Mutagenetix > Incidental Mutation

Incidental Mutation 'R7930:Usp20'

643506

Institutional Source

Beutler Lab

Gene Symbol

Usp20

Ensembl Gene

ENSMUSG00000026854

Gene Name

ubiquitin specific peptidase 20

Synonyms

1700055M05Rik, Vdu2

MMRRC Submission

045977-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7930 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

30982279-31023586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31010544 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 357 (S357P)

Ref Sequence

ENSEMBL: ENSMUSP00000099913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061544] [ENSMUST00000102849] [ENSMUST00000170476]

AlphaFold

Q8C6M1

Predicted Effect

probably benign
Transcript: ENSMUST00000061544

SMART Domains

Protein: ENSMUSP00000060167
Gene: ENSMUSG00000026854

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 benign
Transcript: ENSMUST00000102849
AA Change: S357P

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: S357P

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: ENSMUST00000136588

SMART Domains

Protein: ENSMUSP00000119197
Gene: ENSMUSG00000026854

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: ENSMUST00000170476
AA Change: S357P

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: S357P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	T	5: 109,675,756 (GRCm38)	C609*	probably null	Het
Adam20	C	T	8: 40,797,070 (GRCm38)	T739I	probably benign	Het
Adam23	G	T	1: 63,585,427 (GRCm38)	V805F	possibly damaging	Het
Adamts17	A	T	7: 66,849,799 (GRCm38)	R31S	probably damaging	Het
Ahnak2	T	C	12: 112,779,125 (GRCm38)	E629G		Het
Ano4	T	A	10: 89,327,276 (GRCm38)	Y27F	possibly damaging	Het
Bbs2	A	G	8: 94,069,997 (GRCm38)	V675A	probably damaging	Het
Brca2	A	G	5: 150,558,510 (GRCm38)	E2839G	probably damaging	Het
C530008M17Rik	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 76,856,954 (GRCm38)		probably benign	Het
Capn5	C	T	7: 98,123,878 (GRCm38)	V640I	probably benign	Het
Casp4	C	T	9: 5,321,318 (GRCm38)	T23M	probably damaging	Het
Cerk	C	T	15: 86,144,719 (GRCm38)	E379K	possibly damaging	Het
Comp	G	A	8: 70,373,853 (GRCm38)	G26D	probably damaging	Het
Cpxm1	G	A	2: 130,395,062 (GRCm38)	A220V	possibly damaging	Het
Cyp2c69	G	T	19: 39,842,990 (GRCm38)	P460T	possibly damaging	Het
Ddx23	T	C	15: 98,648,623 (GRCm38)	D555G	probably damaging	Het
Dusp9	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	X: 73,640,522 (GRCm38)		probably benign	Het
E2f6	T	A	12: 16,819,057 (GRCm38)	I127K	probably damaging	Het
Efr3a	T	A	15: 65,861,740 (GRCm38)	D716E	probably benign	Het
Esp16	T	G	17: 39,539,977 (GRCm38)	S82R	possibly damaging	Het
Fasn	A	C	11: 120,809,235 (GRCm38)	S2199A	probably benign	Het
Fscb	A	G	12: 64,472,563 (GRCm38)	S710P	unknown	Het
Gas7	A	G	11: 67,665,391 (GRCm38)	I185M	probably damaging	Het
Glg1	A	T	8: 111,160,735 (GRCm38)	L1047I	possibly damaging	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,667,034 (GRCm38)		probably benign	Het
