Mutagenetix > Incidental Mutation

Incidental Mutation 'R5056:Usp32'

390864

Institutional Source

Beutler Lab

Gene Symbol

Usp32

Ensembl Gene

ENSMUSG00000000804

Gene Name

ubiquitin specific peptidase 32

Synonyms

2900074J03Rik, 6430526O11Rik

MMRRC Submission

042646-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5056 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84875268-85030987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84917621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 802 (V802A)

Ref Sequence

ENSEMBL: ENSMUSP00000103710 (fasta)

Gene Model

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

AlphaFold

F8VPZ3

Predicted Effect

unknown
Transcript: ENSMUST00000000821
AA Change: V100A

SMART Domains

Protein: ENSMUSP00000000821
Gene: ENSMUSG00000000804
AA Change: V100A

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: V802A

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: V802A

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

Meta Mutation Damage Score

0.4926

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.2%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	A	8: 117,698,421 (GRCm39)	K229*	probably null	Het
Adora2a	T	A	10: 75,161,992 (GRCm39)	S44T	probably damaging	Het
Agap3	T	C	5: 24,682,860 (GRCm39)	V459A	probably damaging	Het
Apc2	T	C	10: 80,137,148 (GRCm39)	V31A	probably benign	Het
Asic2	T	A	11: 80,862,429 (GRCm39)	K189N	possibly damaging	Het
Bbs10	C	T	10: 111,136,401 (GRCm39)	P505S	probably benign	Het
Brd10	A	T	19: 29,694,759 (GRCm39)	I1578K	probably benign	Het
Cdh20	G	T	1: 104,881,722 (GRCm39)	V396L	probably benign	Het
Cenpb	C	T	2: 131,020,091 (GRCm39)		probably benign	Het
Chil6	T	A	3: 106,301,659 (GRCm39)	Y147F	probably damaging	Het
Cluh	C	T	11: 74,552,772 (GRCm39)	R606C	probably damaging	Het
Cmtr1	A	G	17: 29,909,302 (GRCm39)	T404A	possibly damaging	Het
Cnot1	T	C	8: 96,467,636 (GRCm39)	N1499S	probably damaging	Het
Dmkn	T	C	7: 30,463,529 (GRCm39)	S61P	probably damaging	Het
Dmxl1	T	C	18: 50,003,990 (GRCm39)	C872R	probably benign	Het
Dnah3	A	G	7: 119,620,169 (GRCm39)	Y1587H	probably damaging	Het
Dsc2	A	T	18: 20,183,199 (GRCm39)	V73D	probably damaging	Het
F5	A	T	1: 164,019,601 (GRCm39)	Y692F	possibly damaging	Het
Fam184a	A	T	10: 53,550,670 (GRCm39)	L80I	probably damaging	Het
Foxj2	A	G	6: 122,810,833 (GRCm39)	H271R	probably benign	Het
Grm7	A	G	6: 111,057,404 (GRCm39)	T335A	probably damaging	Het
