I207F	probably damaging	Het
Rapgef3	A	T	15: 97,757,817		probably benign	Het
Rasgrp1	T	G	2: 117,284,947	K685T	probably benign	Het
Rnf148	C	T	6: 23,654,238	R253Q	probably damaging	Het
Rock1	T	C	18: 10,132,227	I241V	possibly damaging	Het
Rp1l1	T	G	14: 64,022,092	V61G	probably damaging	Het
Scin	A	C	12: 40,081,771	S255A	probably damaging	Het
Scn8a	A	T	15: 101,035,624	K1570*	probably null	Het
Sec14l4	A	C	11: 4,040,018	M106L	probably benign	Het
Sec63	G	A	10: 42,798,799	R226H	probably benign	Het
Sept2	T	A	1: 93,501,623	N271K	probably damaging	Het
Serac1	G	T	17: 6,048,826		probably benign	Het
Shc2	T	A	10: 79,630,140		probably benign	Het
Sipa1l1	T	A	12: 82,425,099	D1284E	probably benign	Het
Slc11a2	A	G	15: 100,408,216	L105P	probably damaging	Het
Slc1a3	T	A	15: 8,650,922	T151S	probably benign	Het
Smarca2	G	T	19: 26,691,362	K920N	probably damaging	Het
Sugp2	G	A	8: 70,258,948	E964K	probably damaging	Het
Tas2r122	A	C	6: 132,711,815	N38K	probably benign	Het
Tecpr1	G	A	5: 144,206,274	R730C	probably damaging	Het
Themis3	G	T	17: 66,593,270	N34K	possibly damaging	Het
Traf3ip1	A	G	1: 91,499,619	T104A	unknown	Het
Trappc11	A	G	8: 47,503,412	V843A	probably benign	Het
Trmt61a	T	A	12: 111,678,927	L99Q	probably damaging	Het
Trp53tg5	T	A	2: 164,471,481	K91N	probably damaging	Het
Ufsp2	T	C	8: 45,992,150	S339P	probably damaging	Het
Vmn1r75	T	A	7: 11,880,870	N176K	probably damaging	Het
Vmn2r24	A	G	6: 123,816,053	S780G	probably benign	Het
Vmn2r89	A	G	14: 51,457,591		probably null	Het
Vps13d	A	T	4: 145,045,095	S4038T	probably damaging	Het
Vwa7	A	G	17: 35,022,651	T421A	probably damaging	Het
Wdr78	T	C	4: 103,096,618	N128S	possibly damaging	Het
Wdr95	C	A	5: 149,580,806	L332I	probably damaging	Het
Wrn	T	A	8: 33,336,091	K181I	probably damaging	Het
Zc3h6	T	A	2: 129,017,223	I1058N	possibly damaging	Het
Zfp423	T	A	8: 87,782,085	I544F	probably damaging	Het
Zfp446	T	A	7: 12,979,589	S161T	possibly damaging	Het
Zmym6	T	A	4: 127,123,369	M889K	probably benign	Het

Other mutations in Usp20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Usp20	APN	2	31004950	missense	probably damaging	1.00
IGL01444:Usp20	APN	2	30998789	start codon destroyed	probably null	1.00
IGL01601:Usp20	APN	2	31011794	missense	probably benign	0.04
IGL01785:Usp20	APN	2	31017163	missense	probably benign	0.02
IGL01786:Usp20	APN	2	31017163	missense	probably benign	0.02
IGL02129:Usp20	APN	2	31004450	missense	probably benign	0.43
IGL02147:Usp20	APN	2	31006401	missense	probably damaging	1.00
IGL03396:Usp20	APN	2	31011717	missense	probably benign
BB007:Usp20	UTSW	2	31010544	missense	probably benign	0.21
BB017:Usp20	UTSW	2	31010544	missense	probably benign	0.21
PIT4453001:Usp20	UTSW	2	31017486	missense	possibly damaging	0.47
R0111:Usp20	UTSW	2	31002612	missense	probably damaging	1.00
R0369:Usp20	UTSW	2	31011104	missense	probably benign	0.00
R0479:Usp20	UTSW	2	31017475	missense	probably benign	0.18
R1023:Usp20	UTSW	2	31007813	missense	probably damaging	1.00
R1183:Usp20	UTSW	2	31011785	missense	probably benign	0.17
R1635:Usp20	UTSW	2	31018818	missense	probably benign	0.03
R2114:Usp20	UTSW	2	31016305	missense	probably damaging	1.00
R2115:Usp20	UTSW	2	31016305	missense	probably damaging	1.00
R2116:Usp20	UTSW	2	31016305	missense	probably damaging	1.00
R2117:Usp20	UTSW	2	31016305	missense	probably damaging	1.00
R2232:Usp20	UTSW	2	31018738	missense	probably benign	0.13
R2244:Usp20	UTSW	2	31010331	missense	possibly damaging	0.65
R2883:Usp20	UTSW	2	31018800	missense	probably benign
R4734:Usp20	UTSW	2	31019824	missense	probably benign	0.31
R5507:Usp20	UTSW	2	31010226	missense	probably benign
R5770:Usp20	UTSW	2	31017508	missense	probably damaging	1.00
R5862:Usp20	UTSW	2	31006449	nonsense	probably null
R6315:Usp20	UTSW	2	31017758	missense	possibly damaging	0.70
R7603:Usp20	UTSW	2	31011474	missense	probably damaging	1.00
R7887:Usp20	UTSW	2	31020894	missense	probably benign	0.34
R7930:Usp20	UTSW	2	31010544	missense	probably benign	0.21
R8542:Usp20	UTSW	2	31011624	missense	possibly damaging	0.94
R8965:Usp20	UTSW	2	31011785	missense	possibly damaging	0.77
R9079:Usp20	UTSW	2	31005108	intron	probably benign
R9226:Usp20	UTSW	2	31017400	missense	probably damaging	0.99
R9417:Usp20	UTSW	2	30983018	critical splice acceptor site	probably null
R9459:Usp20	UTSW	2	31011012	missense	probably damaging	0.99
Z1176:Usp20	UTSW	2	31019818	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AAGTCTGAAAGTTCCCAGGGCAAG -3'
(R):5'- AACACCTAAGCAGGGCTGTGTG -3'

Sequencing Primer
(F):5'- GGCAAGGTCCCTGGTCTC -3'
(R):5'- GTGTCCAATGGCCCCTTAG -3'

Posted On

2013-06-12