Gm7876	A	T	14: 4,711,357 (GRCm38)	I124L	possibly damaging	Het
Golga5	A	G	12: 102,484,422 (GRCm38)	N445D	probably benign	Het
Grin2c	A	T	11: 115,256,237 (GRCm38)	H377Q	probably benign	Het
Hmgcs1	T	C	13: 119,699,963 (GRCm38)	I97T	possibly damaging	Het
Ifi211	T	C	1: 173,906,203 (GRCm38)	T131A	possibly damaging	Het
Ifngr1	A	G	10: 19,609,183 (GRCm38)	K310R	probably damaging	Het
Il18rap	T	C	1: 40,548,643 (GRCm38)	V467A	probably damaging	Het
Itgad	C	A	7: 128,183,108 (GRCm38)	Q239K	probably benign	Het
Jrkl	T	C	9: 13,245,501 (GRCm38)	I52V	possibly damaging	Het
Kdm6b	A	T	11: 69,399,952 (GRCm38)	D1630E	unknown	Het
Krt75	C	A	15: 101,564,883 (GRCm38)	*552L	probably null	Het
Mbd2	A	G	18: 70,568,877 (GRCm38)	D154G	probably damaging	Het
Muc4	C	CTAG	16: 32,754,078 (GRCm38)		probably benign	Het
Mutyh	A	T	4: 116,816,956 (GRCm38)	N235Y	probably benign	Het
Myo5b	A	G	18: 74,731,754 (GRCm38)	T1348A	probably benign	Het
Ndufs7	T	C	10: 80,253,785 (GRCm38)		probably null	Het
Nup205	T	G	6: 35,194,576 (GRCm38)	M458R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266 (GRCm38)		probably benign	Het
Olfr1061	T	A	2: 86,413,216 (GRCm38)	T279S	probably damaging	Het
Olfr1416	T	A	1: 92,479,848 (GRCm38)	M258L	probably benign	Het
Olfr1475	G	A	19: 13,479,655 (GRCm38)	P181L	probably damaging	Het
Olfr350	G	T	2: 36,850,273 (GRCm38)	V76F	probably damaging	Het
Olfr392	A	C	11: 73,815,100 (GRCm38)		probably benign	Het
Olfr521	A	T	7: 99,767,596 (GRCm38)	T145S	probably benign	Het
Olfr888	A	G	9: 38,108,968 (GRCm38)	N89S	possibly damaging	Het
Plcl2	T	G	17: 50,606,803 (GRCm38)	I280S	probably benign	Het
Ppargc1a	A	T	5: 51,472,922 (GRCm38)	Y618N	unknown	Het
Rab43	A	T	6: 87,811,366 (GRCm38)	I60N	probably damaging	Het
Rnf126	A	T	10: 79,760,892 (GRCm38)	C231S	probably damaging	Het
Rnf220	T	A	4: 117,307,590 (GRCm38)	E238D	probably damaging	Het
Scn9a	A	T	2: 66,504,849 (GRCm38)	D1265E	probably damaging	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,804,437 (GRCm38)		probably benign	Het
Sntb2	T	A	8: 107,001,637 (GRCm38)	S406T	probably damaging	Het
Sos1	T	C	17: 80,406,838 (GRCm38)	I1068V	probably benign	Het
Spg20	A	G	3: 55,128,276 (GRCm38)	K519E	probably damaging	Het
Tlx3	A	T	11: 33,203,058 (GRCm38)	F134L	probably damaging	Het
Trbj1-2	A	T	6: 41,534,030 (GRCm38)	T10S		Het
Txk	A	C	5: 72,735,193 (GRCm38)	L33R	probably damaging	Het
Ulk2	A	G	11: 61,791,432 (GRCm38)		probably null	Het
Wac	T	A	18: 7,921,560 (GRCm38)	N565K	possibly damaging	Het
Zfp709	G	T	8: 71,890,840 (GRCm38)	K704N	probably damaging	Het
Zfp788	C	T	7: 41,649,625 (GRCm38)	Q562*	probably null	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
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
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'- TTCTGTCCTGTGACTCGAGC -3'
(R):5'- ATTTCCAACTGAGGCCCAAGAC -3'

Sequencing Primer
(F):5'- TCCTGTGACTCGAGCAGTGAC -3'
(R):5'- CAGCCTGTGAGGAAGGCTTG -3'

Posted On

2020-08-07