Mutagenetix > Incidental Mutation

Incidental Mutation 'R0479:Usp20'

43239

Institutional Source

Beutler Lab

Gene Symbol

Usp20

Ensembl Gene

ENSMUSG00000026854

Gene Name

ubiquitin specific peptidase 20

Synonyms

1700055M05Rik, Vdu2

MMRRC Submission

038679-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0479 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

30982279-31023586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31017475 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 673 (V673E)

Ref Sequence

ENSEMBL: ENSMUSP00000127388 (fasta)

Gene Model

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

AlphaFold

Q8C6M1

Predicted Effect

probably benign
Transcript: ENSMUST00000102849
AA Change: V673E

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854
AA Change: V673E

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 benign
Transcript: ENSMUST00000170476
AA Change: V673E

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127388
Gene: ENSMUSG00000026854
AA Change: V673E

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

0.0693

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

98% (105/107)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,332,145	V269A	probably benign	Het
Acsl1	G	A	8: 46,531,072	G543R	probably damaging	Het
Adam18	T	C	8: 24,651,822	N244D	probably benign	Het
Adgra3	C	T	5: 49,990,265	V478M	probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Arhgef10	A	T	8: 14,991,070	E723V	probably damaging	Het
Arid3a	C	A	10: 79,951,294	N519K	possibly damaging	Het
Atrn	T	A	2: 130,999,165	Y1162*	probably null	Het
Cacng5	T	A	11: 107,877,951	N172Y	probably benign	Het
Cct8	C	T	16: 87,487,706	V198M	probably damaging	Het
Cep192	G	A	18: 67,858,018	S1857N	probably damaging	Het
Cherp	A	T	8: 72,463,147	D657E	possibly damaging	Het
Clca2	T	G	3: 145,090,849	D199A	probably damaging	Het
Cops7b	A	G	1: 86,605,076	T219A	probably benign	Het
Crb1	C	T	1: 139,198,614	M1392I	probably damaging	Het
Csf3r	A	C	4: 126,043,823	E833D	probably damaging	Het
Cutc	A	G	19: 43,768,216	E247G	probably damaging	Het
Cyp2c38	A	G	19: 39,463,005	L17P	probably damaging	Het
D430042O09Rik	T	C	7: 125,843,346	L809S	probably benign	Het
D5Ertd615e	T	A	5: 45,163,454		noncoding transcript	Het
Ddx60	G	T	8: 61,969,657	G643W	probably damaging	Het
Depdc1a	C	T	3: 159,520,860	T268I	probably damaging	Het
Dgke	T	C	11: 89,052,470	E231G	probably benign	Het
Dhrs7b	T	A	11: 60,855,687		probably benign	Het
Dll3	A	G	7: 28,301,549	V27A	probably damaging	Het
Dnmt3c	T	A	2: 153,714,941		probably null	Het
Duox1	T	C	2: 122,346,380	F1461L	probably damaging	Het
Enpep	A	G	3: 129,312,674	V301A	possibly damaging	Het
Eny2	T	A	15: 44,435,604		probably null	Het
Esr1	A	G	10: 4,997,911	D488G	probably damaging	Het
Ets1	A	G	9: 32,730,180	K110E	probably damaging	Het
Eya2	T	A	2: 165,715,956	Y157*	probably null	Het
F830045P16Rik	T	G	2: 129,472,688	D223A	possibly damaging	Het
Fbxo18	A	G	2: 11,758,419	Y475H	probably damaging	Het
Fbxo39	T	C	11: 72,317,593	I257T	probably damaging	Het
Fkbp10	T	C	11: 100,415,914	V23A	probably damaging	Het
Foxp3	A	G	X: 7,587,344	I128V	possibly damaging	Het
Fzd7	T	C	1: 59,483,708	F250S	probably damaging	Het
