Mutagenetix > Incidental Mutation

Incidental Mutation 'R6778:Usp32'

531381

Institutional Source

Beutler Lab

Gene Symbol

Usp32

Ensembl Gene

ENSMUSG00000000804

Gene Name

ubiquitin specific peptidase 32

Synonyms

6430526O11Rik, 2900074J03Rik

MMRRC Submission

044894-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6778 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84984442-85140161 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85025686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 811 (I811V)

Ref Sequence

ENSEMBL: ENSMUSP00000103710 (fasta)

Gene Model

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

AlphaFold

F8VPZ3

Predicted Effect

unknown
Transcript: ENSMUST00000000821
AA Change: I109V

SMART Domains

Protein: ENSMUSP00000000821
Gene: ENSMUSG00000000804
AA Change: I109V

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 benign
Transcript: ENSMUST00000108075
AA Change: I811V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: I811V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174602

SMART Domains

Protein: ENSMUSP00000134476
Gene: ENSMUSG00000000804

Domain	Start	End	E-Value	Type
Pfam:DUSP	1	65	6.5e-17	PFAM
Pfam:Ubiquitin_3	122	216	8e-10	PFAM
Pfam:UCH	238	257	1.2e-7	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	A	10: 61,225,452 (GRCm38)	N403Y	probably damaging	Het
Akap6	A	G	12: 53,025,816 (GRCm38)	E989G	probably damaging	Het
Aoc2	A	G	11: 101,325,361 (GRCm38)	N90S	probably damaging	Het
Apol9a	T	C	15: 77,404,333 (GRCm38)	Y278C	probably benign	Het
Casq2	T	A	3: 102,127,931 (GRCm38)		probably null	Het
Ccdc7a	T	A	8: 128,821,120 (GRCm38)	T1284S	possibly damaging	Het
Dlat	A	G	9: 50,650,857 (GRCm38)	L289P	probably damaging	Het
Dnah8	C	T	17: 30,635,666 (GRCm38)	P101S	probably benign	Het
Dzip3	C	A	16: 48,982,083 (GRCm38)	A28S	probably benign	Het
Fam205c	T	C	4: 42,868,522 (GRCm38)	K367R	possibly damaging	Het
Ffar4	A	G	19: 38,113,664 (GRCm38)	E249G	possibly damaging	Het
Fubp3	A	T	2: 31,598,673 (GRCm38)	K180N	possibly damaging	Het
Gm7489	T	A	15: 53,885,952 (GRCm38)		probably benign	Het
Ifitm6	A	T	7: 141,016,143 (GRCm38)	M59K	possibly damaging	Het
Igkv4-80	A	T	6: 69,016,561 (GRCm38)	Y115*	probably null	Het
Igsf21	G	T	4: 140,034,648 (GRCm38)	R240S	probably benign	Het
Kank4	A	T	4: 98,761,505 (GRCm38)	N942K	probably benign	Het
Man2a1	C	A	17: 64,714,635 (GRCm38)	T35K	possibly damaging	Het
Mvk	T	A	5: 114,452,380 (GRCm38)	D193E	probably benign	Het
Npas2	T	A	1: 39,325,300 (GRCm38)	M241K	possibly damaging	Het
Npsr1	T	A	9: 24,254,618 (GRCm38)	I100N	possibly damaging	Het
Olfml2b	A	G	1: 170,645,070 (GRCm38)	D50G	probably damaging	Het
Olfr961	T	A	9: 39,646,747 (GRCm38)	V7E	probably damaging	Het
Pcnx	A	G	12: 81,918,871 (GRCm38)	D604G	probably damaging	Het
Pitx2	C	T	3: 129,218,743 (GRCm38)	P254L	probably damaging	Het
Rdh10	T	C	1: 16,106,184 (GRCm38)	F56S	probably damaging	Het
Rin1	T	C	19: 5,054,886 (GRCm38)	L647P	probably damaging	Het
Sgk3	T	A	1: 9,886,144 (GRCm38)		probably null	Het
Sgpp1	A	G	12: 75,716,294 (GRCm38)	I371T	probably benign	Het
Slc12a9	T	C	5: 137,315,081 (GRCm38)	Y872C	possibly damaging	Het
Syne1	A	G	10: 5,102,406 (GRCm38)	F7487L	probably damaging	Het
Tars	T	C	15: 11,389,699 (GRCm38)	N375S	probably benign	Het
Tbc1d31	A	G	15: 57,938,029 (GRCm38)	Y320C	probably damaging	Het
Tbl1xr1	T	A	3: 22,189,782 (GRCm38)	F73L	probably benign	Het
Tmem145	G	A	7: 25,311,376 (GRCm38)	V378I	probably benign	Het
Tmprss11d	T	C	5: 86,309,350 (GRCm38)	H150R	probably benign	Het
Tnc	T	G	4: 63,995,598 (GRCm38)	I1326L	probably benign	Het
Trpc7	T	C	13: 56,804,687 (GRCm38)	Y502C	probably damaging	Het
Vmn1r71	C	T	7: 10,748,216 (GRCm38)	A182T	probably benign	Het
Wdr47	T	A	3: 108,633,096 (GRCm38)	N602K	probably benign	Het

