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

6430526O11Rik, 2900074J03Rik

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

84984442-85140161 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85053692 bp (GRCm38)

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
1110051M20Rik	A	T	2: 91,282,594 (GRCm38)	I173N	probably damaging	Het
2610028H24Rik	G	A	10: 76,454,808 (GRCm38)	S127N	probably damaging	Het
Abcc8	T	C	7: 46,118,054 (GRCm38)	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,548,005 (GRCm38)		probably null	Het
Adh4	A	G	3: 138,429,076 (GRCm38)	D337G	probably damaging	Het
Apob	T	A	12: 8,002,181 (GRCm38)	Y1207*	probably null	Het
Birc6	T	C	17: 74,613,362 (GRCm38)		probably benign	Het
Bms1	A	G	6: 118,389,337 (GRCm38)	I1065T	probably benign	Het
Cacna1i	T	A	15: 80,356,211 (GRCm38)	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,356,870 (GRCm38)	P179H	probably damaging	Het
Ccdc18	A	T	5: 108,173,789 (GRCm38)	K586N	probably damaging	Het
Cep290	A	C	10: 100,537,821 (GRCm38)	E1321A	probably damaging	Het
Ctc1	A	G	11: 69,030,588 (GRCm38)	K682E	possibly damaging	Het
Cux1	A	C	5: 136,313,212 (GRCm38)	V442G	probably benign	Het
Dph2	A	T	4: 117,890,930 (GRCm38)	V150E	possibly damaging	Het
Etv6	A	G	6: 134,266,275 (GRCm38)	D331G	probably benign	Het
Fbxo42	A	G	4: 141,200,497 (GRCm38)	D696G	probably damaging	Het
Fbxo8	G	A	8: 56,590,074 (GRCm38)	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840 (GRCm38)	T73A	possibly damaging	Het
H2afj	C	G	6: 136,808,604 (GRCm38)	R89G	probably damaging	Het
Ifng	G	T	10: 118,441,249 (GRCm38)	S32I	possibly damaging	Het
Ildr1	A	G	16: 36,709,477 (GRCm38)		probably null	Het
Knl1	A	C	2: 119,088,839 (GRCm38)	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,701,108 (GRCm38)	Y108*	probably null	Het
Lcp1	A	G	14: 75,199,420 (GRCm38)	I69V	probably null	Het
Lrp6	A	T	6: 134,457,693 (GRCm38)	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,565,849 (GRCm38)	E1009D	probably benign	Het
Marf1	C	T	16: 14,142,534 (GRCm38)	A549T	probably damaging	Het
Med14	G	C	X: 12,685,748 (GRCm38)	R1223G	probably damaging	Het
Mesd	C	T	7: 83,897,865 (GRCm38)	Q179*	probably null	Het
Myh7	A	G	14: 54,984,821 (GRCm38)		probably benign	Het
Myo6	T	C	9: 80,283,579 (GRCm38)	I804T	probably damaging	Het
Neb	T	C	2: 52,284,285 (GRCm38)	I1521V	possibly damaging	Het
Nosip	T	A	7: 45,076,916 (GRCm38)	I249N	probably damaging	Het
Nostrin	A	C	2: 69,179,416 (GRCm38)	E296A	probably benign	Het
Olfr1280	T	A	2: 111,316,154 (GRCm38)	V225D	probably damaging	Het
Olfr136	A	T	17: 38,335,291 (GRCm38)	I45F	probably damaging	Het
Olfr491	T	G	7: 108,317,685 (GRCm38)	S264A	probably benign	Het
Olfr624	T	C	7: 103,670,311 (GRCm38)	H240R	probably damaging	Het
Oprk1	T	C	1: 5,598,850 (GRCm38)	L173S	possibly damaging	Het
Pdzd7	A	G	19: 45,037,072 (GRCm38)	V328A	probably benign	Het
Podxl2	A	T	6: 88,849,678 (GRCm38)	S215R	probably benign	Het
Prss36	T	G	7: 127,935,855 (GRCm38)	T418P	possibly damaging	Het
Ralgps2	T	A	1: 156,823,985 (GRCm38)		probably benign	Het
Rasa2	T	C	9: 96,545,810 (GRCm38)		probably null	Het
Rgs1	A	T	1: 144,245,486 (GRCm38)	I149N	probably damaging	Het
Rgs16	A	G	1: 153,743,737 (GRCm38)	E163G	probably damaging	Het
Rnf121	A	G	7: 102,035,346 (GRCm38)	F120S	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858 (GRCm38)	S293F	probably damaging	Het
Slfn8	A	T	11: 83,003,343 (GRCm38)	Y823*	probably null	Het
Spdl1	A	T	11: 34,813,343 (GRCm38)	N554K	possibly damaging	Het
St6gal1	T	A	16: 23,356,203 (GRCm38)		probably benign	Het
Tet3	G	A	6: 83,369,139 (GRCm38)	P1304S	probably benign	Het
Timm29	T	C	9: 21,593,076 (GRCm38)		probably null	Het
Tpcn1	T	A	5: 120,539,060 (GRCm38)	I687F	probably damaging	Het
Trim46	A	G	3: 89,245,113 (GRCm38)		probably benign	Het
Ttc23	T	A	7: 67,669,852 (GRCm38)		probably benign	Het
Ttll6	G	T	11: 96,154,714 (GRCm38)	V586L	probably benign	Het
Ttn	A	T	2: 76,758,611 (GRCm38)		probably benign	Het
Uba3	A	T	6: 97,191,583 (GRCm38)	H160Q	possibly damaging	Het
Vcan	T	C	13: 89,712,191 (GRCm38)	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,817,472 (GRCm38)	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281 (GRCm38)	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,307,616 (GRCm38)	S138P	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
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'- GAGTTGCTGTTGAGGATGGAATAGACC -3'
(R):5'- TGATATGCCCCATGTCCTGCGAAG -3'

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

Posted On

2013-05-23