Mutagenetix > Incidental Mutation

Incidental Mutation 'R2115:Usp20'

232992

Institutional Source

Beutler Lab

Gene Symbol

Usp20

Ensembl Gene

ENSMUSG00000026854

Gene Name

ubiquitin specific peptidase 20

Synonyms

1700055M05Rik, Vdu2

MMRRC Submission

040119-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2115 (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 31016305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 562 (C562S)

Ref Sequence

ENSEMBL: ENSMUSP00000127388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102849] [ENSMUST00000170476]

AlphaFold

Q8C6M1

Predicted Effect

probably damaging
Transcript: ENSMUST00000102849
AA Change: C562S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: C562S

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

noncoding transcript
Transcript: ENSMUST00000127776

Predicted Effect

probably damaging
Transcript: ENSMUST00000170476
AA Change: C562S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: C562S

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

0.8607

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030462N17Rik	T	C	18: 77,674,472 (GRCm38)	D48G	possibly damaging	Het
Aatk	T	C	11: 120,009,736 (GRCm38)	T1195A	probably benign	Het
Abca12	A	T	1: 71,244,771 (GRCm38)	N2547K	probably benign	Het
Abca16	A	C	7: 120,540,645 (GRCm38)	E1510A	probably damaging	Het
Adam5	A	G	8: 24,744,145 (GRCm38)		probably benign	Het
Akna	G	A	4: 63,395,160 (GRCm38)	P242L	probably benign	Het
Akr1b7	G	A	6: 34,418,994 (GRCm38)	A144T	possibly damaging	Het
Ankhd1	T	A	18: 36,634,308 (GRCm38)	S1167T	probably damaging	Het
Arf5	C	T	6: 28,424,784 (GRCm38)	Q71*	probably null	Het
Arl15	C	T	13: 113,967,660 (GRCm38)	S111F	probably damaging	Het
Atxn1l	C	T	8: 109,732,608 (GRCm38)	A341T	probably benign	Het
Birc7	C	A	2: 180,930,849 (GRCm38)	Q138K	possibly damaging	Het
Blvra	G	T	2: 127,086,069 (GRCm38)	E80*	probably null	Het
Ccdc148	T	C	2: 59,002,116 (GRCm38)	E188G	probably damaging	Het
Chad	C	T	11: 94,568,226 (GRCm38)	A318V	probably benign	Het
Cntfr	A	G	4: 41,663,534 (GRCm38)		probably null	Het
Dirc2	T	C	16: 35,697,939 (GRCm38)	D468G	probably benign	Het
Dnah17	C	T	11: 118,119,802 (GRCm38)	C230Y	probably benign	Het
Dnmt3l	C	A	10: 78,063,296 (GRCm38)	L110I	probably damaging	Het
Dusp11	T	C	6: 85,958,669 (GRCm38)	D74G	probably damaging	Het
Eif3m	T	C	2: 105,006,796 (GRCm38)	T61A	probably damaging	Het
Esyt1	T	A	10: 128,522,104 (GRCm38)	D212V	probably damaging	Het
Exoc4	T	A	6: 33,347,825 (GRCm38)	N351K	possibly damaging	Het
F13a1	A	T	13: 36,988,857 (GRCm38)	I183N	probably damaging	Het
Fam83f	T	G	15: 80,692,267 (GRCm38)	V373G	possibly damaging	Het
Fam83h	A	T	15: 76,002,297 (GRCm38)	Y1064N	probably damaging	Het
Flrt3	G	T	2: 140,661,503 (GRCm38)	N68K	probably damaging	Het
Fut7	C	A	2: 25,425,331 (GRCm38)	Y153*	probably null	Het
Gm10277	TC	T	11: 77,786,002 (GRCm38)		probably null	Het
Gm1527	T	C	3: 28,917,949 (GRCm38)	L405P	probably benign	Het
Gm4981	T	C	10: 58,236,251 (GRCm38)	D47G	possibly damaging	Het
Heatr6	T	A	11: 83,757,455 (GRCm38)		probably benign	Het
Herc2	T	C	7: 56,185,828 (GRCm38)		probably benign	Het
Ints14	T	G	9: 64,979,795 (GRCm38)	L336R	probably damaging	Het
Irak1	G	T	X: 74,022,612 (GRCm38)	P197Q	possibly damaging	Het
Kat7	C	T	11: 95,303,294 (GRCm38)	R60Q	probably benign	Het
Katnal2	T	C	18: 76,980,091 (GRCm38)	R385G	probably damaging	Het