Other mutations in Usp32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00529:Usp32	APN	11	84,994,426 (GRCm38)	missense	probably damaging	1.00
IGL00701:Usp32	APN	11	85,059,125 (GRCm38)	splice site	probably null
IGL00848:Usp32	APN	11	85,051,181 (GRCm38)	splice site	probably benign
IGL00934:Usp32	APN	11	85,007,076 (GRCm38)	missense	probably damaging	1.00
IGL01019:Usp32	APN	11	85,039,265 (GRCm38)	missense	probably damaging	0.97
IGL01302:Usp32	APN	11	84,988,482 (GRCm38)	missense	probably benign	0.05
IGL01444:Usp32	APN	11	85,059,164 (GRCm38)	missense	probably damaging	0.97
IGL01575:Usp32	APN	11	85,022,802 (GRCm38)	missense	probably damaging	1.00
IGL01981:Usp32	APN	11	85,036,524 (GRCm38)	missense	probably benign	0.02
IGL02118:Usp32	APN	11	85,032,177 (GRCm38)	nonsense	probably null
IGL02159:Usp32	APN	11	85,005,802 (GRCm38)	splice site	probably null
IGL02227:Usp32	APN	11	84,986,481 (GRCm38)	missense	probably damaging	1.00
IGL02363:Usp32	APN	11	85,044,787 (GRCm38)	missense	probably benign	0.01
IGL02524:Usp32	APN	11	85,010,011 (GRCm38)	nonsense	probably null
IGL02613:Usp32	APN	11	85,040,070 (GRCm38)	missense	probably damaging	0.99
IGL02720:Usp32	APN	11	85,006,991 (GRCm38)	critical splice donor site	probably null
IGL02738:Usp32	APN	11	85,083,806 (GRCm38)	missense	probably damaging	1.00
IGL02929:Usp32	APN	11	84,988,372 (GRCm38)	missense	probably benign	0.01
IGL03303:Usp32	APN	11	85,022,832 (GRCm38)	missense	probably damaging	1.00
BB010:Usp32	UTSW	11	85,007,059 (GRCm38)	missense	probably damaging	1.00
BB020:Usp32	UTSW	11	85,007,059 (GRCm38)	missense	probably damaging	1.00
PIT4812001:Usp32	UTSW	11	85,010,074 (GRCm38)	missense	probably damaging	1.00
R0026:Usp32	UTSW	11	85,032,074 (GRCm38)	missense	possibly damaging	0.48
R0295:Usp32	UTSW	11	85,053,692 (GRCm38)	missense	probably damaging	0.98
R1320:Usp32	UTSW	11	85,017,793 (GRCm38)	missense	probably damaging	0.98
R1712:Usp32	UTSW	11	85,042,580 (GRCm38)	missense	probably benign	0.12
R1922:Usp32	UTSW	11	85,007,004 (GRCm38)	nonsense	probably null
R1973:Usp32	UTSW	11	85,103,931 (GRCm38)	missense	probably benign	0.09
R2010:Usp32	UTSW	11	85,040,004 (GRCm38)	missense	probably damaging	0.98
R2082:Usp32	UTSW	11	85,030,512 (GRCm38)	missense	probably damaging	0.99
R2355:Usp32	UTSW	11	85,005,909 (GRCm38)	missense	probably benign	0.34
