Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02720:Usp32'

304979

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp32

Ensembl Gene

ENSMUSG00000000804

Gene Name

ubiquitin specific peptidase 32

Synonyms

6430526O11Rik, 2900074J03Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02720

Quality Score

Status

Chromosome

Chromosomal Location

84984442-85140161 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 85006991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108075]

AlphaFold

F8VPZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000000821

SMART Domains

Protein: ENSMUSP00000000821
Gene: ENSMUSG00000000804

Domain	Start	End	E-Value	Type
Pfam:UCH	32	260	4.1e-51	PFAM
Pfam:UCH_1	33	228	1.7e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108075

SMART Domains

Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804

Domain	Start	End	E-Value	Type
EFh	232	260	4.66e0	SMART
EFh	268	296	5.8e-1	SMART
Blast:EFh	318	346	5e-7	BLAST
DUSP	389	588	2.32e-16	SMART
Pfam:Ubiquitin_3	628	711	2.4e-9	PFAM
Pfam:UCH	733	1564	2.4e-83	PFAM
Pfam:UCH_1	1202	1547	2.9e-12	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,122,703		probably benign	Het
Adgrv1	A	G	13: 81,578,872	S454P	probably damaging	Het
Adh4	A	T	3: 138,419,220	I51F	possibly damaging	Het
Amigo2	A	T	15: 97,245,697	C281*	probably null	Het
Btn2a2	C	T	13: 23,480,467	R307Q	probably benign	Het
C2cd6	T	C	1: 59,051,148	I483M	probably damaging	Het
Capn9	T	C	8: 124,600,497		probably benign	Het
Carmil3	A	G	14: 55,507,410	K1279E	probably damaging	Het
Cdadc1	T	C	14: 59,586,047	Y332C	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cep112	T	G	11: 108,859,351	F893L	probably damaging	Het
Cit	A	G	5: 115,995,452	S1867G	probably benign	Het
Clptm1l	T	C	13: 73,614,602		probably benign	Het
Cyp4a12b	A	T	4: 115,435,171		probably benign	Het
Dlx3	G	T	11: 95,123,644	W251L	possibly damaging	Het
Dnah1	C	T	14: 31,262,220	V3993M	probably damaging	Het
Efs	A	T	14: 54,919,715	Y380N	probably damaging	Het
Fam53c	T	A	18: 34,770,667	W331R	probably damaging	Het
Gm5414	T	C	15: 101,625,555	E331G	probably damaging	Het
Gstcd	A	G	3: 133,071,961	V363A	probably benign	Het
Jak1	A	G	4: 101,164,450		probably benign	Het
Kifc3	A	G	8: 95,108,365	V264A	probably benign	Het
Mapk8ip2	A	G	15: 89,457,582	D332G	probably damaging	Het
Nbeal1	G	A	1: 60,283,987	E2075K	probably damaging	Het
Olfr553	C	T	7: 102,614,839	G50E	probably damaging	Het
Opn5	T	G	17: 42,596,626	S120R	probably damaging	Het
Paqr8	C	T	1: 20,935,509	Q296*	probably null	Het
Pcsk6	C	T	7: 65,980,247	R374*	probably null	Het
Pld1	A	G	3: 28,087,262	H469R	probably damaging	Het
Rbl1	A	G	2: 157,199,429	S93P	possibly damaging	Het
Reln	C	T	5: 21,997,941	R1287Q	probably damaging	Het
Rev3l	C	T	10: 39,822,395	R963*	probably null	Het
Serinc4	C	T	2: 121,452,427	S418N	probably benign	Het
Slc6a18	A	G	13: 73,669,968	M310T	probably benign	Het
Slitrk3	T	A	3: 73,050,768	S224C	probably damaging	Het
Slu7	T	C	11: 43,445,203	I471T	probably benign	Het
Stxbp5	A	G	10: 9,789,361		probably null	Het
Tm7sf3	A	T	6: 146,613,374		probably benign	Het
Trem1	C	T	17: 48,232,841	S16L	probably benign	Het
Trp53bp2	T	A	1: 182,453,724	D963E	probably benign	Het
Trp63	A	T	16: 25,863,741	D184V	probably damaging	Het
Ttll6	T	C	11: 96,152,073		probably null	Het
Vmn2r14	A	T	5: 109,221,439	N89K	probably damaging	Het
Vmn2r76	T	C	7: 86,225,706	R688G	probably benign	Het
Vmn2r93	A	T	17: 18,305,034	H318L	probably damaging	Het
Vstm4	A	G	14: 32,863,617	H47R	probably damaging	Het
Wdr55	A	G	18: 36,763,382	E375G	probably benign	Het
Ybx2	T	A	11: 69,940,331	S56T	probably benign	Het
Ybx2	C	A	11: 69,940,332	S251Y	probably benign	Het
Zbtb3	T	C	19: 8,804,214		probably null	Het

