Mutagenetix > Incidental Mutation

Incidental Mutation 'R9417:Usp20'

712082

Institutional Source

Beutler Lab

Gene Symbol

Usp20

Ensembl Gene

ENSMUSG00000026854

Gene Name

ubiquitin specific peptidase 20

Synonyms

Vdu2, 1700055M05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9417 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30872291-30912667 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 30873030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028205] [ENSMUST00000061544] [ENSMUST00000102849] [ENSMUST00000138161] [ENSMUST00000142232]

AlphaFold

Q8C6M1

Predicted Effect

probably benign
Transcript: ENSMUST00000028205

SMART Domains

Protein: ENSMUSP00000028205
Gene: ENSMUSG00000026851

Domain	Start	End	E-Value	Type
coiled coil region	10	37	N/A	INTRINSIC
Pfam:Hep_59	101	197	3e-34	PFAM

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

SMART Domains

Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854

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: 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 null
Transcript: ENSMUST00000142232

SMART Domains

Protein: ENSMUSP00000115347
Gene: ENSMUSG00000026854

Domain	Start	End	E-Value	Type
PDB:2UZG\|A	70	99	5e-8	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	G	4: 88,786,202 (GRCm39)	Y139H	unknown	Het
Akr1b10	T	C	6: 34,371,027 (GRCm39)	V259A	probably benign	Het
Aldh5a1	A	T	13: 25,095,673 (GRCm39)	N481K	probably damaging	Het
Ankrd26	A	T	6: 118,504,725 (GRCm39)	M728K	possibly damaging	Het
Asic1	A	G	15: 99,590,405 (GRCm39)	M52V	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cacna2d2	C	A	9: 107,392,689 (GRCm39)	Y544*	probably null	Het
Cdcp3	A	G	7: 130,852,218 (GRCm39)	D818G	possibly damaging	Het
Chd4	A	G	6: 125,097,688 (GRCm39)	N1403S	probably damaging	Het
Cldn4	G	T	5: 134,975,174 (GRCm39)	N142K	probably benign	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Dll1	T	C	17: 15,593,710 (GRCm39)	Y219C	probably damaging	Het
Dnah2	T	A	11: 69,326,990 (GRCm39)	I3539F	probably damaging	Het
Egfr	T	A	11: 16,825,067 (GRCm39)	L469*	probably null	Het
Elmo1	A	G	13: 20,756,573 (GRCm39)	N554D	possibly damaging	Het
Fam234a	A	C	17: 26,435,225 (GRCm39)	F306L	probably benign	Het
Fbl	G	A	7: 27,874,052 (GRCm39)	G45D	unknown	Het
Fbxw10	C	A	11: 62,753,522 (GRCm39)	C505*	probably null	Het
Ftcd	G	A	10: 76,417,153 (GRCm39)	G221S	probably damaging	Het
Gad1	A	G	2: 70,417,716 (GRCm39)	D305G	possibly damaging	Het
Gdpd4	A	G	7: 97,607,074 (GRCm39)	D16G	probably benign	Het
Gsdmc3	T	A	15: 63,738,663 (GRCm39)	D133V	possibly damaging	Het
Hpdl	T	C	4: 116,677,817 (GRCm39)	T215A	possibly damaging	Het
Ift56	T	C	6: 38,386,386 (GRCm39)	F369S	probably damaging	Het
Igsf10	A	T	3: 59,236,526 (GRCm39)	N1218K	possibly damaging	Het
Isg20	C	T	7: 78,569,605 (GRCm39)	P192L	probably benign	Het
Itga7	C	T	10: 128,793,543 (GRCm39)	T126M	unknown	Het
Krr1	A	G	10: 111,813,026 (GRCm39)	I134V	probably benign	Het
Krt71	T	A	15: 101,646,731 (GRCm39)	T326S	probably benign	Het
Lamb1	T	A	12: 31,337,983 (GRCm39)	V480E	probably damaging	Het
Mmp19	T	A	10: 128,630,523 (GRCm39)	L102Q	possibly damaging	Het
Mtor	T	A	4: 148,622,776 (GRCm39)	L1952*	probably null	Het
Myo15a	T	A	11: 60,378,243 (GRCm39)	V215E		Het
Nfs1	T	A	2: 155,965,851 (GRCm39)	K77*	probably null	Het
Or52s1	A	T	7: 102,861,156 (GRCm39)	I30F	possibly damaging	Het
Or9a4	T	A	6: 40,549,096 (GRCm39)	Y259N		Het
Pcdhga4	T	C	18: 37,820,560 (GRCm39)	F703S	probably damaging	Het
Pdzd7	A	G	19: 45,034,022 (GRCm39)	S21P	probably damaging	Het
Pitrm1	A	T	13: 6,617,394 (GRCm39)	I583F	possibly damaging	Het
Ppox	A	G	1: 171,107,855 (GRCm39)	L77P	unknown	Het
Ppp1r37	G	T	7: 19,269,658 (GRCm39)	R114S	probably damaging	Het
Ppp4r3b	T	C	11: 29,144,598 (GRCm39)	V316A	probably benign	Het
Ptprd	A	G	4: 75,865,335 (GRCm39)	I1214T	probably damaging	Het
Rasal3	A	G	17: 32,615,441 (GRCm39)	F466L	probably benign	Het
Ric8b	A	T	10: 84,761,447 (GRCm39)	D41V	probably benign	Het
Rin2	T	C	2: 145,686,713 (GRCm39)	S81P	probably benign	Het
Sft2d1	T	A	17: 8,542,139 (GRCm39)	C128S	probably damaging	Het
Skint1	T	C	4: 111,878,509 (GRCm39)	V147A	probably benign	Het
Slc9c1	T	C	16: 45,413,848 (GRCm39)	V992A	probably benign	Het
Sst	A	G	16: 23,708,487 (GRCm39)	S115P	probably damaging	Het
Sv2b	G	T	7: 74,769,772 (GRCm39)	S590Y	probably damaging	Het
Syne1	C	T	10: 5,082,021 (GRCm39)	V868I	probably benign	Het
Tex35	T	C	1: 156,934,789 (GRCm39)	I42V	possibly damaging	Het
Tlr2	T	C	3: 83,744,892 (GRCm39)	N397S	probably damaging	Het
Tmem202	A	G	9: 59,431,999 (GRCm39)		probably null	Het
Usp32	C	T	11: 84,885,369 (GRCm39)	R1226Q	probably damaging	Het
Usp47	C	T	7: 111,688,801 (GRCm39)	A736V	possibly damaging	Het
Vmn2r-ps117	T	A	17: 19,044,037 (GRCm39)	L371*	probably null	Het
Wwp1	T	A	4: 19,662,215 (GRCm39)	N127Y	possibly damaging	Het
Yae1d1	A	T	13: 18,167,770 (GRCm39)	V41D	probably damaging	Het
Zbtb8b	T	C	4: 129,326,517 (GRCm39)	D216G	probably benign	Het
Zfp462	T	C	4: 55,016,988 (GRCm39)	S903P	probably benign	Het
Zranb1	G	A	7: 132,585,466 (GRCm39)	G638D	probably damaging	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
R0538:Usp20	UTSW	2	30,894,462 (GRCm39)	missense	probably damaging	0.99
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
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'- CTTTGAGAGCTTGGGAGGACTC -3'
(R):5'- ACACCCTGCAGCTGTGAAAG -3'

Sequencing Primer
(F):5'- AGGACTGTCGCTCTGCCATAAG -3'
(R):5'- TGTGAAAGCTCTGTCCCCAAC -3'

Posted On

2022-05-16