Mutagenetix > Incidental Mutation

Incidental Mutation 'R0295:Usp32'

37700

Institutional Source

Beutler Lab

Gene Symbol

Usp32

Ensembl Gene

ENSMUSG00000000804

Gene Name

ubiquitin specific peptidase 32

Synonyms

2900074J03Rik, 6430526O11Rik

MMRRC Submission

038512-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0295 (G1)

Quality Score

134

Status

Validated

Chromosome

Chromosomal Location

84875268-85030987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84944518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 316 (S316P)

Ref Sequence

ENSEMBL: ENSMUSP00000103710 (fasta)

Gene Model

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

AlphaFold

F8VPZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000108075
AA Change: S316P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: S316P

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: ENSMUST00000172950

Meta Mutation Damage Score

0.3514

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	G	A	10: 76,290,642 (GRCm39)	S127N	probably damaging	Het
Abcc8	T	C	7: 45,767,478 (GRCm39)	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,197,213 (GRCm39)		probably null	Het
Adh4	A	G	3: 138,134,837 (GRCm39)	D337G	probably damaging	Het
Apob	T	A	12: 8,052,181 (GRCm39)	Y1207*	probably null	Het
Birc6	T	C	17: 74,920,357 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,366,298 (GRCm39)	I1065T	probably benign	Het
Cacna1i	T	A	15: 80,240,412 (GRCm39)	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,504,989 (GRCm39)	P179H	probably damaging	Het
Ccdc18	A	T	5: 108,321,655 (GRCm39)	K586N	probably damaging	Het
Cep290	A	C	10: 100,373,683 (GRCm39)	E1321A	probably damaging	Het
Cstpp1	A	T	2: 91,112,939 (GRCm39)	I173N	probably damaging	Het
Ctc1	A	G	11: 68,921,414 (GRCm39)	K682E	possibly damaging	Het
Cux1	A	C	5: 136,342,066 (GRCm39)	V442G	probably benign	Het
Dph2	A	T	4: 117,748,127 (GRCm39)	V150E	possibly damaging	Het
Etv6	A	G	6: 134,243,238 (GRCm39)	D331G	probably benign	Het
Fbxo42	A	G	4: 140,927,808 (GRCm39)	D696G	probably damaging	Het
Fbxo8	G	A	8: 57,043,109 (GRCm39)	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840 (GRCm39)	T73A	possibly damaging	Het
H2aj	C	G	6: 136,785,602 (GRCm39)	R89G	probably damaging	Het
Ifng	G	T	10: 118,277,154 (GRCm39)	S32I	possibly damaging	Het
Ildr1	A	G	16: 36,529,839 (GRCm39)		probably null	Het
Knl1	A	C	2: 118,919,320 (GRCm39)	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,519,858 (GRCm39)	Y108*	probably null	Het
Lcp1	A	G	14: 75,436,860 (GRCm39)	I69V	probably null	Het
Lrp6	A	T	6: 134,434,656 (GRCm39)	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,630,909 (GRCm39)	E1009D	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Med14	G	C	X: 12,551,987 (GRCm39)	R1223G	probably damaging	Het
Mesd	C	T	7: 83,547,073 (GRCm39)	Q179*	probably null	Het
Myh7	A	G	14: 55,222,278 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,861 (GRCm39)	I804T	probably damaging	Het
Neb	T	C	2: 52,174,297 (GRCm39)	I1521V	possibly damaging	Het
Nosip	T	A	7: 44,726,340 (GRCm39)	I249N	probably damaging	Het
Nostrin	A	C	2: 69,009,760 (GRCm39)	E296A	probably benign	Het
Oprk1	T	C	1: 5,669,073 (GRCm39)	L173S	possibly damaging	Het
Or2n1d	A	T	17: 38,646,182 (GRCm39)	I45F	probably damaging	Het
Or4k36	T	A	2: 111,146,499 (GRCm39)	V225D	probably damaging	Het
Or51v8	T	C	7: 103,319,518 (GRCm39)	H240R	probably damaging	Het
Or5p1	T	G	7: 107,916,892 (GRCm39)	S264A	probably benign	Het
Pdzd7	A	G	19: 45,025,511 (GRCm39)	V328A	probably benign	Het
Podxl2	A	T	6: 88,826,660 (GRCm39)	S215R	probably benign	Het
Prss36	T	G	7: 127,535,027 (GRCm39)	T418P	possibly damaging	Het
Ralgps2	T	A	1: 156,651,555 (GRCm39)		probably benign	Het
Rasa2	T	C	9: 96,427,863 (GRCm39)		probably null	Het
Rgs1	A	T	1: 144,121,224 (GRCm39)	I149N	probably damaging	Het
Rgs16	A	G	1: 153,619,483 (GRCm39)	E163G	probably damaging	Het
Rnf121	A	G	7: 101,684,553 (GRCm39)	F120S	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slfn8	A	T	11: 82,894,169 (GRCm39)	Y823*	probably null	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
St6gal1	T	A	16: 23,174,953 (GRCm39)		probably benign	Het
Tet3	G	A	6: 83,346,121 (GRCm39)	P1304S	probably benign	Het
Timm29	T	C	9: 21,504,372 (GRCm39)		probably null	Het
Tpcn1	T	A	5: 120,677,125 (GRCm39)	I687F	probably damaging	Het
Trim46	A	G	3: 89,152,420 (GRCm39)		probably benign	Het
Ttc23	T	A	7: 67,319,600 (GRCm39)		probably benign	Het
Ttll6	G	T	11: 96,045,540 (GRCm39)	V586L	probably benign	Het
Ttn	A	T	2: 76,588,955 (GRCm39)		probably benign	Het
Uba3	A	T	6: 97,168,544 (GRCm39)	H160Q	possibly damaging	Het
Vcan	T	C	13: 89,860,310 (GRCm39)	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,815,734 (GRCm39)	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281 (GRCm39)	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,041,543 (GRCm39)	S138P	probably 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
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
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'- GAGTTGCTGTTGAGGATGGAATAGACC -3'
(R):5'- TGATATGCCCCATGTCCTGCGAAG -3'

Sequencing Primer
(F):5'- CACTGGACCAGATAAGTGGTGA -3'
(R):5'- CCATGTCCTGCGAAGTTCTG -3'

Posted On

2013-05-23