R3147:Usp32	UTSW	11	85,029,087 (GRCm38)	missense	probably damaging	1.00
R3160:Usp32	UTSW	11	85,025,536 (GRCm38)	missense	probably damaging	0.97
R3162:Usp32	UTSW	11	85,025,536 (GRCm38)	missense	probably damaging	0.97
R3716:Usp32	UTSW	11	85,042,563 (GRCm38)	missense	probably damaging	1.00
R3816:Usp32	UTSW	11	84,994,384 (GRCm38)	critical splice donor site	probably null
R3870:Usp32	UTSW	11	85,007,055 (GRCm38)	nonsense	probably null
R3871:Usp32	UTSW	11	85,081,156 (GRCm38)	missense	probably null	0.81
R4041:Usp32	UTSW	11	85,017,739 (GRCm38)	missense	probably benign	0.40
R4079:Usp32	UTSW	11	85,039,229 (GRCm38)	missense	probably damaging	0.98
R4332:Usp32	UTSW	11	85,103,978 (GRCm38)	missense	possibly damaging	0.79
R4396:Usp32	UTSW	11	85,053,975 (GRCm38)	missense	probably benign
R4580:Usp32	UTSW	11	85,059,127 (GRCm38)	critical splice donor site	probably null
R4620:Usp32	UTSW	11	85,059,127 (GRCm38)	critical splice donor site	probably null
R4744:Usp32	UTSW	11	84,994,393 (GRCm38)	missense	probably damaging	1.00
R4909:Usp32	UTSW	11	85,055,772 (GRCm38)	nonsense	probably null
R5056:Usp32	UTSW	11	85,026,795 (GRCm38)	missense	probably benign	0.07
R5111:Usp32	UTSW	11	85,077,331 (GRCm38)	missense	possibly damaging	0.95
R5213:Usp32	UTSW	11	85,022,259 (GRCm38)	missense	probably damaging	1.00
R5308:Usp32	UTSW	11	85,017,718 (GRCm38)	missense	probably benign	0.12
R5381:Usp32	UTSW	11	85,059,127 (GRCm38)	critical splice donor site	probably benign
R5538:Usp32	UTSW	11	85,017,786 (GRCm38)	missense	possibly damaging	0.65
R5659:Usp32	UTSW	11	85,077,414 (GRCm38)	missense	possibly damaging	0.94
R6006:Usp32	UTSW	11	84,992,451 (GRCm38)	critical splice donor site	probably null
R6011:Usp32	UTSW	11	85,032,097 (GRCm38)	missense	possibly damaging	0.70
R6029:Usp32	UTSW	11	85,025,582 (GRCm38)	missense	probably damaging	0.99
R6074:Usp32	UTSW	11	84,994,573 (GRCm38)	missense	probably benign	0.00
R6331:Usp32	UTSW	11	84,986,576 (GRCm38)	missense	possibly damaging	0.92
R6353:Usp32	UTSW	11	85,022,281 (GRCm38)	missense	probably benign
R6714:Usp32	UTSW	11	85,026,870 (GRCm38)	missense	probably damaging	0.99
R6988:Usp32	UTSW	11	85,010,143 (GRCm38)	missense	probably benign	0.35
R6992:Usp32	UTSW	11	85,032,088 (GRCm38)	missense	probably damaging	0.99
R7182:Usp32	UTSW	11	85,040,170 (GRCm38)	missense	probably benign	0.34
