Mutagenetix > Incidental Mutation

Incidental Mutation 'R7741:Usp32'

596563

Institutional Source

Beutler Lab

Gene Symbol

Usp32

Ensembl Gene

ENSMUSG00000000804

Gene Name

ubiquitin specific peptidase 32

Synonyms

6430526O11Rik, 2900074J03Rik

MMRRC Submission

045797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7741 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84984442-85140161 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84987281 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1543 (D1543E)

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: D1543E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: D1543E

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: ENSMUST00000173156

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,454,717 (GRCm38)	P118S	probably damaging	Het
Adgrl1	T	A	8: 83,929,714 (GRCm38)	D215E	probably damaging	Het
Afap1l2	T	C	19: 56,914,482 (GRCm38)	D755G	probably damaging	Het
Akr1c18	T	A	13: 4,144,333 (GRCm38)	D109V	possibly damaging	Het
Brdt	G	A	5: 107,358,886 (GRCm38)	R445H	probably benign	Het
Capn2	C	A	1: 182,479,723 (GRCm38)	E517*	probably null	Het
Celsr1	A	T	15: 85,979,102 (GRCm38)	V1243E	possibly damaging	Het
Cenpe	C	G	3: 135,247,335 (GRCm38)		probably null	Het
Cep135	A	G	5: 76,630,970 (GRCm38)	E748G	probably damaging	Het
Cfap119	C	A	7: 127,587,987 (GRCm38)	V35L	probably benign	Het
Cfap57	C	T	4: 118,614,931 (GRCm38)	V84I	probably benign	Het
Col6a1	C	A	10: 76,709,909 (GRCm38)	A910S	unknown	Het
Cyp4a14	T	A	4: 115,489,959 (GRCm38)		probably null	Het
Dot1l	C	T	10: 80,783,544 (GRCm38)	R412W	probably damaging	Het
Dyrk2	T	C	10: 118,859,689 (GRCm38)	T555A	probably benign	Het
Foxn3	T	C	12: 99,196,328 (GRCm38)	N438S	probably damaging	Het
Gdpd5	T	C	7: 99,453,794 (GRCm38)	F320S	probably damaging	Het
Grn	A	G	11: 102,435,734 (GRCm38)	H413R	probably damaging	Het
Gstm7	A	T	3: 107,931,647 (GRCm38)	M3K	possibly damaging	Het
Il17rd	A	G	14: 27,100,336 (GRCm38)	E673G	probably damaging	Het
Klhl29	T	C	12: 5,137,500 (GRCm38)	D288G	possibly damaging	Het
Klk11	G	A	7: 43,776,997 (GRCm38)	A79T	probably benign	Het
Kmt2a	A	G	9: 44,808,062 (GRCm38)	V3914A	unknown	Het
Map2k2	T	C	10: 81,121,043 (GRCm38)	V307A	probably benign	Het
Mst1r	G	T	9: 107,907,120 (GRCm38)		probably benign	Het
Nr3c2	A	G	8: 77,210,646 (GRCm38)	E834G	probably damaging	Het
Oga	A	T	19: 45,776,062 (GRCm38)	L213H	probably damaging	Het
Ogfod3	T	G	11: 121,183,536 (GRCm38)		probably null	Het
Or5b102	A	T	19: 13,064,059 (GRCm38)	Y216F	probably damaging	Het
Or8d2	T	C	9: 38,848,318 (GRCm38)	L68P	probably damaging	Het
Plscr4	A	T	9: 92,482,640 (GRCm38)		probably null	Het
Pou2f1	A	G	1: 165,875,875 (GRCm38)	S749P	probably damaging	Het
Ppp4r3b	T	G	11: 29,205,701 (GRCm38)	L556V	possibly damaging	Het
Psd4	T	G	2: 24,401,096 (GRCm38)		probably null	Het
Rbbp4	T	C	4: 129,334,563 (GRCm38)	D33G	probably damaging	Het
Rif1	T	A	2: 52,085,141 (GRCm38)	M354K	probably damaging	Het
Rmi1	A	G	13: 58,409,253 (GRCm38)	K439E	probably benign	Het
Scgb2b7	A	G	7: 31,705,029 (GRCm38)		probably null	Het
Sdc1	A	G	12: 8,791,370 (GRCm38)	D237G	probably benign	Het
Sel1l3	T	C	5: 53,200,251 (GRCm38)	Y133C	probably damaging	Het
Snx31	A	G	15: 36,523,441 (GRCm38)		probably null	Het
Snx7	A	G	3: 117,838,839 (GRCm38)	F201S	probably damaging	Het
Tas2r131	C	T	6: 132,957,475 (GRCm38)	V124I	possibly damaging	Het
Tbx20	A	T	9: 24,740,285 (GRCm38)		probably null	Het
Topbp1	A	T	9: 103,320,557 (GRCm38)	N445I	probably damaging	Het
Tpx2	T	A	2: 152,867,343 (GRCm38)	I31K	possibly damaging	Het
Trpv3	T	A	11: 73,288,262 (GRCm38)	V499E	probably damaging	Het
Tshr	G	A	12: 91,533,969 (GRCm38)	W258*	probably null	Het
Usp39	A	G	6: 72,338,538 (GRCm38)		probably benign	Het
Vac14	T	C	8: 110,634,388 (GRCm38)	S197P	probably damaging	Het
Vars2	A	G	17: 35,660,943 (GRCm38)	S497P	probably damaging	Het
Zfp462	C	A	4: 55,008,637 (GRCm38)	P201Q	probably benign	Het
Zkscan5	A	G	5: 145,221,037 (GRCm38)	Q783R	possibly 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
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
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'- CCAGATGACAGGACATGACC -3'
(R):5'- CTAGGTGGTCATCTTGCTTAGATC -3'

Sequencing Primer
(F):5'- GATGACAGGACATGACCAACTC -3'
(R):5'- AGATCTTAGCACTGTGCCTTG -3'

Posted On

2019-11-26