Mutagenetix > Incidental Mutation

Incidental Mutation 'R6353:Usp32'

512306

Institutional Source

Beutler Lab

Gene Symbol

Usp32

Ensembl Gene

ENSMUSG00000000804

Gene Name

ubiquitin specific peptidase 32

Synonyms

6430526O11Rik, 2900074J03Rik

MMRRC Submission

044505-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84984442-85140161 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85022281 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 934 (I934V)

Ref Sequence

ENSEMBL: ENSMUSP00000103710 (fasta)

Gene Model

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

AlphaFold

F8VPZ3

Predicted Effect

unknown
Transcript: ENSMUST00000000821
AA Change: I232V

SMART Domains

Protein: ENSMUSP00000000821
Gene: ENSMUSG00000000804
AA Change: I232V

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: I934V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: I934V

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	C	A	9: 53,414,342 (GRCm38)	Q60K	probably benign	Het
Aamp	T	C	1: 74,280,828 (GRCm38)	D397G	probably benign	Het
Aco1	G	A	4: 40,186,367 (GRCm38)	R593Q	probably benign	Het
Acta1	T	C	8: 123,893,687 (GRCm38)	E4G	probably benign	Het
Apob	A	T	12: 8,009,421 (GRCm38)	K2601N	probably damaging	Het
Arpin	C	A	7: 79,935,345 (GRCm38)		probably benign	Het
Asnsd1	T	C	1: 53,347,779 (GRCm38)	I230V	probably benign	Het
Baiap2l1	C	T	5: 144,282,088 (GRCm38)	E237K	possibly damaging	Het
Chek1	T	C	9: 36,723,959 (GRCm38)	K43E	probably benign	Het
Clec2g	T	A	6: 128,982,932 (GRCm38)		probably null	Het
Cnot10	A	G	9: 114,597,546 (GRCm38)	L646P	probably damaging	Het
Cyp2j9	T	C	4: 96,585,898 (GRCm38)	T102A	probably benign	Het
Dnase1l2	A	T	17: 24,442,245 (GRCm38)	L30Q	probably damaging	Het
Edc3	T	C	9: 57,716,237 (GRCm38)	S152P	probably benign	Het
Fam198b	A	T	3: 79,941,340 (GRCm38)	R464S	probably damaging	Het
Gm5538	A	T	3: 59,752,108 (GRCm38)	L327F	probably damaging	Het
Gpr160	A	T	3: 30,896,022 (GRCm38)	D81V	probably damaging	Het
Intu	A	T	3: 40,653,708 (GRCm38)	D32V	probably damaging	Het
Itga5	T	C	15: 103,352,523 (GRCm38)	E512G	probably damaging	Het
Khnyn	T	C	14: 55,894,303 (GRCm38)	F561L	possibly damaging	Het
Kmt2e	T	A	5: 23,493,245 (GRCm38)	V645E	probably damaging	Het
Mcoln3	T	C	3: 146,131,154 (GRCm38)	F247S	probably damaging	Het
Mettl11b	A	G	1: 163,704,111 (GRCm38)	Y158H	possibly damaging	Het
Nek9	G	A	12: 85,301,829 (GRCm38)	T977I	probably damaging	Het
Nphs1	A	G	7: 30,474,544 (GRCm38)	T1015A	probably damaging	Het
Nudcd1	T	C	15: 44,420,762 (GRCm38)	Y76C	probably damaging	Het
Olfr441	C	A	6: 43,116,136 (GRCm38)	Y131*	probably null	Het
Olfr907	T	C	9: 38,498,816 (GRCm38)	I49T	probably benign	Het
Pgd	C	T	4: 149,160,752 (GRCm38)		probably null	Het
Prl7c1	A	G	13: 27,773,726 (GRCm38)	S244P	possibly damaging	Het
Rpap1	G	T	2: 119,776,896 (GRCm38)		probably null	Het
Rrp8	G	A	7: 105,734,118 (GRCm38)	R314*	probably null	Het
Smarca4	T	A	9: 21,679,149 (GRCm38)		probably null	Het
Stambpl1	A	G	19: 34,234,120 (GRCm38)		probably null	Het
Tmeff2	T	C	1: 51,181,826 (GRCm38)	V320A	probably damaging	Het
Top2b	A	G	14: 16,416,671 (GRCm38)	K83E	probably damaging	Het
Ttc39b	C	G	4: 83,230,493 (GRCm38)	V560L	probably benign	Het
Ttn	A	T	2: 76,841,809 (GRCm38)		probably benign	Het
Uxs1	T	C	1: 43,797,250 (GRCm38)	I122V	probably damaging	Het
Vmn1r168	A	G	7: 23,541,519 (GRCm38)	N267S	probably benign	Het
Vmn2r16	A	G	5: 109,340,253 (GRCm38)	N331D	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
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
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'- CTCTTTTCTGGTAGACAACATTTTCA -3'
(R):5'- TAAGCCAATCAGAAGTCTTTATCAGA -3'

Sequencing Primer
(F):5'- GAAGTACATAGTGAGCCTCTGACTC -3'
(R):5'- TGCTATTTGCAAGTCAGG -3'

Posted On

2018-04-27