Mutagenetix > Incidental Mutation

Incidental Mutation 'R1184:Usp30'

101905

Institutional Source

Beutler Lab

Gene Symbol

Usp30

Ensembl Gene

ENSMUSG00000029592

Gene Name

ubiquitin specific peptidase 30

Synonyms

6330590F17Rik, D5Ertd483e

MMRRC Submission

039256-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1184 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114238395-114261571 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 114241888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031588] [ENSMUST00000200119] [ENSMUST00000200119] [ENSMUST00000202603] [ENSMUST00000202603]

AlphaFold

Q3UN04

Predicted Effect

probably null
Transcript: ENSMUST00000031588

SMART Domains

Protein: ENSMUSP00000031588
Gene: ENSMUSG00000029592

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
Pfam:UCH	67	499	2.6e-44	PFAM
Pfam:UCH_1	68	481	8.8e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196574

Predicted Effect

probably null
Transcript: ENSMUST00000200119

SMART Domains

Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
Pfam:UCH	67	368	2.9e-31	PFAM
Pfam:UCH_1	68	376	1e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000200119

SMART Domains

Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
Pfam:UCH	67	368	2.9e-31	PFAM
Pfam:UCH_1	68	376	1e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000202603

SMART Domains

Protein: ENSMUSP00000144522
Gene: ENSMUSG00000029592

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:UCH	51	144	5.8e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000202603

SMART Domains

Protein: ENSMUSP00000144522
Gene: ENSMUSG00000029592

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:UCH	51	144	5.8e-11	PFAM

Meta Mutation Damage Score

0.9498

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,137,894 (GRCm39)	R7G	probably damaging	Het
Ahdc1	T	A	4: 132,792,707 (GRCm39)	M1316K	probably benign	Het
Alkal1	A	G	1: 6,459,712 (GRCm39)	Y96C	probably damaging	Het
Anxa2r1	A	T	13: 120,496,667 (GRCm39)	N67K	probably benign	Het
Arhgap17	T	C	7: 122,913,913 (GRCm39)	Y199C	probably damaging	Het
Bmp2	T	C	2: 133,403,388 (GRCm39)	V313A	probably damaging	Het
Cacna1b	C	T	2: 24,577,757 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,140,876 (GRCm39)	T141A	probably damaging	Het
Ccdc57	A	G	11: 120,764,637 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,970,183 (GRCm39)		probably null	Het
Chadl	T	C	15: 81,577,258 (GRCm39)	S198G	probably benign	Het
Chd6	G	C	2: 160,872,722 (GRCm39)	P286R	probably damaging	Het
Clec4a4	G	T	6: 122,989,671 (GRCm39)	W104L	probably benign	Het
Coq4	G	A	2: 29,678,346 (GRCm39)		probably benign	Het
Cplane1	G	T	15: 8,245,971 (GRCm39)	V1448L	probably benign	Het
Crtc2	T	A	3: 90,169,940 (GRCm39)	Y445*	probably null	Het
Dapk1	A	T	13: 60,844,112 (GRCm39)	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,270,204 (GRCm39)		probably null	Het
Dcun1d4	T	C	5: 73,668,455 (GRCm39)		probably benign	Het
Depdc7	A	T	2: 104,560,523 (GRCm39)		probably benign	Het
Dna2	A	G	10: 62,794,977 (GRCm39)	D416G	probably benign	Het
Dnah2	A	T	11: 69,390,016 (GRCm39)	I743N	probably damaging	Het
Dnah9	A	G	11: 65,975,438 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,846,999 (GRCm39)	S877P	probably damaging	Het
Eif3l	T	A	15: 78,959,966 (GRCm39)		probably null	Het
Epha5	A	T	5: 84,219,134 (GRCm39)		probably null	Het
Ffar3	T	A	7: 30,554,529 (GRCm39)	N264Y	probably damaging	Het
Fyb1	A	T	15: 6,668,381 (GRCm39)	I525F	probably damaging	Het
Fyco1	A	G	9: 123,648,218 (GRCm39)	F1239L	probably damaging	Het
Gcdh	T	C	8: 85,620,071 (GRCm39)		probably benign	Het
Gk5	T	C	9: 96,032,473 (GRCm39)		probably benign	Het
Grm1	A	G	10: 10,595,778 (GRCm39)	Y617H	probably benign	Het
Gvin-ps3	A	G	7: 105,683,159 (GRCm39)	V32A	probably benign	Het
Hhipl2	A	T	1: 183,206,042 (GRCm39)	I131L	probably damaging	Het
Larp4b	T	C	13: 9,216,345 (GRCm39)		probably benign	Het
Lrig2	T	A	3: 104,398,227 (GRCm39)	I301F	possibly damaging	Het
Man2a2	A	T	7: 80,012,713 (GRCm39)	I600N	possibly damaging	Het
Mylk2	G	C	2: 152,755,661 (GRCm39)		probably null	Het
Myo6	C	T	9: 80,193,664 (GRCm39)	Q870*	probably null	Het
Napg	T	G	18: 63,127,409 (GRCm39)	H204Q	probably benign	Het
Neb	G	A	2: 52,153,959 (GRCm39)	T2384M	probably damaging	Het
Nek10	A	G	14: 14,931,325 (GRCm38)		probably benign	Het
Or11h23	A	C	14: 50,948,071 (GRCm39)	T95P	probably benign	Het
Or4c111	A	G	2: 88,844,057 (GRCm39)	M117T	probably damaging	Het
Or5an6	T	C	19: 12,372,221 (GRCm39)	V198A	probably benign	Het
Or5b108	T	G	19: 13,168,739 (GRCm39)	L236R	probably damaging	Het
Pclo	A	G	5: 14,572,276 (GRCm39)	T554A	unknown	Het
Perm1	C	A	4: 156,301,771 (GRCm39)	T105K	probably damaging	Het
Pik3r1	T	C	13: 101,822,866 (GRCm39)		probably null	Het
Pld5	A	G	1: 175,872,462 (GRCm39)	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,667,195 (GRCm39)		probably benign	Het
Ptpn12	A	C	5: 21,203,354 (GRCm39)	S475A	possibly damaging	Het
Ptprt	A	G	2: 161,769,692 (GRCm39)	V391A	possibly damaging	Het
Rac2	T	G	15: 78,450,145 (GRCm39)	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,888,676 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sebox	A	T	11: 78,394,675 (GRCm39)	T47S	probably damaging	Het
Sema4b	A	G	7: 79,874,388 (GRCm39)	T593A	probably benign	Het
Serpina3a	C	T	12: 104,082,787 (GRCm39)	Q187*	probably null	Het
Serpinb1a	T	C	13: 33,027,199 (GRCm39)	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,443,757 (GRCm39)	E259A	probably benign	Het
Slc30a3	T	A	5: 31,247,510 (GRCm39)	H44L	probably damaging	Het
Smarca2	T	C	19: 26,748,333 (GRCm39)		probably benign	Het
Snrnp200	T	A	2: 127,078,737 (GRCm39)	C1801S	probably damaging	Het
Soat1	G	A	1: 156,269,944 (GRCm39)		probably null	Het
Spink6	T	C	18: 44,204,605 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,012,256 (GRCm39)	R354H	probably damaging	Het
Tbck	T	A	3: 132,543,733 (GRCm39)	H861Q	probably benign	Het
Tgfbrap1	G	A	1: 43,088,856 (GRCm39)	T849M	possibly damaging	Het
Tnrc6a	A	G	7: 122,769,563 (GRCm39)	N451S	possibly damaging	Het
Trim36	T	C	18: 46,329,318 (GRCm39)	T41A	probably damaging	Het
Trmt112	C	A	19: 6,887,721 (GRCm39)		probably benign	Het
Trpc4ap	A	G	2: 155,486,990 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,645,746 (GRCm39)	P535S	probably damaging	Het
Ttn	A	T	2: 76,691,776 (GRCm39)		probably benign	Het
Txndc11	C	T	16: 10,946,364 (GRCm39)	R149Q	probably benign	Het
Ubr4	C	T	4: 139,164,509 (GRCm39)		probably benign	Het
Vmn1r195	A	G	13: 22,463,181 (GRCm39)	Y217C	probably damaging	Het
Vps33b	T	A	7: 79,932,234 (GRCm39)	D135E	probably benign	Het
Vrk2	A	G	11: 26,433,331 (GRCm39)		probably benign	Het
Wdr81	G	T	11: 75,343,809 (GRCm39)	P486Q	probably damaging	Het
Zfp788	T	C	7: 41,297,750 (GRCm39)	Y129H	probably damaging	Het

