Mutagenetix > Incidental Mutation

Incidental Mutation 'R5111:Usp32'

393869

Institutional Source

Beutler Lab

Gene Symbol

Usp32

Ensembl Gene

ENSMUSG00000000804

Gene Name

ubiquitin specific peptidase 32

Synonyms

2900074J03Rik, 6430526O11Rik

MMRRC Submission

042699-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5111 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84875268-85030987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84968157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 169 (Y169N)

Ref Sequence

ENSEMBL: ENSMUSP00000103710 (fasta)

Gene Model

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

AlphaFold

F8VPZ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108075
AA Change: Y169N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: Y169N

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

noncoding transcript
Transcript: ENSMUST00000121509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173271

Meta Mutation Damage Score

0.0596

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	A	T	7: 83,800,646 (GRCm39)	L136*	probably null	Het
Ankrd17	A	T	5: 90,390,858 (GRCm39)	S2271T	possibly damaging	Het
Arhgef10	A	G	8: 14,982,408 (GRCm39)	D179G	probably benign	Het
Bcan	G	T	3: 87,901,514 (GRCm39)	S396Y	probably damaging	Het
Btbd3	T	A	2: 138,120,829 (GRCm39)	M1K	probably null	Het
Capns1	A	G	7: 29,891,944 (GRCm39)	V106A	probably benign	Het
Ccnjl	A	G	11: 43,447,544 (GRCm39)	T76A	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Col6a6	C	T	9: 105,586,673 (GRCm39)	V1783I	possibly damaging	Het
Crisp3	T	C	17: 40,536,695 (GRCm39)	T207A	possibly damaging	Het
Crxos	G	A	7: 15,630,142 (GRCm39)		probably benign	Het
Csf3r	T	C	4: 125,923,861 (GRCm39)		probably null	Het
Cyp2a12	A	G	7: 26,736,046 (GRCm39)	Y485C	possibly damaging	Het
Echdc2	A	T	4: 108,026,994 (GRCm39)		probably benign	Het
Elp3	A	C	14: 65,797,685 (GRCm39)	Y329D	probably damaging	Het
Fbxw16	T	C	9: 109,265,796 (GRCm39)	D341G	probably benign	Het
H2-Ab1	T	A	17: 34,486,456 (GRCm39)	S172T	probably damaging	Het
Hyal2	T	C	9: 107,448,310 (GRCm39)	V321A	probably benign	Het
Ighv6-3	A	T	12: 114,355,394 (GRCm39)	S98R	probably benign	Het
Kank3	A	G	17: 34,037,155 (GRCm39)	E153G	possibly damaging	Het
Klrb1c	C	T	6: 128,762,968 (GRCm39)	R83H	probably benign	Het
Krtap16-1	T	C	11: 99,877,378 (GRCm39)	K9E	possibly damaging	Het
Liph	G	A	16: 21,802,820 (GRCm39)	S83F	probably damaging	Het
Lnpep	A	G	17: 17,798,872 (GRCm39)	I261T	possibly damaging	Het
Mdm2	A	T	10: 117,527,126 (GRCm39)	V273D	possibly damaging	Het
Mterf1a	A	G	5: 3,941,860 (GRCm39)	S3P	probably benign	Het
Myt1	A	G	2: 181,437,678 (GRCm39)	T172A	probably benign	Het
Nufip2	T	A	11: 77,582,669 (GRCm39)	S194R	probably benign	Het
Nusap1	T	A	2: 119,460,837 (GRCm39)	L110*	probably null	Het
Palb2	A	T	7: 121,716,528 (GRCm39)	C488*	probably null	Het
Pcdhac1	A	T	18: 37,224,558 (GRCm39)	N457I	probably damaging	Het
Per1	A	T	11: 68,991,612 (GRCm39)	S49C	probably damaging	Het
Ppargc1b	A	T	18: 61,443,558 (GRCm39)	I535N	probably damaging	Het
Rb1cc1	T	C	1: 6,284,858 (GRCm39)		probably benign	Het
Rpap1	A	T	2: 119,601,728 (GRCm39)	L744Q	probably damaging	Het
Sdk1	A	G	5: 142,113,600 (GRCm39)	E1549G	probably damaging	Het
Tnr	C	T	1: 159,713,798 (GRCm39)	T742I	probably benign	Het
Trp53bp1	A	T	2: 121,041,868 (GRCm39)	H1229Q	probably damaging	Het
Unc80	A	G	1: 66,567,154 (GRCm39)	H920R	possibly damaging	Het
Urb1	A	C	16: 90,548,905 (GRCm39)	S2268A	probably benign	Het
Vmn2r18	A	T	5: 151,485,913 (GRCm39)	M527K	possibly damaging	Het
Vmn2r93	A	T	17: 18,546,326 (GRCm39)	I733F	probably damaging	Het
Vstm2l	A	G	2: 157,777,389 (GRCm39)	D89G	probably damaging	Het
Zdhhc8	G	T	16: 18,044,612 (GRCm39)	Q303K	probably benign	Het
Zfand2a	A	G	5: 139,459,509 (GRCm39)	V159A	probably benign	Het
Zswim6	A	G	13: 107,865,170 (GRCm39)		noncoding transcript	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
R5056:Usp32	UTSW	11	84,917,621 (GRCm39)	missense	probably benign	0.07
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'- AAAGGGCTATTCTTTCCATACTCC -3'
(R):5'- TGGGGAAATGTCAACCACTAATAC -3'

Sequencing Primer
(F):5'- CAGCATCTCACTGATTATTTACTGG -3'
(R):5'- CAGGCTCTAAGTACTTTACCT -3'

Posted On

2016-06-15