Other mutations in Usp32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00529:Usp32	APN	11	84994426	missense	probably damaging	1.00
IGL00701:Usp32	APN	11	85059125	splice site	probably null
IGL00848:Usp32	APN	11	85051181	splice site	probably benign
IGL00934:Usp32	APN	11	85007076	missense	probably damaging	1.00
IGL01019:Usp32	APN	11	85039265	missense	probably damaging	0.97
IGL01302:Usp32	APN	11	84988482	missense	probably benign	0.05
IGL01444:Usp32	APN	11	85059164	missense	probably damaging	0.97
IGL01575:Usp32	APN	11	85022802	missense	probably damaging	1.00
IGL01981:Usp32	APN	11	85036524	missense	probably benign	0.02
IGL02118:Usp32	APN	11	85032177	nonsense	probably null
IGL02159:Usp32	APN	11	85005802	splice site	probably null
IGL02227:Usp32	APN	11	84986481	missense	probably damaging	1.00
IGL02363:Usp32	APN	11	85044787	missense	probably benign	0.01
IGL02524:Usp32	APN	11	85010011	nonsense	probably null
IGL02613:Usp32	APN	11	85040070	missense	probably damaging	0.99
IGL02738:Usp32	APN	11	85083806	missense	probably damaging	1.00
IGL02929:Usp32	APN	11	84988372	missense	probably benign	0.01
IGL03303:Usp32	APN	11	85022832	missense	probably damaging	1.00
BB010:Usp32	UTSW	11	85007059	missense	probably damaging	1.00
BB020:Usp32	UTSW	11	85007059	missense	probably damaging	1.00
PIT4812001:Usp32	UTSW	11	85010074	missense	probably damaging	1.00
R0026:Usp32	UTSW	11	85032074	missense	possibly damaging	0.48
R0295:Usp32	UTSW	11	85053692	missense	probably damaging	0.98
R1320:Usp32	UTSW	11	85017793	missense	probably damaging	0.98
R1712:Usp32	UTSW	11	85042580	missense	probably benign	0.12
R1922:Usp32	UTSW	11	85007004	nonsense	probably null
R1973:Usp32	UTSW	11	85103931	missense	probably benign	0.09
R2010:Usp32	UTSW	11	85040004	missense	probably damaging	0.98
R2082:Usp32	UTSW	11	85030512	missense	probably damaging	0.99
R2355:Usp32	UTSW	11	85005909	missense	probably benign	0.34
R3147:Usp32	UTSW	11	85029087	missense	probably damaging	1.00
R3160:Usp32	UTSW	11	85025536	missense	probably damaging	0.97
R3162:Usp32	UTSW	11	85025536	missense	probably damaging	0.97
R3716:Usp32	UTSW	11	85042563	missense	probably damaging	1.00
R3816:Usp32	UTSW	11	84994384	critical splice donor site	probably null
R3870:Usp32	UTSW	11	85007055	nonsense	probably null
R3871:Usp32	UTSW	11	85081156	missense	probably null	0.81
R4041:Usp32	UTSW	11	85017739	missense	probably benign	0.40
R4079:Usp32	UTSW	11	85039229	missense	probably damaging	0.98
R4332:Usp32	UTSW	11	85103978	missense	possibly damaging	0.79
R4396:Usp32	UTSW	11	85053975	missense	probably benign
R4580:Usp32	UTSW	11	85059127	critical splice donor site	probably null
R4620:Usp32	UTSW	11	85059127	critical splice donor site	probably null
R4744:Usp32	UTSW	11	84994393	missense	probably damaging	1.00
R4909:Usp32	UTSW	11	85055772	nonsense	probably null