Other mutations in Usp30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03353:Usp30	APN	5	114,259,119 (GRCm39)	missense	probably benign	0.00
IGL03384:Usp30	APN	5	114,259,635 (GRCm39)	missense	probably damaging	1.00
R0095:Usp30	UTSW	5	114,243,901 (GRCm39)	missense	probably damaging	1.00
R0972:Usp30	UTSW	5	114,249,925 (GRCm39)	splice site	probably benign
R1589:Usp30	UTSW	5	114,251,022 (GRCm39)	missense	probably damaging	1.00
R1678:Usp30	UTSW	5	114,259,207 (GRCm39)	missense	probably damaging	1.00
R2127:Usp30	UTSW	5	114,249,224 (GRCm39)	missense	probably damaging	1.00
R2129:Usp30	UTSW	5	114,249,224 (GRCm39)	missense	probably damaging	1.00
R2341:Usp30	UTSW	5	114,249,241 (GRCm39)	nonsense	probably null
R4677:Usp30	UTSW	5	114,257,705 (GRCm39)	missense	probably damaging	1.00
R5191:Usp30	UTSW	5	114,203,755 (GRCm39)	start gained	probably benign
R5956:Usp30	UTSW	5	114,257,682 (GRCm39)	missense	possibly damaging	0.89
R6730:Usp30	UTSW	5	114,241,770 (GRCm39)	missense	probably damaging	1.00
R6947:Usp30	UTSW	5	114,241,821 (GRCm39)	missense	probably benign	0.01
R7572:Usp30	UTSW	5	114,258,308 (GRCm39)	missense	probably benign	0.15
R7653:Usp30	UTSW	5	114,259,730 (GRCm39)	missense	probably damaging	1.00
R7654:Usp30	UTSW	5	114,240,506 (GRCm39)	missense	probably damaging	1.00
R7794:Usp30	UTSW	5	114,251,033 (GRCm39)	nonsense	probably null
R8063:Usp30	UTSW	5	114,238,524 (GRCm39)	missense	probably benign	0.01
R8100:Usp30	UTSW	5	114,249,245 (GRCm39)	missense	probably damaging	1.00
R8393:Usp30	UTSW	5	114,259,826 (GRCm39)	nonsense	probably null
R9035:Usp30	UTSW	5	114,243,877 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- CCTTGTCAATCTGGGGAATACCTGC -3'
(R):5'- CGGGCTCACTGAATGCTGCTAAAG -3'

Sequencing Primer
(F):5'- AGTGGCTGGAAGAGTTTACC -3'
(R):5'- TCCTACAAAGTGGCTCCCCTAA -3'

Posted On

2014-01-15