Mutagenetix > Incidental Mutation

Incidental Mutation 'R4332:Usp32'

323640

Institutional Source

Beutler Lab

Gene Symbol

Usp32

Ensembl Gene

ENSMUSG00000000804

Gene Name

ubiquitin specific peptidase 32

Synonyms

2900074J03Rik, 6430526O11Rik

MMRRC Submission

041099-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84875268-85030987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84994804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 36 (C36Y)

Ref Sequence

ENSEMBL: ENSMUSP00000103710 (fasta)

Gene Model

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

AlphaFold

F8VPZ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108075
AA Change: C36Y

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: C36Y

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: ENSMUST00000172595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174809

Meta Mutation Damage Score

0.1622

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	C	8: 106,436,356 (GRCm39)	I175T	possibly damaging	Het
A2m	A	G	6: 121,634,406 (GRCm39)	D646G	probably benign	Het
Acat2	T	C	17: 13,181,782 (GRCm39)		probably benign	Het
Armc10	T	A	5: 21,866,579 (GRCm39)	V281E	probably damaging	Het
Best3	T	A	10: 116,838,429 (GRCm39)	F162L	probably benign	Het
Ces1g	T	C	8: 94,046,446 (GRCm39)	M360V	probably benign	Het
Chd7	G	T	4: 8,854,143 (GRCm39)	R1905L	probably damaging	Het
Dhx36	C	T	3: 62,392,412 (GRCm39)	R538Q	probably damaging	Het
Efna2	G	A	10: 80,024,315 (GRCm39)	R161Q	probably damaging	Het
Farsb	T	C	1: 78,445,903 (GRCm39)	T159A	possibly damaging	Het
Fry	C	T	5: 150,305,128 (GRCm39)	A611V	probably damaging	Het
Fsip2	A	G	2: 82,808,201 (GRCm39)	T1507A	probably benign	Het
Gm5592	G	T	7: 40,865,542 (GRCm39)		probably benign	Het
Gm7367	T	C	7: 59,805,364 (GRCm39)		noncoding transcript	Het
Gm9312	A	T	12: 24,302,095 (GRCm39)		noncoding transcript	Het
Gmfg	A	T	7: 28,136,997 (GRCm39)	M1L	probably benign	Het
Gpr149	C	A	3: 62,511,794 (GRCm39)	L68F	possibly damaging	Het
Hmga2	T	C	10: 120,200,117 (GRCm39)		probably benign	Het
Il12a	C	A	3: 68,602,594 (GRCm39)		probably benign	Het
Itprid1	G	A	6: 55,945,220 (GRCm39)	G647D	possibly damaging	Het
Itsn2	T	A	12: 4,762,611 (GRCm39)	M1597K	possibly damaging	Het
Kyat3	A	G	3: 142,431,187 (GRCm39)	I154M	probably damaging	Het
Npas3	A	C	12: 54,108,852 (GRCm39)	I419L	probably damaging	Het
Ogfrl1	T	A	1: 23,414,910 (GRCm39)	Y199F	probably damaging	Het
Or14a259	A	C	7: 86,013,080 (GRCm39)	V155G	probably benign	Het
Or5aq7	A	G	2: 86,938,089 (GRCm39)	V214A	possibly damaging	Het
Or6b6	T	C	7: 106,571,354 (GRCm39)	M66V	probably benign	Het
P2rx3	G	A	2: 84,855,205 (GRCm39)	P84S	probably benign	Het
P3h3	A	G	6: 124,819,099 (GRCm39)	V657A	probably damaging	Het
Pabpc2	A	G	18: 39,908,393 (GRCm39)	M553V	probably benign	Het
Pcdhb1	T	C	18: 37,398,583 (GRCm39)	F178S	probably damaging	Het
Plppr4	A	T	3: 117,116,474 (GRCm39)	M403K	probably benign	Het
Ralgapa2	G	A	2: 146,102,288 (GRCm39)	T1956M	probably benign	Het
Rbm12b1	G	T	4: 12,145,655 (GRCm39)	K542N	probably benign	Het
Rdh8	C	T	9: 20,733,925 (GRCm39)	A37V	probably damaging	Het
Rnf213	A	G	11: 119,327,502 (GRCm39)	T1830A	probably damaging	Het
Sardh	G	T	2: 27,105,126 (GRCm39)	Q666K	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin4	T	G	11: 87,458,730 (GRCm39)	L368R	possibly damaging	Het
Serpinb11	G	A	1: 107,297,294 (GRCm39)		probably null	Het
Slc6a6	G	A	6: 91,700,452 (GRCm39)	G60D	probably damaging	Het
Tfr2	A	G	5: 137,569,996 (GRCm39)	D134G	probably damaging	Het
Tmprss15	T	C	16: 78,831,222 (GRCm39)	T378A	probably benign	Het
Tmprss7	T	G	16: 45,506,690 (GRCm39)	K124T	probably benign	Het
Urb1	A	G	16: 90,571,425 (GRCm39)	L1128P	probably damaging	Het
Vmn2r50	T	A	7: 9,786,922 (GRCm39)	T62S	probably benign	Het
Zfp110	T	A	7: 12,578,498 (GRCm39)	Y136*	probably null	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
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
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'- GGTTGCTTACCTACTTAGCAAGA -3'
(R):5'- GCTCAAGTTGGCCTCAGACT -3'

Sequencing Primer
(F):5'- GCCTCAGCTACACAATGAGTTGG -3'
(R):5'- AAGTTGGCCTCAGACTCCATTATTC -3'

Posted On

2015-06-24