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

Vdu2, 1700055M05Rik

MMRRC Submission

038730-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0538 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30872291-30912667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30894462 bp (GRCm39)

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154351

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: 67,175,823 (GRCm39)	H6L	unknown	Het
Abca13	G	A	11: 9,217,622 (GRCm39)		probably null	Het
Acad12	C	T	5: 121,745,511 (GRCm39)	R260Q	possibly damaging	Het
Actn1	G	A	12: 80,306,874 (GRCm39)		probably benign	Het
Acvrl1	A	G	15: 101,034,030 (GRCm39)	T182A	probably damaging	Het
Adam23	T	C	1: 63,607,003 (GRCm39)		probably benign	Het
Adamtsl1	A	T	4: 86,261,358 (GRCm39)	T1190S	probably benign	Het
Adh6b	A	T	3: 138,063,411 (GRCm39)	Y330F	probably benign	Het
Ak7	A	G	12: 105,732,876 (GRCm39)	E540G	probably damaging	Het
Akr1c19	T	A	13: 4,287,099 (GRCm39)	L106Q	probably damaging	Het
Ankrd12	A	T	17: 66,356,847 (GRCm39)	S57T	probably damaging	Het
Aoc3	G	A	11: 101,222,964 (GRCm39)	R400Q	possibly damaging	Het
Arel1	A	T	12: 84,988,611 (GRCm39)	I46N	probably damaging	Het
Armc5	A	G	7: 127,843,463 (GRCm39)	D752G	probably damaging	Het
Atp11b	T	C	3: 35,891,163 (GRCm39)	V812A	probably damaging	Het
Axin1	A	G	17: 26,403,215 (GRCm39)	H131R	possibly damaging	Het
Bpifb3	A	G	2: 153,765,789 (GRCm39)	E184G	probably benign	Het
Cacna2d2	T	C	9: 107,401,582 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,969,828 (GRCm39)	F641L	probably benign	Het
Ccdc83	A	C	7: 89,877,591 (GRCm39)	L284V	probably damaging	Het
Ccn2	T	A	10: 24,472,364 (GRCm39)	C136S	probably damaging	Het
Ccnt2	T	A	1: 127,730,902 (GRCm39)	V593E	probably damaging	Het
Cd53	T	A	3: 106,669,444 (GRCm39)	I185F	probably benign	Het
Cep350	A	T	1: 155,724,366 (GRCm39)	D3077E	possibly damaging	Het
Ces1h	C	A	8: 94,083,628 (GRCm39)		probably null	Het
Chrna3	T	A	9: 54,923,290 (GRCm39)	T173S	probably benign	Het
Clca4b	T	C	3: 144,627,717 (GRCm39)	D418G	probably benign	Het
Col11a2	T	C	17: 34,270,302 (GRCm39)		probably benign	Het
Coq2	T	A	5: 100,815,889 (GRCm39)	I97F	possibly damaging	Het
Cr2	A	G	1: 194,842,667 (GRCm39)		probably benign	Het
D2hgdh	A	G	1: 93,754,099 (GRCm39)	Y24C	probably damaging	Het
D630045J12Rik	G	A	6: 38,168,628 (GRCm39)	R974C	probably damaging	Het
Dach1	A	G	14: 98,140,715 (GRCm39)	V429A	possibly damaging	Het
Ddr1	G	A	17: 35,995,899 (GRCm39)	T660I	probably damaging	Het
Dlg1	A	C	16: 31,615,682 (GRCm39)		probably null	Het
Dmbt1	T	C	7: 130,651,631 (GRCm39)		probably benign	Het
Dmxl2	A	T	9: 54,301,120 (GRCm39)	D2330E	probably benign	Het
Dnai4	T	C	4: 102,953,815 (GRCm39)	N128S	possibly damaging	Het
Doc2a	A	G	7: 126,447,983 (GRCm39)	T5A	probably benign	Het
