Mutagenetix > Incidental Mutation

Incidental Mutation 'R6714:Usp32'

529262

Institutional Source

Beutler Lab

Gene Symbol

Usp32

Ensembl Gene

ENSMUSG00000000804

Gene Name

ubiquitin specific peptidase 32

Synonyms

6430526O11Rik, 2900074J03Rik

MMRRC Submission

044832-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6714 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84984442-85140161 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85026870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 777 (I777N)

Ref Sequence

ENSEMBL: ENSMUSP00000103710 (fasta)

Gene Model

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

AlphaFold

F8VPZ3

Predicted Effect

unknown
Transcript: ENSMUST00000000821
AA Change: I75N

SMART Domains

Protein: ENSMUSP00000000821
Gene: ENSMUSG00000000804
AA Change: I75N

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 damaging
Transcript: ENSMUST00000108075
AA Change: I777N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: I777N

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: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC061237	A	T	14: 44,504,182 (GRCm38)	R127S	possibly damaging	Het
Bub1	C	A	2: 127,814,732 (GRCm38)	M463I	probably benign	Het
Cdh23	T	C	10: 60,331,830 (GRCm38)	I1794V	possibly damaging	Het
Clspn	C	T	4: 126,565,768 (GRCm38)	T320M	probably damaging	Het
Coch	A	C	12: 51,602,737 (GRCm38)	D277A	probably damaging	Het
Col5a3	C	T	9: 20,779,033 (GRCm38)	G1162R	probably damaging	Het
Dnah7c	A	T	1: 46,740,806 (GRCm38)	I3223F	probably damaging	Het
E2f6	G	A	12: 16,819,002 (GRCm38)	V109I	probably damaging	Het
Edem2	A	T	2: 155,728,889 (GRCm38)		probably null	Het
Efcab8	A	G	2: 153,789,210 (GRCm38)	K187E	probably damaging	Het
Fam184a	T	C	10: 53,698,883 (GRCm38)	N210S	probably benign	Het
Fam208b	A	T	13: 3,594,189 (GRCm38)	F143L	probably benign	Het
Fan1	T	A	7: 64,372,486 (GRCm38)	N340Y	probably damaging	Het
Fsip2	A	G	2: 82,979,534 (GRCm38)	I2066V	probably benign	Het
Fsip2	A	G	2: 82,990,086 (GRCm38)	T5388A	possibly damaging	Het
Gm9992	T	G	17: 7,376,538 (GRCm38)	E124A	probably benign	Het
Gpc5	C	T	14: 115,552,303 (GRCm38)	Q530*	probably null	Het
Hmcn1	A	T	1: 150,704,175 (GRCm38)	I1937K	probably damaging	Het
Hpx	G	A	7: 105,595,095 (GRCm38)	R269C	probably damaging	Het
Ice1	T	C	13: 70,615,263 (GRCm38)		probably null	Het
Kbtbd4	A	T	2: 90,905,839 (GRCm38)		probably benign	Het
Ldlrad3	T	C	2: 101,952,952 (GRCm38)	T310A	probably benign	Het
Lrp4	G	A	2: 91,476,365 (GRCm38)	S341N	possibly damaging	Het
Map3k3	T	C	11: 106,114,222 (GRCm38)	V69A	possibly damaging	Het
Myh8	T	C	11: 67,306,949 (GRCm38)	Y1881H	probably damaging	Het
Nectin4	A	T	1: 171,370,650 (GRCm38)		probably benign	Het
Nhsl1	G	T	10: 18,524,711 (GRCm38)	V562L	possibly damaging	Het
Olfr729	A	T	14: 50,148,214 (GRCm38)	I220K	possibly damaging	Het
Olfr775	T	A	10: 129,250,940 (GRCm38)	N135K	possibly damaging	Het
Pcdhga7	T	A	18: 37,717,277 (GRCm38)	V779E	probably benign	Het
Peg12	T	A	7: 62,463,569 (GRCm38)	H260L	unknown	Het
Qrfpr	A	T	3: 36,180,256 (GRCm38)	M312K	possibly damaging	Het
Rbl2	T	A	8: 91,106,787 (GRCm38)	I730N	possibly damaging	Het
Rbm39	G	C	2: 156,161,618 (GRCm38)	L281V	possibly damaging	Het
Setd1b	A	G	5: 123,157,591 (GRCm38)	E1074G	unknown	Het
Sfr1	A	G	19: 47,734,966 (GRCm38)	D303G	probably damaging	Het
Slc7a12	T	C	3: 14,481,320 (GRCm38)	V175A	probably benign	Het
Slc8a1	A	T	17: 81,408,249 (GRCm38)	L785Q	probably damaging	Het
Spdl1	T	A	11: 34,823,003 (GRCm38)		probably null	Het
Spg11	T	C	2: 122,095,731 (GRCm38)	I694M	probably damaging	Het
Trpc1	A	T	9: 95,723,273 (GRCm38)	L111Q	probably damaging	Het
Tti1	A	G	2: 158,007,051 (GRCm38)	V756A	possibly damaging	Het
Zbtb8b	C	T	4: 129,432,983 (GRCm38)	E97K	probably damaging	Het
Zfhx4	A	G	3: 5,241,837 (GRCm38)	D41G	probably damaging	Het
Zfp493	A	T	13: 67,786,380 (GRCm38)	S151C	probably benign	Het
Zfp503	T	C	14: 21,985,757 (GRCm38)	T364A	probably benign	Het
Zfp507	T	C	7: 35,787,727 (GRCm38)	K772R	probably damaging	Het
Zfp804b	T	A	5: 6,769,239 (GRCm38)	M1275L	probably benign	Het
Zfp811	G	A	17: 32,797,762 (GRCm38)	H434Y	probably damaging	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
R6778:Usp32	UTSW	11	85,025,686 (GRCm38)	missense	probably benign	0.00
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'- CATTGGGTATTTAGGCTACACTTAGTG -3'
(R):5'- ACAGGTAATCTTTGGACCCAC -3'

Sequencing Primer
(F):5'- CTTACCCGGAGCTTTAAG -3'
(R):5'- GGACCCACCAGCAGTTTTC -3'

Posted On

2018-07-24