Kcnt2	G	T	1: 140,552,963 (GRCm38)	L755F	probably damaging	Het
Kif4	A	G	X: 100,665,717 (GRCm38)	S315G	probably benign	Het
Kifc3	A	G	8: 95,108,713 (GRCm38)	Y178H	probably damaging	Het
Krit1	A	T	5: 3,822,108 (GRCm38)	R378*	probably null	Het
L3mbtl1	T	A	2: 162,960,070 (GRCm38)		probably null	Het
Lama3	C	A	18: 12,402,849 (GRCm38)	T204N	possibly damaging	Het
Lama5	A	G	2: 180,186,885 (GRCm38)	C2090R	probably damaging	Het
Mb	G	T	15: 77,022,559 (GRCm38)	Q9K	probably benign	Het
Mipep	T	C	14: 60,787,380 (GRCm38)	V90A	probably damaging	Het
Myo3a	A	T	2: 22,245,531 (GRCm38)	I70F	probably damaging	Het
Napa	A	G	7: 16,114,209 (GRCm38)	D217G	possibly damaging	Het
Nectin2	T	C	7: 19,717,564 (GRCm38)	D515G	probably damaging	Het
Nkx2-6	T	A	14: 69,171,839 (GRCm38)	V13E	probably damaging	Het
Nmi	T	C	2: 51,948,707 (GRCm38)	T272A	probably benign	Het
Nptx2	G	C	5: 144,555,406 (GRCm38)	G331A	probably damaging	Het
Olfr1228	T	C	2: 89,249,530 (GRCm38)	I55V	probably damaging	Het
Olfr183	T	C	16: 59,000,420 (GRCm38)	L245P	possibly damaging	Het
Olfr450	A	G	6: 42,817,497 (GRCm38)	T9A	possibly damaging	Het
Olfr854	T	C	9: 19,567,322 (GRCm38)	T18A	probably benign	Het
Parp14	T	C	16: 35,858,534 (GRCm38)	T355A	probably benign	Het
Pcdh12	T	C	18: 38,283,986 (GRCm38)	T29A	probably damaging	Het
Pced1b	T	A	15: 97,384,624 (GRCm38)	C181*	probably null	Het
Phka1	C	T	X: 102,610,201 (GRCm38)	R290H	probably damaging	Het
Pick1	T	A	15: 79,255,581 (GRCm38)		probably benign	Het
Pitrm1	A	T	13: 6,557,773 (GRCm38)	Y268F	probably damaging	Het
Polr2h	T	C	16: 20,718,987 (GRCm38)		probably benign	Het
Ppfia2	A	T	10: 106,762,111 (GRCm38)	K178N	probably damaging	Het
Prkag1	T	C	15: 98,814,552 (GRCm38)	Y133C	probably damaging	Het
Ptk2	A	G	15: 73,242,406 (GRCm38)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,539,735 (GRCm38)	R372L	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Qrich2	A	G	11: 116,447,156 (GRCm38)	V1887A	probably damaging	Het
Ralgapa1	T	C	12: 55,786,349 (GRCm38)		probably null	Het
Rassf9	A	G	10: 102,544,945 (GRCm38)	T63A	probably benign	Het
Rdh11	G	T	12: 79,176,222 (GRCm38)	Q292K	probably benign	Het
Rere	C	A	4: 150,612,561 (GRCm38)		probably benign	Het
Rgs18	G	T	1: 144,753,891 (GRCm38)	T210K	possibly damaging	Het
Rnf213	A	G	11: 119,428,013 (GRCm38)	N1099S	probably benign	Het
Ros1	T	C	10: 52,128,555 (GRCm38)	I969V	probably benign	Het
Rrh	T	C	3: 129,810,687 (GRCm38)	I288M	probably damaging	Het
Rrp12	C	T	19: 41,891,094 (GRCm38)	V174I	probably benign	Het
Rtf1	T	A	2: 119,705,518 (GRCm38)	H184Q	probably benign	Het
Sbk3	A	G	7: 4,967,416 (GRCm38)	L318S	possibly damaging	Het
Scn9a	T	C	2: 66,484,052 (GRCm38)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,800,649 (GRCm38)	T9S	probably benign	Het
Sec23ip	G	A	7: 128,762,461 (GRCm38)	V488I	probably benign	Het
Serpine3	T	C	14: 62,673,010 (GRCm38)	L184P	probably damaging	Het
Slc26a2	T	C	18: 61,198,824 (GRCm38)	T512A	possibly damaging	Het
Smpd4	T	C	16: 17,626,865 (GRCm38)	Y118H	probably benign	Het
Tcof1	T	C	18: 60,832,785 (GRCm38)	E415G	possibly damaging	Het
Ttc33	G	A	15: 5,212,053 (GRCm38)	V120I	probably benign	Het
Utp20	T	C	10: 88,786,003 (GRCm38)	D1136G	probably benign	Het
Vgll1	A	C	X: 57,092,430 (GRCm38)	K53T	probably damaging	Het
Yars	T	G	4: 129,207,923 (GRCm38)		probably null	Het
Zfp472	A	G	17: 32,978,014 (GRCm38)	I354M	possibly damaging	Het
Zfp786	A	G	6: 47,826,997 (GRCm38)	V37A	probably damaging	Het