Dock2	G	A	11: 34,595,545 (GRCm39)		probably benign	Het
Dok4	T	A	8: 95,591,866 (GRCm39)	Y290F	probably damaging	Het
Dop1a	A	G	9: 86,367,550 (GRCm39)	D11G	probably damaging	Het
E230025N22Rik	T	C	18: 36,821,987 (GRCm39)	H235R	probably benign	Het
Ear6	A	G	14: 52,091,909 (GRCm39)	D152G	probably damaging	Het
Ecscr	T	A	18: 35,846,689 (GRCm39)		probably benign	Het
Eml6	A	T	11: 29,710,010 (GRCm39)		probably benign	Het
Epha4	T	A	1: 77,365,178 (GRCm39)	Q607L	probably damaging	Het
Exoc4	A	G	6: 33,948,998 (GRCm39)	N947S	probably benign	Het
Flg	A	G	3: 93,186,767 (GRCm39)	E73G	probably damaging	Het
Fndc1	C	T	17: 8,003,173 (GRCm39)		probably benign	Het
Gad1-ps	T	C	10: 99,280,854 (GRCm39)		noncoding transcript	Het
Gata6	A	G	18: 11,064,771 (GRCm39)	T528A	probably benign	Het
Gjd4	T	C	18: 9,280,244 (GRCm39)	E278G	probably benign	Het
Gm20091	T	A	10: 96,244,864 (GRCm39)		noncoding transcript	Het
Gnb3	G	A	6: 124,812,659 (GRCm39)	Q266*	probably null	Het
Grm3	A	G	5: 9,562,446 (GRCm39)	V468A	possibly damaging	Het
Igf1r	C	T	7: 67,857,574 (GRCm39)	R1085C	probably damaging	Het
Igsf10	T	C	3: 59,227,527 (GRCm39)	T2049A	probably damaging	Het
Jak3	A	T	8: 72,138,126 (GRCm39)	D859V	probably benign	Het
Kcnb2	G	T	1: 15,783,108 (GRCm39)		probably benign	Het
Kcnh3	G	A	15: 99,138,839 (GRCm39)	G858D	probably benign	Het
Kif1a	C	A	1: 92,971,360 (GRCm39)	R1006L	probably damaging	Het
Klhl23	C	T	2: 69,654,757 (GRCm39)	A209V	probably benign	Het
Mapk13	T	C	17: 28,994,229 (GRCm39)	Y104H	probably damaging	Het
Mbd4	A	G	6: 115,826,443 (GRCm39)	S183P	probably damaging	Het
Mga	T	C	2: 119,750,187 (GRCm39)		probably null	Het
Mipol1	G	A	12: 57,461,197 (GRCm39)		probably null	Het
Mmp14	A	G	14: 54,676,166 (GRCm39)	T299A	possibly damaging	Het
Mmrn1	A	G	6: 60,953,453 (GRCm39)	E578G	probably benign	Het
Mov10l1	G	A	15: 88,879,063 (GRCm39)	C193Y	possibly damaging	Het
Mppe1	A	G	18: 67,370,548 (GRCm39)	C50R	probably damaging	Het
Msantd1	C	A	5: 35,075,069 (GRCm39)	R44S	probably damaging	Het
Myt1l	T	C	12: 29,892,570 (GRCm39)	V69A	possibly damaging	Het
Nav1	A	T	1: 135,392,430 (GRCm39)		probably benign	Het
Ncan	A	G	8: 70,561,252 (GRCm39)	S572P	possibly damaging	Het
Nck2	T	C	1: 43,608,304 (GRCm39)		probably benign	Het
Nemf	A	T	12: 69,403,088 (GRCm39)	D31E	probably damaging	Het
Nlrp12	T	C	7: 3,297,892 (GRCm39)	D93G	possibly damaging	Het
Nsmaf	A	T	4: 6,419,930 (GRCm39)		probably null	Het
Nup98	T	C	7: 101,835,892 (GRCm39)	T184A	probably damaging	Het
Oog2	C	A	4: 143,922,654 (GRCm39)	Y306*	probably null	Het
Or13a18	A	T	7: 140,190,297 (GRCm39)	N73Y	probably damaging	Het
Or6ae1	A	T	7: 139,742,144 (GRCm39)	S240T	probably damaging	Het
Or6b2b	A	T	1: 92,419,055 (GRCm39)	C141S	possibly damaging	Het
Osmr	A	G	15: 6,871,419 (GRCm39)		probably benign	Het
P2rx6	A	G	16: 17,386,162 (GRCm39)	N275S	probably benign	Het
