Mutagenetix > Incidental Mutation

Incidental Mutation 'R2082:Usp32'

230096

Institutional Source

Beutler Lab

Gene Symbol

Usp32

Ensembl Gene

ENSMUSG00000000804

Gene Name

ubiquitin specific peptidase 32

Synonyms

2900074J03Rik, 6430526O11Rik

MMRRC Submission

040087-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84875268-85030987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84921338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 692 (I692N)

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 damaging
Transcript: ENSMUST00000108075
AA Change: I692N

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

SMART Domains

Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: I692N

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

unknown
Transcript: ENSMUST00000174602
AA Change: I196N

SMART Domains

Protein: ENSMUSP00000134476
Gene: ENSMUSG00000000804
AA Change: I196N

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	A	2: 30,686,391 (GRCm39)		probably null	Het
4933427I04Rik	A	G	4: 123,754,769 (GRCm39)	I228V	probably benign	Het
Aco2	T	C	15: 81,797,896 (GRCm39)	W657R	possibly damaging	Het
Acsm2	T	A	7: 119,179,857 (GRCm39)	H333Q	probably benign	Het
Adamts18	C	T	8: 114,501,965 (GRCm39)	V299I	probably damaging	Het
Adat2	G	A	10: 13,435,907 (GRCm39)	C84Y	probably damaging	Het
Arhgef11	C	T	3: 87,633,303 (GRCm39)	T690I	possibly damaging	Het
Cachd1	A	G	4: 100,860,155 (GRCm39)	D1242G	probably damaging	Het
Casp14	A	G	10: 78,550,867 (GRCm39)	M106T	probably benign	Het
Ccdc69	T	A	11: 54,943,215 (GRCm39)	I130F	probably damaging	Het
Cdk9	A	G	2: 32,599,513 (GRCm39)	L189P	probably damaging	Het
Cfhr1	C	T	1: 139,478,624 (GRCm39)	V249I	possibly damaging	Het
Chst1	T	C	2: 92,444,335 (GRCm39)	V269A	possibly damaging	Het
Col18a1	G	T	10: 76,895,127 (GRCm39)	P1178Q	probably damaging	Het
Col6a1	A	G	10: 76,545,430 (GRCm39)	L1014P	probably damaging	Het
Crisp3	T	C	17: 40,536,751 (GRCm39)	Y188C	probably damaging	Het
Dse	G	A	10: 34,031,936 (GRCm39)	R363C	probably damaging	Het
Exoc5	T	C	14: 49,253,044 (GRCm39)	I525V	probably benign	Het
Fech	A	T	18: 64,591,260 (GRCm39)	I388N	probably damaging	Het
Fmnl1	T	C	11: 103,082,851 (GRCm39)	L363P	probably damaging	Het
Gm10842	T	A	11: 105,037,909 (GRCm39)	L64Q	unknown	Het
Gm8225	C	A	17: 26,762,670 (GRCm39)	P287Q	possibly damaging	Het
Hsp90aa1	A	T	12: 110,659,261 (GRCm39)	L512H	probably damaging	Het
Ifi30	T	C	8: 71,216,373 (GRCm39)		probably benign	Het
Iqsec1	A	T	6: 90,671,556 (GRCm39)	D115E	probably damaging	Het
Kcnu1	T	A	8: 26,411,577 (GRCm39)	L174H	probably damaging	Het
Krt10	A	G	11: 99,279,701 (GRCm39)	V153A	probably damaging	Het
Krt18	G	A	15: 101,939,455 (GRCm39)		probably null	Het
Micu1	A	G	10: 59,699,129 (GRCm39)	T469A	probably benign	Het
Mtss2	T	C	8: 111,452,889 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,786,079 (GRCm39)	F1253L	probably damaging	Het
N4bp2	A	T	5: 65,964,908 (GRCm39)	T986S	probably damaging	Het
Naip6	C	A	13: 100,440,852 (GRCm39)		probably null	Het
Nphp4	G	A	4: 152,643,821 (GRCm39)	V1117M	probably benign	Het
Oca2	C	A	7: 55,946,885 (GRCm39)	Q305K	probably benign	Het
Or56b34	C	T	7: 104,937,710 (GRCm39)	Q137*	probably null	Het
Or5k3	T	A	16: 58,969,248 (GRCm39)	F12I	probably damaging	Het
Or7g27	G	A	9: 19,250,574 (GRCm39)	V273I	probably benign	Het
P2rx7	A	T	5: 122,782,158 (GRCm39)	N8Y	possibly damaging	Het
Pag1	A	T	3: 9,764,545 (GRCm39)	S203T	probably damaging	Het
Pfn4	T	A	12: 4,825,439 (GRCm39)		probably null	Het
Pip4k2c	T	C	10: 127,034,958 (GRCm39)	D414G	probably damaging	Het
Pkp1	T	G	1: 135,812,714 (GRCm39)	Q329P	possibly damaging	Het
Polrmt	A	T	10: 79,579,346 (GRCm39)	I135N	probably benign	Het
Ppa2	G	A	3: 133,076,178 (GRCm39)	R269H	probably benign	Het
Ppp3cb	T	C	14: 20,558,746 (GRCm39)	T439A	possibly damaging	Het
Prkdc	A	G	16: 15,533,827 (GRCm39)	Y1555C	probably damaging	Het
Ptprh	T	C	7: 4,553,774 (GRCm39)	D859G	probably damaging	Het
Sema5a	T	A	15: 32,619,002 (GRCm39)	M510K	probably benign	Het
Slc22a16	A	G	10: 40,461,335 (GRCm39)	E379G	probably benign	Het
Slc30a5	C	A	13: 100,943,041 (GRCm39)		probably null	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tbc1d9	A	T	8: 83,997,616 (GRCm39)	S1058C	probably damaging	Het
Tet2	A	G	3: 133,191,488 (GRCm39)	L982P	possibly damaging	Het
Tmem101	G	T	11: 102,044,203 (GRCm39)	T228K	probably benign	Het
Tshz2	G	T	2: 169,728,135 (GRCm39)	K441N	probably damaging	Het
Upf1	A	T	8: 70,794,222 (GRCm39)	I228N	probably damaging	Het
Vmn2r117	A	G	17: 23,679,230 (GRCm39)	S665P	possibly damaging	Het
Vps13b	T	C	15: 35,910,892 (GRCm39)	V3552A	possibly damaging	Het
Vps35	A	T	8: 85,990,094 (GRCm39)	M638K	possibly damaging	Het
Vps41	T	G	13: 19,036,521 (GRCm39)	I645S	probably benign	Het
Zfp703	T	C	8: 27,469,016 (GRCm39)	S227P	probably benign	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
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
R5056:Usp32	UTSW	11	84,917,621 (GRCm39)	missense	probably benign	0.07
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'- TCTTCCTCGGTTAGCCTAAGG -3'
(R):5'- CCTTCACTTTGGCACCTAAACTATAG -3'

Sequencing Primer
(F):5'- TAGTTCAAGGTCTACAGCCTGGAC -3'
(R):5'- TGGCACCTAAACTATAGATTTGAAC -3'

Posted On

2014-09-18