Hspa9	A	G	18: 35,071,734 (GRCm39)	L622P	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcnd3	T	A	3: 105,574,244 (GRCm39)		probably benign	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,326,184 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrch4	C	G	5: 137,635,113 (GRCm39)	N237K	probably damaging	Het
Lss	T	G	10: 76,388,760 (GRCm39)		probably null	Het
Map6	T	C	7: 98,985,859 (GRCm39)	F588L	probably benign	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Med13	A	T	11: 86,219,391 (GRCm39)	S352T	probably benign	Het
Mettl16	T	A	11: 74,707,766 (GRCm39)	V320E	probably benign	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Nup188	T	A	2: 30,194,143 (GRCm39)	D149E	probably damaging	Het
Ogfrl1	A	G	1: 23,418,130 (GRCm39)	S83P	probably damaging	Het
Or52l1	T	A	7: 104,829,779 (GRCm39)	H262L	probably damaging	Het
Or5m13	T	A	2: 85,748,480 (GRCm39)	D70E	probably damaging	Het
Or8k36-ps1	T	A	2: 86,437,364 (GRCm39)	I184F	unknown	Het
Or9m1	T	C	2: 87,733,915 (GRCm39)	Y35C	probably damaging	Het
Pafah1b3	C	T	7: 24,994,764 (GRCm39)	R98Q	probably damaging	Het
Pde6b	A	T	5: 108,571,357 (GRCm39)	K437*	probably null	Het
Ppp1r12b	A	T	1: 134,762,130 (GRCm39)		probably benign	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Pramel34	T	C	5: 93,786,784 (GRCm39)		probably benign	Het
Prdm9	T	C	17: 15,782,679 (GRCm39)	Q104R	possibly damaging	Het
Rgs22	A	T	15: 36,050,391 (GRCm39)		probably null	Het
Rnf14	C	T	18: 38,441,441 (GRCm39)	P277L	probably damaging	Het
Robo4	T	C	9: 37,316,102 (GRCm39)	S258P	probably benign	Het
Sfrp1	T	A	8: 23,907,420 (GRCm39)	F207I	probably damaging	Het
Sgms1	A	G	19: 32,137,087 (GRCm39)	S160P	probably damaging	Het
Sil1	T	C	18: 35,402,755 (GRCm39)	K263R	probably benign	Het
St14	A	G	9: 31,008,847 (GRCm39)		probably null	Het
Syne2	A	G	12: 75,955,905 (GRCm39)		probably benign	Het
Tbc1d9	T	C	8: 83,995,835 (GRCm39)	S1013P	probably benign	Het
Tent5b	C	T	4: 133,207,749 (GRCm39)	R47W	possibly damaging	Het
Tmem67	T	C	4: 12,070,471 (GRCm39)	S352G	probably benign	Het
Trib2	C	A	12: 15,843,795 (GRCm39)	K282N	possibly damaging	Het
Trnau1ap	T	C	4: 132,054,482 (GRCm39)		probably benign	Het
Trpm4	T	C	7: 44,958,054 (GRCm39)	D952G	probably damaging	Het
Unc93b1	A	G	19: 3,992,762 (GRCm39)	N305D	possibly damaging	Het
Vmn2r48	T	A	7: 9,676,251 (GRCm39)	H410L	probably damaging	Het
Wfs1	T	C	5: 37,132,931 (GRCm39)	N116S	probably benign	Het
Wif1	A	T	10: 120,935,684 (GRCm39)	H333L	probably benign	Het
Zfp109	T	C	7: 23,928,162 (GRCm39)	T416A	possibly damaging	Het
Zfp808	T	A	13: 62,320,444 (GRCm39)	C558S	probably damaging	Het
Zpbp	T	C	11: 11,409,734 (GRCm39)	D116G	possibly damaging	Het

