Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4812001:Usp32'

556923

Institutional Source

Beutler Lab

Gene Symbol

Usp32

Ensembl Gene

ENSMUSG00000000804

Gene Name

ubiquitin specific peptidase 32

Synonyms

6430526O11Rik, 2900074J03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4812001 (G1)

Quality Score

203.009

Status

Not validated

Chromosome

Chromosomal Location

84984442-85140161 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85010074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1107 (V1107I)

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: V1107I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: V1107I

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: 93.8%
3x: 91.0%
10x: 85.3%
20x: 73.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,630,053 (GRCm38)	S252P	possibly damaging	Het
4933409G03Rik	G	A	2: 68,588,948 (GRCm38)	V14I	probably benign	Het
Adgrf5	T	G	17: 43,450,369 (GRCm38)	V985G	probably damaging	Het
Ankrd44	A	T	1: 54,723,038 (GRCm38)	Y542*	probably null	Het
Atp13a3	T	C	16: 30,362,578 (GRCm38)	T75A	probably damaging	Het
Atr	T	C	9: 95,910,649 (GRCm38)	F1675L	probably benign	Het
Atrnl1	A	G	19: 57,731,623 (GRCm38)	I1082V	probably benign	Het
C87977	A	G	4: 144,209,516 (GRCm38)	I56T	probably benign	Het
Clip1	T	A	5: 123,630,675 (GRCm38)	R620S	probably benign	Het
Cped1	T	C	6: 22,122,294 (GRCm38)	F391S	probably benign	Het
Cracr2a	T	C	6: 127,625,870 (GRCm38)	L230P	probably damaging	Het
Dctn1	T	A	6: 83,199,762 (GRCm38)	V1266E	possibly damaging	Het
Dlg1	T	A	16: 31,846,885 (GRCm38)	F687I	probably benign	Het
Dnah8	C	A	17: 30,708,445 (GRCm38)	D1358E	probably benign	Het
Dnajc11	A	G	4: 151,952,889 (GRCm38)	R84G	probably benign	Het
Dnajc14	C	A	10: 128,806,683 (GRCm38)	T158N	probably damaging	Het
Dscc1	A	G	15: 55,082,261 (GRCm38)	L346P	probably damaging	Het
Efcab3	A	G	11: 105,099,979 (GRCm38)	I71V	probably null	Het
Erbb3	T	A	10: 128,574,379 (GRCm38)	Q670L	possibly damaging	Het
Ercc4	G	A	16: 13,144,447 (GRCm38)	E652K	probably benign	Het
Ercc6l2	T	A	13: 63,858,257 (GRCm38)	V591D	possibly damaging	Het
Fam126b	T	G	1: 58,548,703 (GRCm38)	D117A	possibly damaging	Het
Fam3c	C	T	6: 22,321,370 (GRCm38)	G134E	probably damaging	Het
Frmd5	A	G	2: 121,586,446 (GRCm38)	V70A	probably benign	Het
Gjc1	A	T	11: 102,800,981 (GRCm38)	Y65*	probably null	Het
Gm3033	A	C	14: 3,848,891 (GRCm38)	L137F		Het
Gria4	C	A	9: 4,427,128 (GRCm38)	A771S	probably damaging	Het
Hc	A	G	2: 35,029,452 (GRCm38)	L674P	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277 (GRCm38)		probably benign	Het
Inpp5f	A	T	7: 128,692,308 (GRCm38)	Y696F	probably benign	Het
Itga11	C	A	9: 62,732,193 (GRCm38)	Q157K	probably damaging	Het
Itgb5	G	T	16: 33,919,987 (GRCm38)	C489F	probably damaging	Het
Klhl38	C	T	15: 58,322,542 (GRCm38)	G264S	probably benign	Het
Krt78	C	T	15: 101,948,069 (GRCm38)	V436M	probably damaging	Het
Mia2	A	T	12: 59,101,579 (GRCm38)	D75V	possibly damaging	Het
Mphosph6	T	A	8: 117,799,149 (GRCm38)	Q20L	probably damaging	Het
Ogfr	C	T	2: 180,595,511 (GRCm38)	P630S	possibly damaging	Het
Olfr1206	G	A	2: 88,864,970 (GRCm38)	V122M	probably benign	Het
Olfr1431	T	G	19: 12,210,253 (GRCm38)	I229S	probably damaging	Het
Olfr15	A	T	16: 3,839,530 (GRCm38)	K186*	probably null	Het
Pbx3	T	C	2: 34,224,619 (GRCm38)	E101G	probably damaging	Het
Pcca	T	A	14: 122,790,382 (GRCm38)	N587K	probably benign	Het
Pdia3	G	T	2: 121,433,530 (GRCm38)	A287S	probably damaging	Het
Pfas	T	A	11: 68,990,036 (GRCm38)	D209V		Het
Pter	A	T	2: 12,980,368 (GRCm38)	I170F	probably damaging	Het
Ptprq	A	T	10: 107,666,567 (GRCm38)	V830E	probably damaging	Het
Rab11fip5	T	C	6: 85,341,558 (GRCm38)	D783G	probably benign	Het
Rbm19	T	C	5: 120,128,250 (GRCm38)	V446A	possibly damaging	Het
Selp	A	G	1: 164,132,263 (GRCm38)	N363D	probably benign	Het
Six2	C	A	17: 85,685,301 (GRCm38)	S258I	possibly damaging	Het
Smc1b	A	G	15: 85,069,651 (GRCm38)	V1139A	possibly damaging	Het
Sp1	A	G	15: 102,408,408 (GRCm38)	T121A	possibly damaging	Het
Sucla2	A	T	14: 73,579,449 (GRCm38)	I210L	possibly damaging	Het
Trank1	T	C	9: 111,347,912 (GRCm38)	L339P	probably damaging	Het
Ttll5	T	A	12: 85,926,861 (GRCm38)	D794E	probably benign	Het
Vmn1r195	T	C	13: 22,278,863 (GRCm38)	Y168H	probably benign	Het
Vmn1r223	A	G	13: 23,249,890 (GRCm38)	N218S	probably damaging	Het
Vmn2r25	T	A	6: 123,823,488 (GRCm38)	S632C	probably damaging	Het
Vwa3a	A	T	7: 120,776,133 (GRCm38)	K390I	probably damaging	Het
Zfp442	A	T	2: 150,409,741 (GRCm38)	C80*	probably null	Het
Zic1	A	T	9: 91,364,341 (GRCm38)	I226N	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
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
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'- TTGAGGCATTACAGGAGGGATTTAG -3'
(R):5'- AAACCTTTCTGTGGGTCTCC -3'

Sequencing Primer
(F):5'- CATTACAGGAGGGATTTAGGTGAG -3'
(R):5'- ATTAGTTCCAGGACAGCCAGGTC -3'

Posted On

2019-06-07