Other mutations in Usp20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Usp20	APN	2	31,004,950 (GRCm38)	missense	probably damaging	1.00
IGL01444:Usp20	APN	2	30,998,789 (GRCm38)	start codon destroyed	probably null	1.00
IGL01601:Usp20	APN	2	31,011,794 (GRCm38)	missense	probably benign	0.04
IGL01785:Usp20	APN	2	31,017,163 (GRCm38)	missense	probably benign	0.02
IGL01786:Usp20	APN	2	31,017,163 (GRCm38)	missense	probably benign	0.02
IGL02129:Usp20	APN	2	31,004,450 (GRCm38)	missense	probably benign	0.43
IGL02147:Usp20	APN	2	31,006,401 (GRCm38)	missense	probably damaging	1.00
IGL03396:Usp20	APN	2	31,011,717 (GRCm38)	missense	probably benign
BB007:Usp20	UTSW	2	31,010,544 (GRCm38)	missense	probably benign	0.21
BB017:Usp20	UTSW	2	31,010,544 (GRCm38)	missense	probably benign	0.21
PIT4453001:Usp20	UTSW	2	31,017,486 (GRCm38)	missense	possibly damaging	0.47
R0111:Usp20	UTSW	2	31,002,612 (GRCm38)	missense	probably damaging	1.00
R0369:Usp20	UTSW	2	31,011,104 (GRCm38)	missense	probably benign	0.00
R0479:Usp20	UTSW	2	31,017,475 (GRCm38)	missense	probably benign	0.18
R0538:Usp20	UTSW	2	31,004,450 (GRCm38)	missense	probably damaging	0.99
R1023:Usp20	UTSW	2	31,007,813 (GRCm38)	missense	probably damaging	1.00
R1183:Usp20	UTSW	2	31,011,785 (GRCm38)	missense	probably benign	0.17
R1635:Usp20	UTSW	2	31,018,818 (GRCm38)	missense	probably benign	0.03
R2114:Usp20	UTSW	2	31,016,305 (GRCm38)	missense	probably damaging	1.00
R2116:Usp20	UTSW	2	31,016,305 (GRCm38)	missense	probably damaging	1.00
R2117:Usp20	UTSW	2	31,016,305 (GRCm38)	missense	probably damaging	1.00
R2232:Usp20	UTSW	2	31,018,738 (GRCm38)	missense	probably benign	0.13
R2244:Usp20	UTSW	2	31,010,331 (GRCm38)	missense	possibly damaging	0.65
R2883:Usp20	UTSW	2	31,018,800 (GRCm38)	missense	probably benign
R4734:Usp20	UTSW	2	31,019,824 (GRCm38)	missense	probably benign	0.31
R5507:Usp20	UTSW	2	31,010,226 (GRCm38)	missense	probably benign
R5770:Usp20	UTSW	2	31,017,508 (GRCm38)	missense	probably damaging	1.00
R5862:Usp20	UTSW	2	31,006,449 (GRCm38)	nonsense	probably null
R6315:Usp20	UTSW	2	31,017,758 (GRCm38)	missense	possibly damaging	0.70
R7603:Usp20	UTSW	2	31,011,474 (GRCm38)	missense	probably damaging	1.00
R7887:Usp20	UTSW	2	31,020,894 (GRCm38)	missense	probably benign	0.34
R7930:Usp20	UTSW	2	31,010,544 (GRCm38)	missense	probably benign	0.21
R8542:Usp20	UTSW	2	31,011,624 (GRCm38)	missense	possibly damaging	0.94
R8965:Usp20	UTSW	2	31,011,785 (GRCm38)	missense	possibly damaging	0.77
R9079:Usp20	UTSW	2	31,005,108 (GRCm38)	intron	probably benign
R9226:Usp20	UTSW	2	31,017,400 (GRCm38)	missense	probably damaging	0.99
R9417:Usp20	UTSW	2	30,983,018 (GRCm38)	critical splice acceptor site	probably null
R9459:Usp20	UTSW	2	31,011,012 (GRCm38)	missense	probably damaging	0.99
Z1176:Usp20	UTSW	2	31,019,818 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGTGCTTCTAGGGTCAAATAGTC -3'
(R):5'- GTACTTCACGCCATTCCGAAG -3'

Sequencing Primer
(F):5'- TCTAGGGTCAAATAGTCTGTTTTTG -3'
(R):5'- GCCATTCCGAAGCCTACG -3'

Posted On

2014-09-18