Other mutations in Usp32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00529:Usp32	APN	11	84,885,252 (GRCm39)	missense	probably damaging	1.00
IGL00701:Usp32	APN	11	84,949,951 (GRCm39)	splice site	probably null
IGL00848:Usp32	APN	11	84,942,007 (GRCm39)	splice site	probably benign
IGL00934:Usp32	APN	11	84,897,902 (GRCm39)	missense	probably damaging	1.00
IGL01019:Usp32	APN	11	84,930,091 (GRCm39)	missense	probably damaging	0.97
IGL01302:Usp32	APN	11	84,879,308 (GRCm39)	missense	probably benign	0.05
IGL01444:Usp32	APN	11	84,949,990 (GRCm39)	missense	probably damaging	0.97
IGL01575:Usp32	APN	11	84,913,628 (GRCm39)	missense	probably damaging	1.00
IGL01981:Usp32	APN	11	84,927,350 (GRCm39)	missense	probably benign	0.02
IGL02118:Usp32	APN	11	84,923,003 (GRCm39)	nonsense	probably null
IGL02159:Usp32	APN	11	84,896,628 (GRCm39)	splice site	probably null
IGL02227:Usp32	APN	11	84,877,307 (GRCm39)	missense	probably damaging	1.00
IGL02363:Usp32	APN	11	84,935,613 (GRCm39)	missense	probably benign	0.01
IGL02524:Usp32	APN	11	84,900,837 (GRCm39)	nonsense	probably null
IGL02613:Usp32	APN	11	84,930,896 (GRCm39)	missense	probably damaging	0.99
IGL02720:Usp32	APN	11	84,897,817 (GRCm39)	critical splice donor site	probably null
IGL02738:Usp32	APN	11	84,974,632 (GRCm39)	missense	probably damaging	1.00
IGL02929:Usp32	APN	11	84,879,198 (GRCm39)	missense	probably benign	0.01
IGL03303:Usp32	APN	11	84,913,658 (GRCm39)	missense	probably damaging	1.00
BB010:Usp32	UTSW	11	84,897,885 (GRCm39)	missense	probably damaging	1.00
BB020:Usp32	UTSW	11	84,897,885 (GRCm39)	missense	probably damaging	1.00
PIT4812001:Usp32	UTSW	11	84,900,900 (GRCm39)	missense	probably damaging	1.00
R0026:Usp32	UTSW	11	84,922,900 (GRCm39)	missense	possibly damaging	0.48
R0295:Usp32	UTSW	11	84,944,518 (GRCm39)	missense	probably damaging	0.98
R1320:Usp32	UTSW	11	84,908,619 (GRCm39)	missense	probably damaging	0.98
R1712:Usp32	UTSW	11	84,933,406 (GRCm39)	missense	probably benign	0.12
R1922:Usp32	UTSW	11	84,897,830 (GRCm39)	nonsense	probably null
R1973:Usp32	UTSW	11	84,994,757 (GRCm39)	missense	probably benign	0.09
R2010:Usp32	UTSW	11	84,930,830 (GRCm39)	missense	probably damaging	0.98
R2082:Usp32	UTSW	11	84,921,338 (GRCm39)	missense	probably damaging	0.99
R2355:Usp32	UTSW	11	84,896,735 (GRCm39)	missense	probably benign	0.34
R3147:Usp32	UTSW	11	84,919,913 (GRCm39)	missense	probably damaging	1.00
R3160:Usp32	UTSW	11	84,916,362 (GRCm39)	missense	probably damaging	0.97
R3162:Usp32	UTSW	11	84,916,362 (GRCm39)	missense	probably damaging	0.97
R3716:Usp32	UTSW	11	84,933,389 (GRCm39)	missense	probably damaging	1.00
R3816:Usp32	UTSW	11	84,885,210 (GRCm39)	critical splice donor site	probably null
R3870:Usp32	UTSW	11	84,897,881 (GRCm39)	nonsense	probably null
R3871:Usp32	UTSW	11	84,971,982 (GRCm39)	missense	probably null	0.81
R4041:Usp32	UTSW	11	84,908,565 (GRCm39)	missense	probably benign	0.40
R4079:Usp32	UTSW	11	84,930,055 (GRCm39)	missense	probably damaging	0.98
R4332:Usp32	UTSW	11	84,994,804 (GRCm39)	missense	possibly damaging	0.79
R4396:Usp32	UTSW	11	84,944,801 (GRCm39)	missense	probably benign
R4580:Usp32	UTSW	11	84,949,953 (GRCm39)	critical splice donor site	probably null
R4620:Usp32	UTSW	11	84,949,953 (GRCm39)	critical splice donor site	probably null
R4744:Usp32	UTSW	11	84,885,219 (GRCm39)	missense	probably damaging	1.00
R4909:Usp32	UTSW	11	84,946,598 (GRCm39)	nonsense	probably null
R5111:Usp32	UTSW	11	84,968,157 (GRCm39)	missense	possibly damaging	0.95
