Mutagenetix > Incidental Mutation

Incidental Mutation 'R9417:Usp32'

712126

Institutional Source

Beutler Lab

Gene Symbol

Usp32

Ensembl Gene

ENSMUSG00000000804

Gene Name

ubiquitin specific peptidase 32

Synonyms

6430526O11Rik, 2900074J03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9417 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84984442-85140161 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84994543 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1226 (R1226Q)

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: R1226Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: R1226Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	G	4: 88,867,965 (GRCm38)	Y139H	unknown	Het
5430419D17Rik	A	G	7: 131,250,489 (GRCm38)	D818G	possibly damaging	Het
Akr1b10	T	C	6: 34,394,092 (GRCm38)	V259A	probably benign	Het
Aldh5a1	A	T	13: 24,911,690 (GRCm38)	N481K	probably damaging	Het
Ankrd26	A	T	6: 118,527,764 (GRCm38)	M728K	possibly damaging	Het
Asic1	A	G	15: 99,692,524 (GRCm38)	M52V	probably benign	Het
Bean1	CT	C	8: 104,182,032 (GRCm38)		probably null	Het
C530008M17Rik	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 76,856,954 (GRCm38)		probably benign	Het
Cacna2d2	C	A	9: 107,515,490 (GRCm38)	Y544*	probably null	Het
Chd4	A	G	6: 125,120,725 (GRCm38)	N1403S	probably damaging	Het
Cldn4	G	T	5: 134,946,320 (GRCm38)	N142K	probably benign	Het
Dll1	T	C	17: 15,373,448 (GRCm38)	Y219C	probably damaging	Het
Dnah2	T	A	11: 69,436,164 (GRCm38)	I3539F	probably damaging	Het
Egfr	T	A	11: 16,875,067 (GRCm38)	L469*	probably null	Het
Elmo1	A	G	13: 20,572,403 (GRCm38)	N554D	possibly damaging	Het
Fam234a	A	C	17: 26,216,251 (GRCm38)	F306L	probably benign	Het
Fbl	G	A	7: 28,174,627 (GRCm38)	G45D	unknown	Het
Fbxw10	C	A	11: 62,862,696 (GRCm38)	C505*	probably null	Het
Ftcd	G	A	10: 76,581,319 (GRCm38)	G221S	probably damaging	Het
Gad1	A	G	2: 70,587,372 (GRCm38)	D305G	possibly damaging	Het
Gdpd4	A	G	7: 97,957,867 (GRCm38)	D16G	probably benign	Het
Gsdmc3	T	A	15: 63,866,814 (GRCm38)	D133V	possibly damaging	Het
Hpdl	T	C	4: 116,820,620 (GRCm38)	T215A	possibly damaging	Het
Igsf10	A	T	3: 59,329,105 (GRCm38)	N1218K	possibly damaging	Het
Isg20	C	T	7: 78,919,857 (GRCm38)	P192L	probably benign	Het
Itga7	C	T	10: 128,957,674 (GRCm38)	T126M	unknown	Het
Krr1	A	G	10: 111,977,121 (GRCm38)	I134V	probably benign	Het
Krt71	T	A	15: 101,738,296 (GRCm38)	T326S	probably benign	Het
Lamb1	T	A	12: 31,287,984 (GRCm38)	V480E	probably damaging	Het
Mmp19	T	A	10: 128,794,654 (GRCm38)	L102Q	possibly damaging	Het
Mtor	T	A	4: 148,538,319 (GRCm38)	L1952*	probably null	Het
Myo15	T	A	11: 60,487,417 (GRCm38)	V215E		Het
Nfs1	T	A	2: 156,123,931 (GRCm38)	K77*	probably null	Het
Olfr460	T	A	6: 40,572,162 (GRCm38)	Y259N		Het
Olfr593	A	T	7: 103,211,949 (GRCm38)	I30F	possibly damaging	Het
Pcdhga4	T	C	18: 37,687,507 (GRCm38)	F703S	probably damaging	Het
Pdzd7	A	G	19: 45,045,583 (GRCm38)	S21P	probably damaging	Het
Pitrm1	A	T	13: 6,567,358 (GRCm38)	I583F	possibly damaging	Het
Ppox	A	G	1: 171,280,281 (GRCm38)	L77P	unknown	Het
Ppp1r37	G	T	7: 19,535,733 (GRCm38)	R114S	probably damaging	Het
Ppp4r3b	T	C	11: 29,194,598 (GRCm38)	V316A	probably benign	Het
Ptprd	A	G	4: 75,947,098 (GRCm38)	I1214T	probably damaging	Het
Rasal3	A	G	17: 32,396,467 (GRCm38)	F466L	probably benign	Het
Ric8b	A	T	10: 84,925,583 (GRCm38)	D41V	probably benign	Het
Rin2	T	C	2: 145,844,793 (GRCm38)	S81P	probably benign	Het
Sft2d1	T	A	17: 8,323,307 (GRCm38)	C128S	probably damaging	Het
Skint1	T	C	4: 112,021,312 (GRCm38)	V147A	probably benign	Het
Slc9c1	T	C	16: 45,593,485 (GRCm38)	V992A	probably benign	Het
Sst	A	G	16: 23,889,737 (GRCm38)	S115P	probably damaging	Het
Sv2b	G	T	7: 75,120,024 (GRCm38)	S590Y	probably damaging	Het
Syne1	C	T	10: 5,132,021 (GRCm38)	V868I	probably benign	Het
Tex35	T	C	1: 157,107,219 (GRCm38)	I42V	possibly damaging	Het
Tlr2	T	C	3: 83,837,585 (GRCm38)	N397S	probably damaging	Het
Tmem202	A	G	9: 59,524,716 (GRCm38)		probably null	Het
Ttc26	T	C	6: 38,409,451 (GRCm38)	F369S	probably damaging	Het
Usp20	A	G	2: 30,983,018 (GRCm38)		probably null	Het
Usp47	C	T	7: 112,089,594 (GRCm38)	A736V	possibly damaging	Het
Vmn2r-ps117	T	A	17: 18,823,775 (GRCm38)	L371*	probably null	Het
Wwp1	T	A	4: 19,662,215 (GRCm38)	N127Y	possibly damaging	Het
Yae1d1	A	T	13: 17,993,185 (GRCm38)	V41D	probably damaging	Het
Zbtb8b	T	C	4: 129,432,724 (GRCm38)	D216G	probably benign	Het
Zfp462	T	C	4: 55,016,988 (GRCm38)	S903P	probably benign	Het
Zranb1	G	A	7: 132,983,737 (GRCm38)	G638D	probably 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
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
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'- AAATCCTGCTAATGACTCCTCTAACTC -3'
(R):5'- TGCATTGCTCAAAGACTAGTTTGG -3'

Sequencing Primer
(F):5'- CACTAGATTCTTCTCATAGACAGGGC -3'
(R):5'- GGATTGTACTTCACCACCACATGTAG -3'

Posted On

2022-05-16