Gaa	A	G	11: 119,281,236	T722A	possibly damaging	Het
Gemin5	A	G	11: 58,139,551	V816A	probably benign	Het
Glb1l3	T	A	9: 26,829,093	T314S	probably benign	Het
H2-Ab1	A	G	17: 34,264,968	E101G	possibly damaging	Het
Hydin	A	C	8: 110,599,088	T4710P	probably damaging	Het
Ica1	C	T	6: 8,754,627	V48M	probably damaging	Het
Ica1	T	C	6: 8,754,683	Y29C	probably damaging	Het
Ints7	T	A	1: 191,614,554		probably null	Het
Iqub	T	C	6: 24,505,810	E33G	probably benign	Het
Itgb1bp2	T	A	X: 101,449,200	C10S	probably damaging	Het
Kcnd1	T	A	X: 7,831,222	I391N	possibly damaging	Het
Kdm8	T	C	7: 125,452,640	L135P	probably damaging	Het
Ksr1	T	C	11: 79,025,283	D574G	probably damaging	Het
Lama5	C	T	2: 180,184,457	R2331H	probably benign	Het
Larp1	C	A	11: 58,042,820	N357K	possibly damaging	Het
Lgi3	C	T	14: 70,534,552		probably benign	Het
Lmbrd1	T	A	1: 24,746,797		probably benign	Het
Methig1	A	T	15: 100,374,944	K53*	probably null	Het
Mfap3	T	A	11: 57,529,643	I150N	probably damaging	Het
Mug1	A	T	6: 121,840,227	Q85L	probably benign	Het
Npl	A	G	1: 153,515,409	V200A	probably damaging	Het
Nuf2	A	T	1: 169,498,934		probably benign	Het
Obscn	A	G	11: 59,112,707	V1255A	probably damaging	Het
Olfr186	C	T	16: 59,027,128	V260M	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr916	T	C	9: 38,658,182	D70G	probably damaging	Het
P2rx1	T	C	11: 73,012,961	V283A	probably damaging	Het
Pex2	C	A	3: 5,561,295	L151F	probably damaging	Het
Pias1	A	G	9: 62,893,118		probably benign	Het
Pmfbp1	A	T	8: 109,530,473		probably benign	Het
Pogz	A	G	3: 94,876,636	K545E	possibly damaging	Het
Ppp3cb	T	C	14: 20,503,241		probably null	Het
Prl	G	A	13: 27,064,928	D189N	probably damaging	Het
Prpf6	A	G	2: 181,651,127	N794S	probably benign	Het
Prr36	G	A	8: 4,213,930	Q579*	probably null	Het
Ptprq	A	T	10: 107,643,994	Y1138*	probably null	Het
Rabepk	A	T	2: 34,785,580	H179Q	probably damaging	Het
Rest	T	C	5: 77,282,751	S1006P	probably damaging	Het
Rimklb	A	C	6: 122,464,216		probably benign	Het
Rnpepl1	T	C	1: 92,918,865		probably benign	Het
Sacs	T	A	14: 61,191,479	L329Q	probably damaging	Het
Safb	C	T	17: 56,606,025	R914C	probably damaging	Het
Setd5	A	T	6: 113,115,033	I272F	probably damaging	Het
Sgk1	G	T	10: 21,996,310	A262S	probably benign	Het
Skint2	G	A	4: 112,624,041	V34I	possibly damaging	Het
Skint5	G	C	4: 113,655,672	Q888E	unknown	Het
Slc4a3	T	C	1: 75,551,828		probably benign	Het
Sox10	T	C	15: 79,163,319	E133G	probably damaging	Het
Spryd3	G	A	15: 102,130,400	R129*	probably null	Het
Stag1	T	A	9: 100,928,091	N782K	probably benign	Het
Stam	T	C	2: 14,117,495	L132P	probably damaging	Het
Stard9	T	A	2: 120,697,596	S1445T	probably damaging	Het
Syt5	C	T	7: 4,543,109	R94Q	probably benign	Het
Tbc1d23	A	T	16: 57,171,814	H594Q	probably damaging	Het
Tecta	T	A	9: 42,337,939	I1871F	probably damaging	Het
Tek	A	G	4: 94,804,312	D219G	probably benign	Het
Thrb	T	C	14: 18,033,643	F469L	probably damaging	Het
Trove2	A	T	1: 143,757,751	D536E	possibly damaging	Het
Tyr	T	C	7: 87,493,221	S44G	possibly damaging	Het
Usp28	T	C	9: 49,037,213	S873P	probably damaging	Het
Usp43	C	T	11: 67,897,274	V306M	possibly damaging	Het
Wdr17	G	T	8: 54,651,421		probably null	Het
Wsb2	T	G	5: 117,376,679		probably benign	Het
Xkrx	A	T	X: 134,150,966	L312Q	probably damaging	Het

