Mutagenetix > Incidental Mutation

Incidental Mutation 'R2116:Usp20'

233104

Institutional Source

Beutler Lab

Gene Symbol

Usp20

Ensembl Gene

ENSMUSG00000026854

Gene Name

ubiquitin specific peptidase 20

Synonyms

1700055M05Rik, Vdu2

MMRRC Submission

040120-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2116 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	T	6: 96,164,860 (GRCm38)	V401E	probably damaging	Het
4833427G06Rik	A	G	9: 51,101,084 (GRCm38)	S79P	possibly damaging	Het
Adamts20	A	G	15: 94,355,362 (GRCm38)	C377R	probably damaging	Het
Adgrv1	T	C	13: 81,529,013 (GRCm38)	K1180E	probably benign	Het
Ankle1	A	G	8: 71,407,918 (GRCm38)	T340A	probably benign	Het
Armc2	A	T	10: 41,963,667 (GRCm38)	L434Q	probably damaging	Het
Ash1l	C	T	3: 88,983,264 (GRCm38)	L817F	probably benign	Het
Atm	C	T	9: 53,500,969 (GRCm38)	E960K	probably benign	Het
Bend5	G	T	4: 111,415,239 (GRCm38)	R22L	probably benign	Het
Cacng6	C	T	7: 3,430,504 (GRCm38)	T133I	probably damaging	Het
Cep120	G	A	18: 53,740,136 (GRCm38)	T41I	probably damaging	Het
Ciz1	T	C	2: 32,367,465 (GRCm38)	L174P	probably damaging	Het
Cmah	G	A	13: 24,428,897 (GRCm38)	D26N	probably benign	Het
Cnot1	A	C	8: 95,726,153 (GRCm38)	D2098E	probably damaging	Het
Cnot10	A	C	9: 114,626,436 (GRCm38)	S207R	probably damaging	Het
Col14a1	A	G	15: 55,407,764 (GRCm38)	T638A	unknown	Het
Coro1a	T	C	7: 126,702,022 (GRCm38)	E102G	probably damaging	Het
Ddx27	A	C	2: 167,027,764 (GRCm38)	D373A	probably benign	Het
Defb38	A	T	8: 19,023,467 (GRCm38)	Y63*	probably null	Het
Dhx37	A	G	5: 125,421,102 (GRCm38)	V681A	probably damaging	Het
Dmxl1	T	A	18: 49,878,817 (GRCm38)	L1347H	probably damaging	Het
Dnmt3l	C	A	10: 78,063,296 (GRCm38)	L110I	probably damaging	Het
Gcn1l1	A	T	5: 115,598,825 (GRCm38)	M1276L	probably benign	Het
Gm10277	TC	T	11: 77,786,002 (GRCm38)		probably null	Het
Gm12790	G	A	4: 101,967,651 (GRCm38)	T140I	possibly damaging	Het
Golga3	A	T	5: 110,187,395 (GRCm38)	M192L	probably damaging	Het
H2-T22	A	T	17: 36,039,057 (GRCm38)		probably null	Het
Hectd2	C	A	19: 36,614,424 (GRCm38)	T675K	probably damaging	Het
Hinfp	T	C	9: 44,299,615 (GRCm38)	N116S	probably damaging	Het
Hs6st3	T	A	14: 119,869,287 (GRCm38)	L369Q	probably damaging	Het
Ift74	A	G	4: 94,627,259 (GRCm38)	T138A	probably benign	Het
Ipo7	T	A	7: 110,051,118 (GRCm38)	Y792N	probably damaging	Het
Jak1	A	T	4: 101,179,675 (GRCm38)	I256N	probably damaging	Het
Kcnd2	T	A	6: 21,216,432 (GRCm38)	L45Q	probably damaging	Het
Klhl3	A	T	13: 58,018,991 (GRCm38)	V342E	probably damaging	Het
Krt28	A	C	11: 99,365,117 (GRCm38)	S439A	probably benign	Het
L3mbtl1	T	A	2: 162,960,070 (GRCm38)		probably null	Het
Lrch1	G	A	14: 74,785,531 (GRCm38)	P634L	probably damaging	Het
Lrp1	C	T	10: 127,576,493 (GRCm38)	W1314*	probably null	Het
Lrwd1	T	A	5: 136,130,478 (GRCm38)	Y431F	probably damaging	Het
Lyst	A	G	13: 13,635,701 (GRCm38)	E652G	probably damaging	Het
Mageb3	A	G	2: 121,954,552 (GRCm38)	V223A	probably damaging	Het
Map1b	G	T	13: 99,430,644 (GRCm38)	S1856R	unknown	Het
Mecom	T	A	3: 29,965,458 (GRCm38)	Q759L	probably damaging	Het
Mfsd6	T	A	1: 52,660,975 (GRCm38)	R671S	probably benign	Het
Mllt10	A	G	2: 18,162,569 (GRCm38)	N435S	probably benign	Het
Mta2	T	C	19: 8,943,516 (GRCm38)	I27T	probably damaging	Het
