Mutagenetix > Incidental Mutation

Incidental Mutation 'R5770:Usp20'

446474

Institutional Source

Beutler Lab

Gene Symbol

Usp20

Ensembl Gene

ENSMUSG00000026854

Gene Name

ubiquitin specific peptidase 20

Synonyms

1700055M05Rik, Vdu2

MMRRC Submission

043370-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30982279-31023586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31017508 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 684 (Y684C)

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: Y684C

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

SMART Domains

Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: Y684C

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: Y684C

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

SMART Domains

Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: Y684C

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

0.9528

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

93% (64/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	T	C	12: 20,815,459 (GRCm38)		noncoding transcript	Het
Abhd8	A	G	8: 71,457,328 (GRCm38)	V392A	probably benign	Het
AI481877	T	C	4: 59,092,466 (GRCm38)	I238M	probably benign	Het
Alpk3	A	G	7: 81,078,562 (GRCm38)	E480G	probably benign	Het
Ankfy1	C	G	11: 72,760,256 (GRCm38)	H1011D	probably damaging	Het
Aoc3	T	G	11: 101,331,752 (GRCm38)	Y271*	probably null	Het
Bcl9	T	C	3: 97,215,175 (GRCm38)	I103V	probably benign	Het
Cgnl1	C	T	9: 71,645,487 (GRCm38)		probably null	Het
Cyp2c23	T	A	19: 44,021,579 (GRCm38)	D109V	probably damaging	Het
Cyp2j13	A	T	4: 96,077,432 (GRCm38)	W13R	probably benign	Het
D630003M21Rik	T	C	2: 158,195,580 (GRCm38)		probably benign	Het
Desi2	A	T	1: 178,256,495 (GRCm38)		probably benign	Het
Dll3	T	C	7: 28,299,009 (GRCm38)	E177G	possibly damaging	Het
Ern2	C	T	7: 122,179,907 (GRCm38)	G238D	possibly damaging	Het
Gm11595	G	A	11: 99,772,555 (GRCm38)	R100C	unknown	Het
Gm6133	A	G	18: 78,350,249 (GRCm38)	K153E	probably benign	Het
Gpr68	A	T	12: 100,878,821 (GRCm38)	Y155N	probably benign	Het
Hcrtr2	T	A	9: 76,259,666 (GRCm38)	I130F	probably damaging	Het
Hk1	T	C	10: 62,286,449 (GRCm38)	K489R	probably benign	Het
Ints13	T	C	6: 146,555,073 (GRCm38)	N425S	probably damaging	Het
Itpkc	T	C	7: 27,212,988 (GRCm38)	D578G	probably damaging	Het
Kcns3	A	G	12: 11,092,249 (GRCm38)	S150P	probably benign	Het
Khdrbs3	T	A	15: 69,049,463 (GRCm38)		probably null	Het
Kif11	A	G	19: 37,390,865 (GRCm38)	I335V	probably benign	Het
Lrrn4	C	G	2: 132,872,156 (GRCm38)	C290S	probably damaging	Het
Macrod2	T	C	2: 141,232,182 (GRCm38)		probably benign	Het
Mgam	A	G	6: 40,669,804 (GRCm38)	N688S	probably benign	Het
Myh8	G	A	11: 67,297,200 (GRCm38)	E933K	probably damaging	Het
Nat8f5	T	C	6: 85,817,675 (GRCm38)	Y101C	probably damaging	Het
Nhlrc1	A	G	13: 47,014,712 (GRCm38)	V23A	probably benign	Het
Nkx2-3	T	A	19: 43,614,533 (GRCm38)	F193I	probably damaging	Het
Nlrp4b	T	A	7: 10,715,487 (GRCm38)	V172E	probably benign	Het
Nmrk1	G	T	19: 18,645,074 (GRCm38)	R172S	probably benign	Het
Nudcd3	T	C	11: 6,113,286 (GRCm38)	D201G	probably damaging	Het
Olfr1255	T	A	2: 89,816,549 (GRCm38)	D68E	probably damaging	Het
Olfr1384	A	G	11: 49,514,592 (GRCm38)	E318G	unknown	Het
Olfr205	A	T	16: 59,329,151 (GRCm38)	Y119*	probably null	Het
Olfr314	G	A	11: 58,786,594 (GRCm38)	R120H	probably benign	Het
Olfr46	A	G	7: 140,610,943 (GRCm38)	Y259C	probably damaging	Het
Olfr679	A	T	7: 105,090,895 (GRCm38)	I248N	probably damaging	Het
Olfr980	C	T	9: 40,006,338 (GRCm38)	V204I	probably benign	Het
Oprm1	G	A	10: 6,789,026 (GRCm38)	G51D	probably damaging	Het
Pcdh15	T	A	10: 74,185,345 (GRCm38)	Y130*	probably null	Het
Pcdh9	G	A	14: 93,886,943 (GRCm38)	T597I	probably damaging	Het
Pcdhb19	A	G	18: 37,498,037 (GRCm38)	N295S	possibly damaging	Het
Pcnx3	T	C	19: 5,681,579 (GRCm38)		probably benign	Het
Pdzph1	A	T	17: 58,879,151 (GRCm38)	I1215N	probably damaging	Het
Phf21a	C	T	2: 92,351,854 (GRCm38)	T405I	possibly damaging	Het
Pkd1l2	C	A	8: 117,055,018 (GRCm38)	G763W	probably damaging	Het
Prox2	A	G	12: 85,087,380 (GRCm38)	F591L	probably benign	Het
Robo3	T	A	9: 37,419,201 (GRCm38)	H1033L	possibly damaging	Het
Sdha	A	T	13: 74,323,120 (GRCm38)	C222*	probably null	Het
Sec16a	T	C	2: 26,414,390 (GRCm38)	D2303G	probably damaging	Het
Slc16a5	A	G	11: 115,472,778 (GRCm38)	K422E	possibly damaging	Het
Slc22a30	A	T	19: 8,386,527 (GRCm38)	M232K	probably damaging	Het
Slc35b3	A	T	13: 38,937,758 (GRCm38)	F300I	probably damaging	Het
Spata2l	A	G	8: 123,235,720 (GRCm38)	V34A	probably damaging	Het
Susd2	C	T	10: 75,638,019 (GRCm38)	A581T	probably damaging	Het
Tecta	T	A	9: 42,345,589 (GRCm38)	Q1597L	possibly damaging	Het
Tgfb1i1	A	T	7: 128,248,547 (GRCm38)		probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,270,629 (GRCm38)		probably null	Het
Tpm3-rs7	A	G	14: 113,315,375 (GRCm38)	T234A	probably benign	Het
Zc3h4	T	A	7: 16,429,611 (GRCm38)	M585K	unknown	Het
Zfp292	A	G	4: 34,806,747 (GRCm38)	I2099T	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
R2115: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
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'- TTTTCTGGCCAAGGAGTGC -3'
(R):5'- TCACTGCTCTTCCTGGGATG -3'

Sequencing Primer
(F):5'- GTCATCTGTCACCATGGCAC -3'
(R):5'- CTCTTCCTGGGATGGAGGG -3'

Posted On

2016-11-21