Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Usp32'

685043

Institutional Source

Beutler Lab

Gene Symbol

Usp32

Ensembl Gene

ENSMUSG00000000804

Gene Name

ubiquitin specific peptidase 32

Synonyms

2900074J03Rik, 6430526O11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84875268-85030987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84944777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 304 (R304C)

Ref Sequence

ENSEMBL: ENSMUSP00000103710 (fasta)

Gene Model

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

AlphaFold

F8VPZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000108075
AA Change: R304C

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: R304C

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: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,241,926 (GRCm39)	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,843,456 (GRCm39)	D985N	probably benign	Het
Ak5	A	T	3: 152,359,091 (GRCm39)	M207K	probably damaging	Het
Akt1	T	C	12: 112,626,048 (GRCm39)	I75V	probably benign	Het
Ank	T	A	15: 27,544,413 (GRCm39)	L58*	probably null	Het
Ap1g1	A	C	8: 110,581,738 (GRCm39)	T666P	probably benign	Het
Ap3b2	A	T	7: 81,117,192 (GRCm39)	S615T	probably benign	Het
Ash1l	G	T	3: 88,888,715 (GRCm39)	R198L	probably benign	Het
Axl	A	T	7: 25,478,103 (GRCm39)	C199S	probably damaging	Het
C1d	T	C	11: 17,212,787 (GRCm39)	L44S	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Col4a4	A	G	1: 82,449,032 (GRCm39)	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,832,061 (GRCm39)	I223N	probably damaging	Het
Efcab3	A	T	11: 104,920,822 (GRCm39)	D4671V	probably damaging	Het
Eml1	T	A	12: 108,504,438 (GRCm39)	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,519,660 (GRCm39)	T282I	probably damaging	Het
Fmo2	A	T	1: 162,705,647 (GRCm39)	C397*	probably null	Het
Gbp10	C	A	5: 105,369,847 (GRCm39)	V262L	probably benign	Het
Gm45871	A	T	18: 90,609,968 (GRCm39)	H402L	probably damaging	Het
Has1	T	C	17: 18,063,912 (GRCm39)	S576G	unknown	Het
Hat1	C	T	2: 71,271,647 (GRCm39)	R407W	probably damaging	Het
Hivep2	G	T	10: 14,008,157 (GRCm39)	R1585L	probably benign	Het
Ifi211	A	G	1: 173,733,894 (GRCm39)	V89A	possibly damaging	Het
Igkv4-59	T	C	6: 69,415,475 (GRCm39)	T27A	possibly damaging	Het
Irf9	T	A	14: 55,845,140 (GRCm39)	N333K	possibly damaging	Het
Jakmip2	C	T	18: 43,715,323 (GRCm39)	V68I	probably benign	Het
Kif1b	T	G	4: 149,275,712 (GRCm39)	I1400L	probably damaging	Het
Kif2b	C	T	11: 91,467,053 (GRCm39)	C410Y	probably benign	Het
Klk1b16	T	C	7: 43,790,189 (GRCm39)	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lama5	A	G	2: 179,838,311 (GRCm39)	C855R	probably damaging	Het
Mast3	A	G	8: 71,233,904 (GRCm39)	L947P	probably damaging	Het
Mblac2	C	A	13: 81,860,072 (GRCm39)	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,358,925 (GRCm39)	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,058,939 (GRCm39)	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590 (GRCm38)	L982P	probably damaging	Het
Nlrp4b	C	T	7: 10,448,886 (GRCm39)	T363I	probably damaging	Het
Nol10	A	G	12: 17,408,134 (GRCm39)	E120G	probably damaging	Het
Olfml1	T	C	7: 107,189,423 (GRCm39)	S163P	probably damaging	Het
Or2n1c	A	T	17: 38,519,555 (GRCm39)	N140Y	probably benign	Het
Or51a7	A	T	7: 102,614,618 (GRCm39)	I104F	probably damaging	Het
Or6ae1	T	C	7: 139,742,198 (GRCm39)	I222V	probably damaging	Het
Or8b43	T	A	9: 38,360,171 (GRCm39)	M1K	probably null	Het
Or8i2	T	C	2: 86,852,241 (GRCm39)	T216A	probably benign	Het
Pde6a	T	A	18: 61,419,060 (GRCm39)	L812Q	probably damaging	Het
Pdxp	T	A	15: 78,802,459 (GRCm39)	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,117,317 (GRCm39)	L1368P		Het
Ppie	T	C	4: 123,024,344 (GRCm39)	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,865,356 (GRCm39)	H657R	probably benign	Het
Sarnp	T	A	10: 128,657,842 (GRCm39)		probably null	Het
Serpinb9c	T	C	13: 33,334,329 (GRCm39)	T266A	probably damaging	Het
Srgap3	T	A	6: 112,757,854 (GRCm39)	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882 (GRCm39)	W717L	probably benign	Het
Tgfbi	A	G	13: 56,771,402 (GRCm39)	Y88C	probably damaging	Het
Tmc6	A	T	11: 117,661,308 (GRCm39)	F624Y	probably damaging	Het
Tnni2	A	G	7: 141,998,013 (GRCm39)	E172G	probably damaging	Het
Traf3ip1	T	C	1: 91,433,178 (GRCm39)	S316P	probably benign	Het
Tshr	C	A	12: 91,504,548 (GRCm39)	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,500,542 (GRCm39)	A317E	probably damaging	Het
Usp24	T	C	4: 106,275,412 (GRCm39)	V2229A	possibly damaging	Het
Usp40	C	T	1: 87,935,063 (GRCm39)	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,724,109 (GRCm39)	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,507,284 (GRCm39)	K676M	probably benign	Het
Vnn1	A	G	10: 23,775,349 (GRCm39)	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,302,176 (GRCm39)	L698P	possibly damaging	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
R5111:Usp32	UTSW	11	84,968,157 (GRCm39)	missense	possibly damaging	0.95
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
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'- AGCCAGTCTCACCTTTGTG -3'
(R):5'- GGGTAGCTTCTAATGAAATGCATC -3'

Sequencing Primer
(F):5'- GTGGTATCATGTGCATTCAATATCC -3'
(R):5'- GCTTCTAATGAAATGCATCATAGTTC -3'

Posted On

2021-10-11