Mutagenetix > Incidental Mutation

Incidental Mutation 'R1846:Usp4'

207737

Institutional Source

Beutler Lab

Gene Symbol

Usp4

Ensembl Gene

ENSMUSG00000032612

Gene Name

ubiquitin specific peptidase 4 (proto-oncogene)

Synonyms

F730026I20Rik, Unp

MMRRC Submission

039871-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R1846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108347853-108392545 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108372736 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 441 (I441V)

Ref Sequence

ENSEMBL: ENSMUSP00000141368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035237] [ENSMUST00000194224] [ENSMUST00000194959]

AlphaFold

P35123

Predicted Effect

probably benign
Transcript: ENSMUST00000035237
AA Change: I488V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035237
Gene: ENSMUSG00000032612
AA Change: I488V

Domain	Start	End	E-Value	Type
DUSP	27	125	1.39e-46	SMART
Pfam:Ubiquitin_3	139	226	6.7e-34	PFAM
low complexity region	263	286	N/A	INTRINSIC
Pfam:UCH	301	919	2.2e-84	PFAM
Pfam:UCH_1	302	507	2.8e-8	PFAM
Pfam:UCH_1	605	901	1.4e-15	PFAM
low complexity region	927	938	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000193288
AA Change: I15V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194065

Predicted Effect

probably benign
Transcript: ENSMUST00000194224
AA Change: I488V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141321
Gene: ENSMUSG00000032612
AA Change: I488V

Domain	Start	End	E-Value	Type
DUSP	27	125	5.5e-49	SMART
Pfam:Ubiquitin_3	139	226	1.3e-30	PFAM
low complexity region	263	286	N/A	INTRINSIC
Pfam:UCH	301	633	1.4e-50	PFAM
Pfam:UCH_1	302	520	2.3e-8	PFAM
low complexity region	657	673	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194959
AA Change: I441V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141368
Gene: ENSMUSG00000032612
AA Change: I441V

Domain	Start	End	E-Value	Type
DUSP	27	125	5.5e-49	SMART
Pfam:Ubiquitin_3	139	226	1.7e-30	PFAM
Pfam:UCH	254	872	7e-89	PFAM
Pfam:UCH_1	255	469	3.5e-8	PFAM
Pfam:UCH_1	566	854	2.5e-14	PFAM
low complexity region	880	891	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

99% (75/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased irradiation-induced apoptosis, slow cellular growth, resistance to oncogenic transformation, and early cellular replicative senescence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	G	T	14: 49,235,963	L102I	probably damaging	Het
2900092C05Rik	G	A	7: 12,512,882	R63Q	probably benign	Het
Adamts20	A	T	15: 94,345,990	C619S	probably damaging	Het
Alx1	T	C	10: 103,025,304	D121G	possibly damaging	Het
Anks3	A	C	16: 4,953,884	M215R	probably benign	Het
Anxa4	T	A	6: 86,741,911		probably null	Het
Arhgef25	A	G	10: 127,185,864	V222A	probably damaging	Het
Bglap2	A	G	3: 88,378,625		probably benign	Het
Cars2	A	G	8: 11,514,674	V22A	probably benign	Het
Cenpe	T	A	3: 135,239,845	I1040N	probably damaging	Het
Cep170	C	T	1: 176,755,769	D1015N	probably damaging	Het
Chia1	T	A	3: 106,130,865	I359N	probably damaging	Het
Crot	A	T	5: 8,988,248	V93E	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dnmbp	T	C	19: 43,902,747	I194V	probably damaging	Het
Dock4	T	A	12: 40,733,268	C734S	probably benign	Het
Eif4e3	T	C	6: 99,640,701	S70G	probably benign	Het
Entpd3	G	A	9: 120,558,375	D213N	probably benign	Het
Ern2	T	G	7: 122,176,536	Y445S	probably benign	Het
Fasn	A	G	11: 120,813,307	S1429P	probably benign	Het
Fat4	A	G	3: 38,982,383	I3395V	probably benign	Het
Fbln2	C	A	6: 91,256,417	Q628K	possibly damaging	Het
Fbxo28	T	C	1: 182,326,280	N164D	probably benign	Het
Fez1	T	C	9: 36,867,767	S247P	probably damaging	Het
Gars	A	G	6: 55,063,168	D360G	probably benign	Het
Gcfc2	A	T	6: 81,956,892	Q710L	probably damaging	Het
Ggt5	A	G	10: 75,610,542		probably null	Het
Glp1r	A	G	17: 30,929,935		probably null	Het
Hspa14	T	C	2: 3,491,660	D356G	possibly damaging	Het
Htt	T	A	5: 34,848,944	I1399N	probably damaging	Het
Kmt2e	G	A	5: 23,499,486		probably benign	Het
Krt36	C	A	11: 100,105,548	G17C	probably damaging	Het
Lama2	T	C	10: 27,212,096	E895G	probably damaging	Het
Lamb2	G	A	9: 108,487,387	R1142H	probably benign	Het
Lhcgr	C	T	17: 88,765,147		probably null	Het
Lpin2	A	G	17: 71,225,069	T140A	probably benign	Het
Metap1	A	G	3: 138,480,682		probably benign	Het
Mpeg1	T	C	19: 12,463,122	V648A	probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Muc4	T	A	16: 32,752,369	I749N	probably benign	Het
N4bp2	T	C	5: 65,808,519	F1304L	probably damaging	Het
Nup85	A	G	11: 115,568,413	E114G	probably benign	Het
Olfr1258	A	G	2: 89,930,666	T286A	possibly damaging	Het
Olfr1415	A	T	1: 92,491,100	Y218*	probably null	Het
Olfr448	A	G	6: 42,897,320	S290G	probably damaging	Het
Pafah2	GCCCC	GCCCCC	4: 134,425,541		probably null	Het
Parp2	T	A	14: 50,815,386	C145*	probably null	Het
Plpp6	T	C	19: 28,964,280	S94P	probably benign	Het
Polr1a	T	C	6: 71,976,188	I1580T	probably damaging	Het
Polrmt	A	T	10: 79,738,209	V860E	probably damaging	Het
Ppp1r17	A	G	6: 56,022,427	E15G	possibly damaging	Het
Prl7b1	A	T	13: 27,602,848	W133R	probably damaging	Het
Ptk7	A	G	17: 46,576,490		probably null	Het
Rad23b	C	T	4: 55,383,637	Q290*	probably null	Het
Rorb	C	T	19: 18,955,081	E369K	probably damaging	Het
Rusc1	T	C	3: 89,092,145	D110G	probably damaging	Het
Smg7	A	G	1: 152,848,850	S527P	probably damaging	Het
Ssbp2	C	T	13: 91,664,149	P105L	probably damaging	Het
Stt3a	C	T	9: 36,763,385	R34H	probably damaging	Het
Sufu	T	A	19: 46,450,947	I202N	possibly damaging	Het
Thsd7b	G	A	1: 129,613,256	R289Q	probably damaging	Het
Tph1	A	T	7: 46,660,439	S130T	probably damaging	Het
Ttn	A	G	2: 76,945,686	S1671P	probably damaging	Het
Vmn1r8	A	G	6: 57,036,428	N155D	probably benign	Het
Vmn2r115	A	C	17: 23,359,383	K610T	probably damaging	Het
Vmn2r62	G	A	7: 42,789,122	P97S	probably damaging	Het
Zbtb40	T	C	4: 137,007,839	D297G	probably benign	Het
Zfp174	C	A	16: 3,854,735	Q383K	probably benign	Het
Zfp318	T	A	17: 46,413,666	D2198E	probably benign	Het
Zfp628	C	T	7: 4,920,867	P696L	possibly damaging	Het
Zgrf1	T	A	3: 127,615,463	N1695K	probably damaging	Het