R5056:Usp32	UTSW	11	85026795	missense	probably benign	0.07
R5111:Usp32	UTSW	11	85077331	missense	possibly damaging	0.95
R5213:Usp32	UTSW	11	85022259	missense	probably damaging	1.00
R5308:Usp32	UTSW	11	85017718	missense	probably benign	0.12
R5381:Usp32	UTSW	11	85059127	critical splice donor site	probably benign
R5538:Usp32	UTSW	11	85017786	missense	possibly damaging	0.65
R5659:Usp32	UTSW	11	85077414	missense	possibly damaging	0.94
R6006:Usp32	UTSW	11	84992451	critical splice donor site	probably null
R6011:Usp32	UTSW	11	85032097	missense	possibly damaging	0.70
R6029:Usp32	UTSW	11	85025582	missense	probably damaging	0.99
R6074:Usp32	UTSW	11	84994573	missense	probably benign	0.00
R6331:Usp32	UTSW	11	84986576	missense	possibly damaging	0.92
R6353:Usp32	UTSW	11	85022281	missense	probably benign
R6714:Usp32	UTSW	11	85026870	missense	probably damaging	0.99
R6778:Usp32	UTSW	11	85025686	missense	probably benign	0.00
R6988:Usp32	UTSW	11	85010143	missense	probably benign	0.35
R6992:Usp32	UTSW	11	85032088	missense	probably damaging	0.99
R7182:Usp32	UTSW	11	85040170	missense	probably benign	0.34
R7186:Usp32	UTSW	11	85051234	missense	probably benign	0.45
R7198:Usp32	UTSW	11	85022855	frame shift	probably null
R7201:Usp32	UTSW	11	85022855	frame shift	probably null
R7469:Usp32	UTSW	11	84988553	missense	possibly damaging	0.94
R7502:Usp32	UTSW	11	85022898	missense	possibly damaging	0.48
R7513:Usp32	UTSW	11	85027112	nonsense	probably null
R7629:Usp32	UTSW	11	85019855	frame shift	probably null
R7703:Usp32	UTSW	11	85077327	missense	probably damaging	0.99
R7741:Usp32	UTSW	11	84987281	missense	probably damaging	0.99
R7765:Usp32	UTSW	11	84994408	missense	probably damaging	1.00
R7933:Usp32	UTSW	11	85007059	missense	probably damaging	1.00
R7973:Usp32	UTSW	11	85022808	missense	probably damaging	0.99
R7989:Usp32	UTSW	11	85034300	missense
R7998:Usp32	UTSW	11	84994426	missense	probably damaging	1.00
R8292:Usp32	UTSW	11	85077401	missense	probably damaging	0.99
R8305:Usp32	UTSW	11	85032185	missense	possibly damaging	0.83
R8548:Usp32	UTSW	11	85017827	missense	possibly damaging	0.52
R8924:Usp32	UTSW	11	85025544	missense	probably damaging	0.98
R9002:Usp32	UTSW	11	85053951	missense	probably damaging	0.96
R9145:Usp32	UTSW	11	85022292	missense	probably damaging	1.00
R9209:Usp32	UTSW	11	85040012	missense	probably damaging	0.98
R9211:Usp32	UTSW	11	85022733	missense	probably damaging	1.00
R9296:Usp32	UTSW	11	85017652	missense	probably damaging	1.00
R9310:Usp32	UTSW	11	85051202	missense	probably benign	0.29
R9417:Usp32	UTSW	11	84994543	missense	probably damaging	1.00
R9514:Usp32	UTSW	11	85022734	missense	probably damaging	0.99
X0028:Usp32	UTSW	11	84992606	missense	probably benign	0.05
Z1177:Usp32	UTSW	11	84988612	nonsense	probably null

Posted On

2015-04-16