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

6430526O11Rik, 2900074J03Rik

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

84984442-85140161 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85030512 bp (GRCm38)

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: 30,796,379 (GRCm38)		probably null	Het
4933427I04Rik	A	G	4: 123,860,976 (GRCm38)	I228V	probably benign	Het
Aco2	T	C	15: 81,913,695 (GRCm38)	W657R	possibly damaging	Het
Acsm2	T	A	7: 119,580,634 (GRCm38)	H333Q	probably benign	Het
Adamts18	C	T	8: 113,775,333 (GRCm38)	V299I	probably damaging	Het
Adat2	G	A	10: 13,560,163 (GRCm38)	C84Y	probably damaging	Het
Arhgef11	C	T	3: 87,725,996 (GRCm38)	T690I	possibly damaging	Het
Cachd1	A	G	4: 101,002,958 (GRCm38)	D1242G	probably damaging	Het
Casp14	A	G	10: 78,715,033 (GRCm38)	M106T	probably benign	Het
Ccdc69	T	A	11: 55,052,389 (GRCm38)	I130F	probably damaging	Het
Cdk9	A	G	2: 32,709,501 (GRCm38)	L189P	probably damaging	Het
Cfhr1	C	T	1: 139,550,886 (GRCm38)	V249I	possibly damaging	Het
Chst1	T	C	2: 92,613,990 (GRCm38)	V269A	possibly damaging	Het
Col18a1	G	T	10: 77,059,293 (GRCm38)	P1178Q	probably damaging	Het
Col6a1	A	G	10: 76,709,596 (GRCm38)	L1014P	probably damaging	Het
Crisp3	T	C	17: 40,225,860 (GRCm38)	Y188C	probably damaging	Het
Dse	G	A	10: 34,155,940 (GRCm38)	R363C	probably damaging	Het
Exoc5	T	C	14: 49,015,587 (GRCm38)	I525V	probably benign	Het
Fech	A	T	18: 64,458,189 (GRCm38)	I388N	probably damaging	Het
Fmnl1	T	C	11: 103,192,025 (GRCm38)	L363P	probably damaging	Het
Gm10842	T	A	11: 105,147,083 (GRCm38)	L64Q	unknown	Het
Gm8225	C	A	17: 26,543,696 (GRCm38)	P287Q	possibly damaging	Het
Hsp90aa1	A	T	12: 110,692,827 (GRCm38)	L512H	probably damaging	Het
Ifi30	T	C	8: 70,763,728 (GRCm38)		probably benign	Het
Iqsec1	A	T	6: 90,694,574 (GRCm38)	D115E	probably damaging	Het
Kcnu1	T	A	8: 25,921,549 (GRCm38)	L174H	probably damaging	Het
Krt10	A	G	11: 99,388,875 (GRCm38)	V153A	probably damaging	Het
Krt18	G	A	15: 102,031,020 (GRCm38)		probably null	Het
Micu1	A	G	10: 59,863,307 (GRCm38)	T469A	probably benign	Het
Mtss1l	T	C	8: 110,726,257 (GRCm38)		probably null	Het
Myo10	T	A	15: 25,785,993 (GRCm38)	F1253L	probably damaging	Het
N4bp2	A	T	5: 65,807,565 (GRCm38)	T986S	probably damaging	Het
Naip6	C	A	13: 100,304,344 (GRCm38)		probably null	Het
Nphp4	G	A	4: 152,559,364 (GRCm38)	V1117M	probably benign	Het
Oca2	C	A	7: 56,297,137 (GRCm38)	Q305K	probably benign	Het
Olfr195	T	A	16: 59,148,885 (GRCm38)	F12I	probably damaging	Het
Olfr688	C	T	7: 105,288,503 (GRCm38)	Q137*	probably null	Het
Olfr845	G	A	9: 19,339,278 (GRCm38)	V273I	probably benign	Het
P2rx7	A	T	5: 122,644,095 (GRCm38)	N8Y	possibly damaging	Het
Pag1	A	T	3: 9,699,485 (GRCm38)	S203T	probably damaging	Het
Pfn4	T	A	12: 4,775,439 (GRCm38)		probably null	Het
Pip4k2c	T	C	10: 127,199,089 (GRCm38)	D414G	probably damaging	Het
Pkp1	T	G	1: 135,884,976 (GRCm38)	Q329P	possibly damaging	Het
Polrmt	A	T	10: 79,743,512 (GRCm38)	I135N	probably benign	Het
Ppa2	G	A	3: 133,370,417 (GRCm38)	R269H	probably benign	Het
Ppp3cb	T	C	14: 20,508,678 (GRCm38)	T439A	possibly damaging	Het
Prkdc	A	G	16: 15,715,963 (GRCm38)	Y1555C	probably damaging	Het
Ptprh	T	C	7: 4,550,775 (GRCm38)	D859G	probably damaging	Het
Sema5a	T	A	15: 32,618,856 (GRCm38)	M510K	probably benign	Het
Slc22a16	A	G	10: 40,585,339 (GRCm38)	E379G	probably benign	Het
Slc30a5	C	A	13: 100,806,533 (GRCm38)		probably null	Het
Syce1	C	A	7: 140,779,896 (GRCm38)	L83F	probably damaging	Het
Tbc1d9	A	T	8: 83,270,987 (GRCm38)	S1058C	probably damaging	Het
Tet2	A	G	3: 133,485,727 (GRCm38)	L982P	possibly damaging	Het
Tmem101	G	T	11: 102,153,377 (GRCm38)	T228K	probably benign	Het
Tshz2	G	T	2: 169,886,215 (GRCm38)	K441N	probably damaging	Het
Upf1	A	T	8: 70,341,572 (GRCm38)	I228N	probably damaging	Het
Vmn2r117	A	G	17: 23,460,256 (GRCm38)	S665P	possibly damaging	Het
Vps13b	T	C	15: 35,910,746 (GRCm38)	V3552A	possibly damaging	Het
Vps35	A	T	8: 85,263,465 (GRCm38)	M638K	possibly damaging	Het
Vps41	T	G	13: 18,852,351 (GRCm38)	I645S	probably benign	Het
Zfp703	T	C	8: 26,978,988 (GRCm38)	S227P	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
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
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'- TCTTCCTCGGTTAGCCTAAGG -3'
(R):5'- CCTTCACTTTGGCACCTAAACTATAG -3'

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

Posted On

2014-09-18