Pbxip1	G	T	3: 89,354,926 (GRCm39)	G482W	possibly damaging	Het
Pcsk4	T	G	10: 80,161,168 (GRCm39)	I249L	probably damaging	Het
Pou4f2	C	T	8: 79,162,291 (GRCm39)	G104E	probably damaging	Het
Pramel28	T	A	4: 143,691,653 (GRCm39)	T357S	possibly damaging	Het
Prkdc	G	T	16: 15,651,652 (GRCm39)	R3763L	probably damaging	Het
Ptpre	A	T	7: 135,265,044 (GRCm39)	I207F	probably damaging	Het
Rapgef3	A	T	15: 97,655,698 (GRCm39)		probably benign	Het
Rasgrp1	T	G	2: 117,115,428 (GRCm39)	K685T	probably benign	Het
Rnf148	C	T	6: 23,654,237 (GRCm39)	R253Q	probably damaging	Het
Rock1	T	C	18: 10,132,227 (GRCm39)	I241V	possibly damaging	Het
Rp1l1	T	G	14: 64,259,541 (GRCm39)	V61G	probably damaging	Het
Scin	A	C	12: 40,131,770 (GRCm39)	S255A	probably damaging	Het
Scn8a	A	T	15: 100,933,505 (GRCm39)	K1570*	probably null	Het
Sec14l4	A	C	11: 3,990,018 (GRCm39)	M106L	probably benign	Het
Sec63	G	A	10: 42,674,795 (GRCm39)	R226H	probably benign	Het
Septin2	T	A	1: 93,429,345 (GRCm39)	N271K	probably damaging	Het
Serac1	G	T	17: 6,099,101 (GRCm39)		probably benign	Het
Shc2	T	A	10: 79,465,974 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,471,873 (GRCm39)	D1284E	probably benign	Het
Slc11a2	A	G	15: 100,306,097 (GRCm39)	L105P	probably damaging	Het
Slc1a3	T	A	15: 8,680,406 (GRCm39)	T151S	probably benign	Het
Smarca2	G	T	19: 26,668,762 (GRCm39)	K920N	probably damaging	Het
Sugp2	G	A	8: 70,711,598 (GRCm39)	E964K	probably damaging	Het
Tas2r122	A	C	6: 132,688,778 (GRCm39)	N38K	probably benign	Het
Tecpr1	G	A	5: 144,143,092 (GRCm39)	R730C	probably damaging	Het
Tent2	A	T	13: 93,312,123 (GRCm39)		probably benign	Het
Themis3	G	T	17: 66,900,265 (GRCm39)	N34K	possibly damaging	Het
Traf3ip1	A	G	1: 91,427,341 (GRCm39)	T104A	unknown	Het
Trappc11	A	G	8: 47,956,447 (GRCm39)	V843A	probably benign	Het
Trmt61a	T	A	12: 111,645,361 (GRCm39)	L99Q	probably damaging	Het
Trp53tg5	T	A	2: 164,313,401 (GRCm39)	K91N	probably damaging	Het
Ufsp2	T	C	8: 46,445,187 (GRCm39)	S339P	probably damaging	Het
Vmn1r75	T	A	7: 11,614,797 (GRCm39)	N176K	probably damaging	Het
Vmn2r24	A	G	6: 123,793,012 (GRCm39)	S780G	probably benign	Het
Vmn2r89	A	G	14: 51,695,048 (GRCm39)		probably null	Het
Vps13d	A	T	4: 144,771,665 (GRCm39)	S4038T	probably damaging	Het
Vwa7	A	G	17: 35,241,627 (GRCm39)	T421A	probably damaging	Het
Wdr95	C	A	5: 149,504,271 (GRCm39)	L332I	probably damaging	Het
Wrn	T	A	8: 33,826,119 (GRCm39)	K181I	probably damaging	Het
Zc3h6	T	A	2: 128,859,143 (GRCm39)	I1058N	possibly damaging	Het
Zfp423	T	A	8: 88,508,713 (GRCm39)	I544F	probably damaging	Het
Zfp446	T	A	7: 12,713,516 (GRCm39)	S161T	possibly damaging	Het
Zmym6	T	A	4: 127,017,162 (GRCm39)	M889K	probably benign	Het

Other mutations in Usp20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Usp20	APN	2	30,894,962 (GRCm39)	missense	probably damaging	1.00