R7186:Usp32	UTSW	11	85,051,234 (GRCm38)	missense	probably benign	0.45
R7198:Usp32	UTSW	11	85,022,855 (GRCm38)	frame shift	probably null
R7201:Usp32	UTSW	11	85,022,855 (GRCm38)	frame shift	probably null
R7469:Usp32	UTSW	11	84,988,553 (GRCm38)	missense	possibly damaging	0.94
R7502:Usp32	UTSW	11	85,022,898 (GRCm38)	missense	possibly damaging	0.48
R7513:Usp32	UTSW	11	85,027,112 (GRCm38)	nonsense	probably null
R7629:Usp32	UTSW	11	85,019,855 (GRCm38)	frame shift	probably null
R7703:Usp32	UTSW	11	85,077,327 (GRCm38)	missense	probably damaging	0.99
R7741:Usp32	UTSW	11	84,987,281 (GRCm38)	missense	probably damaging	0.99
R7765:Usp32	UTSW	11	84,994,408 (GRCm38)	missense	probably damaging	1.00
R7933:Usp32	UTSW	11	85,007,059 (GRCm38)	missense	probably damaging	1.00
R7973:Usp32	UTSW	11	85,022,808 (GRCm38)	missense	probably damaging	0.99
R7989:Usp32	UTSW	11	85,034,300 (GRCm38)	missense
R7998:Usp32	UTSW	11	84,994,426 (GRCm38)	missense	probably damaging	1.00
R8292:Usp32	UTSW	11	85,077,401 (GRCm38)	missense	probably damaging	0.99
R8305:Usp32	UTSW	11	85,032,185 (GRCm38)	missense	possibly damaging	0.83
R8548:Usp32	UTSW	11	85,017,827 (GRCm38)	missense	possibly damaging	0.52
R8924:Usp32	UTSW	11	85,025,544 (GRCm38)	missense	probably damaging	0.98
R9002:Usp32	UTSW	11	85,053,951 (GRCm38)	missense	probably damaging	0.96
R9145:Usp32	UTSW	11	85,022,292 (GRCm38)	missense	probably damaging	1.00
R9209:Usp32	UTSW	11	85,040,012 (GRCm38)	missense	probably damaging	0.98
R9211:Usp32	UTSW	11	85,022,733 (GRCm38)	missense	probably damaging	1.00
R9296:Usp32	UTSW	11	85,017,652 (GRCm38)	missense	probably damaging	1.00
R9310:Usp32	UTSW	11	85,051,202 (GRCm38)	missense	probably benign	0.29
R9417:Usp32	UTSW	11	84,994,543 (GRCm38)	missense	probably damaging	1.00
R9514:Usp32	UTSW	11	85,022,734 (GRCm38)	missense	probably damaging	0.99
R9652:Usp32	UTSW	11	85,030,491 (GRCm38)	missense	probably damaging	0.97
R9723:Usp32	UTSW	11	85,044,710 (GRCm38)	nonsense	probably null
R9757:Usp32	UTSW	11	85,077,329 (GRCm38)	nonsense	probably null
X0028:Usp32	UTSW	11	84,992,606 (GRCm38)	missense	probably benign	0.05
Z1177:Usp32	UTSW	11	84,988,612 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCAGCTAAGTAGGTAGAACACAAG -3'
(R):5'- GATGGTATCAATGGCCAAAATGC -3'

Sequencing Primer
(F):5'- TCAAAACTAACAAACCTCTGCAG -3'
(R):5'- GCCAAAATGCCTCTTATTTTTCTGG -3'

Posted On

2018-08-29