Other mutations in Usp20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Usp20	APN	2	31004950	missense	probably damaging	1.00
IGL01444:Usp20	APN	2	30998789	start codon destroyed	probably null	1.00
IGL01601:Usp20	APN	2	31011794	missense	probably benign	0.04
IGL01785:Usp20	APN	2	31017163	missense	probably benign	0.02
IGL01786:Usp20	APN	2	31017163	missense	probably benign	0.02
IGL02129:Usp20	APN	2	31004450	missense	probably benign	0.43
IGL02147:Usp20	APN	2	31006401	missense	probably damaging	1.00
IGL03396:Usp20	APN	2	31011717	missense	probably benign
BB007:Usp20	UTSW	2	31010544	missense	probably benign	0.21
BB017:Usp20	UTSW	2	31010544	missense	probably benign	0.21
PIT4453001:Usp20	UTSW	2	31017486	missense	possibly damaging	0.47
R0111:Usp20	UTSW	2	31002612	missense	probably damaging	1.00
R0369:Usp20	UTSW	2	31011104	missense	probably benign	0.00
R0538:Usp20	UTSW	2	31004450	missense	probably damaging	0.99
R1023:Usp20	UTSW	2	31007813	missense	probably damaging	1.00
R1183:Usp20	UTSW	2	31011785	missense	probably benign	0.17
R1635:Usp20	UTSW	2	31018818	missense	probably benign	0.03
R2114:Usp20	UTSW	2	31016305	missense	probably damaging	1.00
R2115:Usp20	UTSW	2	31016305	missense	probably damaging	1.00
R2116:Usp20	UTSW	2	31016305	missense	probably damaging	1.00
R2117:Usp20	UTSW	2	31016305	missense	probably damaging	1.00
R2232:Usp20	UTSW	2	31018738	missense	probably benign	0.13
R2244:Usp20	UTSW	2	31010331	missense	possibly damaging	0.65
R2883:Usp20	UTSW	2	31018800	missense	probably benign
R4734:Usp20	UTSW	2	31019824	missense	probably benign	0.31
R5507:Usp20	UTSW	2	31010226	missense	probably benign
R5770:Usp20	UTSW	2	31017508	missense	probably damaging	1.00
R5862:Usp20	UTSW	2	31006449	nonsense	probably null
R6315:Usp20	UTSW	2	31017758	missense	possibly damaging	0.70
R7603:Usp20	UTSW	2	31011474	missense	probably damaging	1.00
R7887:Usp20	UTSW	2	31020894	missense	probably benign	0.34
R7930:Usp20	UTSW	2	31010544	missense	probably benign	0.21
R8542:Usp20	UTSW	2	31011624	missense	possibly damaging	0.94
R8965:Usp20	UTSW	2	31011785	missense	possibly damaging	0.77
R9079:Usp20	UTSW	2	31005108	intron	probably benign
R9226:Usp20	UTSW	2	31017400	missense	probably damaging	0.99
R9417:Usp20	UTSW	2	30983018	critical splice acceptor site	probably null
R9459:Usp20	UTSW	2	31011012	missense	probably damaging	0.99
Z1176:Usp20	UTSW	2	31019818	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGTGATGTACTCCTTCAAGGTCAGC -3'
(R):5'- AGGGTGTGGTATGAGCCACTAGC -3'

Sequencing Primer
(F):5'- AAGGTCAGCAGCCATGTCTC -3'
(R):5'- CTGGGGGCAGGTTGTGC -3'

Posted On

2013-05-23