Ndufab1	A	G	7: 122,101,764 (GRCm38)	L20P	probably benign	Het
Nfatc2ip	T	A	7: 126,385,108 (GRCm38)	Y371F	probably damaging	Het
Nhlrc1	A	C	13: 47,014,185 (GRCm38)	S199A	probably benign	Het
Nipa1	G	T	7: 55,985,525 (GRCm38)	N113K	possibly damaging	Het
Nlgn1	T	A	3: 26,133,265 (GRCm38)	N157I	probably damaging	Het
Nlrp1a	T	A	11: 71,114,500 (GRCm38)	K630*	probably null	Het
Nmi	T	C	2: 51,948,707 (GRCm38)	T272A	probably benign	Het
Nr1i3	T	A	1: 171,218,594 (GRCm38)	L181Q	probably damaging	Het
Nrxn1	A	T	17: 90,704,277 (GRCm38)	I308K	probably damaging	Het
Olfr1043	A	T	2: 86,162,729 (GRCm38)	Y73*	probably null	Het
Olfr150	T	A	9: 39,737,304 (GRCm38)	M163K	probably damaging	Het
Olfr294	T	C	7: 86,616,078 (GRCm38)	D189G	probably benign	Het
Olfr625-ps1	T	C	7: 103,683,312 (GRCm38)	I188T	probably damaging	Het
Osgin2	G	A	4: 16,008,648 (GRCm38)	T51M	probably damaging	Het
Pkd1l2	T	A	8: 117,030,722 (GRCm38)	T1526S	possibly damaging	Het
Pkhd1l1	G	T	15: 44,569,482 (GRCm38)	A3378S	probably damaging	Het
Plg	A	T	17: 12,384,477 (GRCm38)	D90V	probably damaging	Het
Plppr3	A	T	10: 79,865,738 (GRCm38)	D423E	probably benign	Het
Prpf8	T	C	11: 75,487,721 (GRCm38)	V66A	possibly damaging	Het
Psg19	A	T	7: 18,794,255 (GRCm38)	Y188N	probably damaging	Het
Ptgs1	C	A	2: 36,237,696 (GRCm38)	S89*	probably null	Het
Ptx3	T	A	3: 66,224,766 (GRCm38)	I236N	probably damaging	Het
Pygm	A	G	19: 6,386,408 (GRCm38)	N100S	probably damaging	Het
Reps1	A	G	10: 18,124,920 (GRCm38)	E760G	probably damaging	Het
Rgs7	T	A	1: 175,091,073 (GRCm38)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,817,549 (GRCm38)	M629L	probably benign	Het
Rrh	T	C	3: 129,810,687 (GRCm38)	I288M	probably damaging	Het
Sctr	A	T	1: 120,031,582 (GRCm38)	D70V	probably damaging	Het
Sec11c	A	T	18: 65,800,649 (GRCm38)	T9S	probably benign	Het
Spty2d1	C	T	7: 46,996,185 (GRCm38)	G570D	probably damaging	Het
Stx1b	T	C	7: 127,810,905 (GRCm38)	E153G	probably damaging	Het
Synm	G	A	7: 67,733,595 (GRCm38)	R1440W	probably benign	Het
Tcof1	T	C	18: 60,832,785 (GRCm38)	E415G	possibly damaging	Het
Tgfb1i1	G	A	7: 128,252,805 (GRCm38)	R353H	probably damaging	Het
Thbs3	T	C	3: 89,219,392 (GRCm38)	F271S	probably damaging	Het
Tlr5	T	C	1: 182,975,629 (GRCm38)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,622,551 (GRCm38)	E92G	probably damaging	Het
Tmem221	T	C	8: 71,557,828 (GRCm38)	Y133C	probably damaging	Het
Tmem229b-ps	A	G	10: 53,475,456 (GRCm38)		noncoding transcript	Het
Tnxb	T	C	17: 34,672,227 (GRCm38)	C515R	probably damaging	Het
Trp53rka	T	A	2: 165,491,495 (GRCm38)	N158I	probably damaging	Het
Tsta3	A	G	15: 75,926,142 (GRCm38)	F223S	probably damaging	Het
Usp31	C	T	7: 121,648,696 (GRCm38)	V1175M	probably benign	Het
Veph1	G	T	3: 66,057,189 (GRCm38)	N806K	probably benign	Het
Vmn1r223	G	T	13: 23,249,662 (GRCm38)	C142F	probably damaging	Het
Vmn2r80	A	T	10: 79,194,724 (GRCm38)	S795C	probably benign	Het
Wdr41	A	G	13: 95,015,029 (GRCm38)		probably null	Het
Zfp617	A	T	8: 71,932,165 (GRCm38)	H113L	probably benign	Het
Zfp715	T	A	7: 43,297,946 (GRCm38)	R863S	possibly 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
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'- ACTTCACGCCATTCCGAAGC -3'

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

Posted On

2014-09-18