Other mutations in Usp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Usp4	APN	9	108362900	critical splice donor site	probably null
IGL01663:Usp4	APN	9	108365880	missense	possibly damaging	0.80
IGL02105:Usp4	APN	9	108384932	missense	probably damaging	1.00
IGL02486:Usp4	APN	9	108351029	missense	probably damaging	1.00
kleinesrot	UTSW	9	108356462	missense	possibly damaging	0.95
R0148:Usp4	UTSW	9	108391671	splice site	probably null
R0285:Usp4	UTSW	9	108378564	missense	probably benign	0.33
R0591:Usp4	UTSW	9	108348029	splice site	probably benign
R0594:Usp4	UTSW	9	108370881	splice site	probably null
R0616:Usp4	UTSW	9	108366804	missense	probably benign
R1329:Usp4	UTSW	9	108372566	missense	probably damaging	1.00
R1508:Usp4	UTSW	9	108372674	missense	probably benign	0.14
R1752:Usp4	UTSW	9	108374242	missense	probably damaging	1.00
R1824:Usp4	UTSW	9	108348008	missense	probably damaging	1.00
R2196:Usp4	UTSW	9	108373686	missense	probably benign	0.07
R2925:Usp4	UTSW	9	108367856	missense	probably damaging	1.00
R4126:Usp4	UTSW	9	108360117	missense	probably benign	0.10
R4345:Usp4	UTSW	9	108368023	intron	probably benign
R4965:Usp4	UTSW	9	108362620	missense	probably damaging	1.00
R4981:Usp4	UTSW	9	108381418	missense	probably benign	0.00
R5110:Usp4	UTSW	9	108362678	missense	probably damaging	1.00
R5580:Usp4	UTSW	9	108365859	missense	probably benign	0.09
R5586:Usp4	UTSW	9	108356462	missense	possibly damaging	0.95
R5927:Usp4	UTSW	9	108391760	missense	probably benign	0.09
R6025:Usp4	UTSW	9	108360123	missense	possibly damaging	0.70
R6112:Usp4	UTSW	9	108356504	missense	probably damaging	1.00
R6197:Usp4	UTSW	9	108370955	missense	probably damaging	1.00
R6742:Usp4	UTSW	9	108374239	missense	possibly damaging	0.74
R7320:Usp4	UTSW	9	108388306	missense	probably benign	0.00
R7458:Usp4	UTSW	9	108367856	missense	probably damaging	1.00
R7531:Usp4	UTSW	9	108372680	missense	probably damaging	1.00
R7563:Usp4	UTSW	9	108379344	missense	probably benign
R8022:Usp4	UTSW	9	108378471	missense	probably damaging	0.99
R8510:Usp4	UTSW	9	108388382	critical splice donor site	probably null
R8996:Usp4	UTSW	9	108391710	missense	probably damaging	1.00
R9151:Usp4	UTSW	9	108366812	missense	probably benign	0.00
X0026:Usp4	UTSW	9	108347870	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GACAGATGTTGCGAATCTCCC -3'
(R):5'- TGCACATAGAGACTTAAGCCC -3'

Sequencing Primer
(F):5'- GATGTTGCGAATCTCCCTACTTAATC -3'
(R):5'- CACATAGAGACTTAAGCCCAAGGG -3'

Posted On

2014-06-23