R5213:Usp32	UTSW	11	84,913,085 (GRCm39)	missense	probably damaging	1.00
R5308:Usp32	UTSW	11	84,908,544 (GRCm39)	missense	probably benign	0.12
R5381:Usp32	UTSW	11	84,949,953 (GRCm39)	critical splice donor site	probably benign
R5538:Usp32	UTSW	11	84,908,612 (GRCm39)	missense	possibly damaging	0.65
R5659:Usp32	UTSW	11	84,968,240 (GRCm39)	missense	possibly damaging	0.94
R6006:Usp32	UTSW	11	84,883,277 (GRCm39)	critical splice donor site	probably null
R6011:Usp32	UTSW	11	84,922,923 (GRCm39)	missense	possibly damaging	0.70
R6029:Usp32	UTSW	11	84,916,408 (GRCm39)	missense	probably damaging	0.99
R6074:Usp32	UTSW	11	84,885,399 (GRCm39)	missense	probably benign	0.00
R6331:Usp32	UTSW	11	84,877,402 (GRCm39)	missense	possibly damaging	0.92
R6353:Usp32	UTSW	11	84,913,107 (GRCm39)	missense	probably benign
R6714:Usp32	UTSW	11	84,917,696 (GRCm39)	missense	probably damaging	0.99
R6778:Usp32	UTSW	11	84,916,512 (GRCm39)	missense	probably benign	0.00
R6988:Usp32	UTSW	11	84,900,969 (GRCm39)	missense	probably benign	0.35
R6992:Usp32	UTSW	11	84,922,914 (GRCm39)	missense	probably damaging	0.99
R7182:Usp32	UTSW	11	84,930,996 (GRCm39)	missense	probably benign	0.34
R7186:Usp32	UTSW	11	84,942,060 (GRCm39)	missense	probably benign	0.45
R7198:Usp32	UTSW	11	84,913,681 (GRCm39)	frame shift	probably null
R7201:Usp32	UTSW	11	84,913,681 (GRCm39)	frame shift	probably null
R7469:Usp32	UTSW	11	84,879,379 (GRCm39)	missense	possibly damaging	0.94
R7502:Usp32	UTSW	11	84,913,724 (GRCm39)	missense	possibly damaging	0.48
R7513:Usp32	UTSW	11	84,917,938 (GRCm39)	nonsense	probably null
R7629:Usp32	UTSW	11	84,910,681 (GRCm39)	frame shift	probably null
R7703:Usp32	UTSW	11	84,968,153 (GRCm39)	missense	probably damaging	0.99
R7741:Usp32	UTSW	11	84,878,107 (GRCm39)	missense	probably damaging	0.99
R7765:Usp32	UTSW	11	84,885,234 (GRCm39)	missense	probably damaging	1.00
R7933:Usp32	UTSW	11	84,897,885 (GRCm39)	missense	probably damaging	1.00
R7973:Usp32	UTSW	11	84,913,634 (GRCm39)	missense	probably damaging	0.99
R7989:Usp32	UTSW	11	84,925,126 (GRCm39)	missense
R7998:Usp32	UTSW	11	84,885,252 (GRCm39)	missense	probably damaging	1.00
R8292:Usp32	UTSW	11	84,968,227 (GRCm39)	missense	probably damaging	0.99
R8305:Usp32	UTSW	11	84,923,011 (GRCm39)	missense	possibly damaging	0.83
R8548:Usp32	UTSW	11	84,908,653 (GRCm39)	missense	possibly damaging	0.52
R8924:Usp32	UTSW	11	84,916,370 (GRCm39)	missense	probably damaging	0.98
R9002:Usp32	UTSW	11	84,944,777 (GRCm39)	missense	probably damaging	0.96
R9145:Usp32	UTSW	11	84,913,118 (GRCm39)	missense	probably damaging	1.00
R9209:Usp32	UTSW	11	84,930,838 (GRCm39)	missense	probably damaging	0.98
R9211:Usp32	UTSW	11	84,913,559 (GRCm39)	missense	probably damaging	1.00
R9296:Usp32	UTSW	11	84,908,478 (GRCm39)	missense	probably damaging	1.00
R9310:Usp32	UTSW	11	84,942,028 (GRCm39)	missense	probably benign	0.29
R9417:Usp32	UTSW	11	84,885,369 (GRCm39)	missense	probably damaging	1.00
R9514:Usp32	UTSW	11	84,913,560 (GRCm39)	missense	probably damaging	0.99
R9652:Usp32	UTSW	11	84,921,317 (GRCm39)	missense	probably damaging	0.97
R9723:Usp32	UTSW	11	84,935,536 (GRCm39)	nonsense	probably null
R9757:Usp32	UTSW	11	84,968,155 (GRCm39)	nonsense	probably null
X0028:Usp32	UTSW	11	84,883,432 (GRCm39)	missense	probably benign	0.05
Z1177:Usp32	UTSW	11	84,879,438 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTAGCAATGCTAGTAGTCAAAGAG -3'
(R):5'- ATGGAATAAGGGCCTATCTCTTG -3'

Sequencing Primer
(F):5'- GGGTTTACTCTTCTTACAAGAAAAGC -3'
(R):5'- CTCTTGATAGGTAGTTTTGTGCCCAC -3'

Posted On

2016-06-06