IGL01444:Usp20	APN	2	30,888,801 (GRCm39)	start codon destroyed	probably null	1.00
IGL01601:Usp20	APN	2	30,901,806 (GRCm39)	missense	probably benign	0.04
IGL01785:Usp20	APN	2	30,907,175 (GRCm39)	missense	probably benign	0.02
IGL01786:Usp20	APN	2	30,907,175 (GRCm39)	missense	probably benign	0.02
IGL02129:Usp20	APN	2	30,894,462 (GRCm39)	missense	probably benign	0.43
IGL02147:Usp20	APN	2	30,896,413 (GRCm39)	missense	probably damaging	1.00
IGL03396:Usp20	APN	2	30,901,729 (GRCm39)	missense	probably benign
BB007:Usp20	UTSW	2	30,900,556 (GRCm39)	missense	probably benign	0.21
BB017:Usp20	UTSW	2	30,900,556 (GRCm39)	missense	probably benign	0.21
PIT4453001:Usp20	UTSW	2	30,907,498 (GRCm39)	missense	possibly damaging	0.47
R0111:Usp20	UTSW	2	30,892,624 (GRCm39)	missense	probably damaging	1.00
R0369:Usp20	UTSW	2	30,901,116 (GRCm39)	missense	probably benign	0.00
R0479:Usp20	UTSW	2	30,907,487 (GRCm39)	missense	probably benign	0.18
R1023:Usp20	UTSW	2	30,897,825 (GRCm39)	missense	probably damaging	1.00
R1183:Usp20	UTSW	2	30,901,797 (GRCm39)	missense	probably benign	0.17
R1635:Usp20	UTSW	2	30,908,830 (GRCm39)	missense	probably benign	0.03
R2114:Usp20	UTSW	2	30,906,317 (GRCm39)	missense	probably damaging	1.00
R2115:Usp20	UTSW	2	30,906,317 (GRCm39)	missense	probably damaging	1.00
R2116:Usp20	UTSW	2	30,906,317 (GRCm39)	missense	probably damaging	1.00
R2117:Usp20	UTSW	2	30,906,317 (GRCm39)	missense	probably damaging	1.00
R2232:Usp20	UTSW	2	30,908,750 (GRCm39)	missense	probably benign	0.13
R2244:Usp20	UTSW	2	30,900,343 (GRCm39)	missense	possibly damaging	0.65
R2883:Usp20	UTSW	2	30,908,812 (GRCm39)	missense	probably benign
R4734:Usp20	UTSW	2	30,909,836 (GRCm39)	missense	probably benign	0.31
R5507:Usp20	UTSW	2	30,900,238 (GRCm39)	missense	probably benign
R5770:Usp20	UTSW	2	30,907,520 (GRCm39)	missense	probably damaging	1.00
R5862:Usp20	UTSW	2	30,896,461 (GRCm39)	nonsense	probably null
R6315:Usp20	UTSW	2	30,907,770 (GRCm39)	missense	possibly damaging	0.70
R7603:Usp20	UTSW	2	30,901,486 (GRCm39)	missense	probably damaging	1.00
R7887:Usp20	UTSW	2	30,910,906 (GRCm39)	missense	probably benign	0.34
R7930:Usp20	UTSW	2	30,900,556 (GRCm39)	missense	probably benign	0.21
R8542:Usp20	UTSW	2	30,901,636 (GRCm39)	missense	possibly damaging	0.94
R8965:Usp20	UTSW	2	30,901,797 (GRCm39)	missense	possibly damaging	0.77
R9079:Usp20	UTSW	2	30,895,120 (GRCm39)	intron	probably benign
R9226:Usp20	UTSW	2	30,907,412 (GRCm39)	missense	probably damaging	0.99
R9417:Usp20	UTSW	2	30,873,030 (GRCm39)	critical splice acceptor site	probably null
R9459:Usp20	UTSW	2	30,901,024 (GRCm39)	missense	probably damaging	0.99
Z1176:Usp20	UTSW	2	30,909,830 (GRCm39)	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