Mutagenetix > Incidental Mutation

Incidental Mutation 'R5191:Usp30'

455932

Institutional Source

Beutler Lab

Gene Symbol

Usp30

Ensembl Gene

ENSMUSG00000029592

Gene Name

ubiquitin specific peptidase 30

Synonyms

6330590F17Rik, D5Ertd483e

MMRRC Submission

043263-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114238395-114261571 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 114203755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058472] [ENSMUST00000150106] [ENSMUST00000202603]

AlphaFold

Q3UN04

Predicted Effect

probably benign
Transcript: ENSMUST00000058472

SMART Domains

Protein: ENSMUSP00000050730
Gene: ENSMUSG00000042078

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	66	347	2.2e-26	PFAM
Pfam:MFS_1	86	346	2e-23	PFAM
Pfam:MFS_1	376	541	2.5e-16	PFAM
Pfam:Sugar_tr	377	523	2.9e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140151

Predicted Effect

probably benign
Transcript: ENSMUST00000150106

SMART Domains

Protein: ENSMUSP00000117724
Gene: ENSMUSG00000042078

Domain	Start	End	E-Value	Type
transmembrane domain	85	107	N/A	INTRINSIC
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	154	171	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162506

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (69/69)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	G	15: 101,034,946 (GRCm39)	E235G	probably damaging	Het
Adam26b	T	C	8: 43,973,028 (GRCm39)	D658G	probably damaging	Het
Adamts12	A	G	15: 11,327,843 (GRCm39)	R1407G	probably benign	Het
Aknad1	T	C	3: 108,659,306 (GRCm39)	S107P	probably benign	Het
Aknad1	G	A	3: 108,659,867 (GRCm39)	V294I	probably benign	Het
Arfgef2	A	G	2: 166,718,431 (GRCm39)	T1407A	probably damaging	Het
Atp5f1a	C	T	18: 77,867,929 (GRCm39)	P318S	probably damaging	Het
Atp9a	C	T	2: 168,503,983 (GRCm39)	V494M	possibly damaging	Het
Ccdc69	A	T	11: 54,943,719 (GRCm39)		probably null	Het
Crh	T	C	3: 19,748,093 (GRCm39)	E183G	probably damaging	Het
Cyp2c40	A	C	19: 39,791,035 (GRCm39)	N265K	probably damaging	Het
D630003M21Rik	C	T	2: 158,042,955 (GRCm39)	A862T	probably benign	Het
Dact3	T	G	7: 16,609,375 (GRCm39)	V9G	probably damaging	Het
Dnaaf9	A	T	2: 130,579,323 (GRCm39)	I638N	possibly damaging	Het
Dnah8	A	G	17: 30,965,739 (GRCm39)	E2357G	probably damaging	Het
Dzip1	C	T	14: 119,148,805 (GRCm39)	M291I	probably damaging	Het
Etl4	G	T	2: 20,344,810 (GRCm39)	S38I	probably damaging	Het
Fyb2	G	T	4: 104,852,994 (GRCm39)	C558F	possibly damaging	Het
Galnt3	T	C	2: 65,924,050 (GRCm39)	E406G	probably damaging	Het
Golga3	T	A	5: 110,332,173 (GRCm39)		probably benign	Het
Gpr179	T	A	11: 97,228,975 (GRCm39)	Q1060L	possibly damaging	Het
Havcr1	A	T	11: 46,647,024 (GRCm39)	I153F	probably benign	Het
Hnrnpc	A	T	14: 52,314,964 (GRCm39)	V141E	probably damaging	Het
Kcnj2	C	T	11: 110,963,297 (GRCm39)	Q230*	probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Limch1	T	C	5: 67,184,904 (GRCm39)	L631P	probably damaging	Het
Lpin1	T	C	12: 16,630,829 (GRCm39)	N23S	possibly damaging	Het
Macf1	A	G	4: 123,366,755 (GRCm39)	S1104P	probably benign	Het
Man2b1	A	G	8: 85,811,088 (GRCm39)	D73G	probably damaging	Het
Marf1	A	G	16: 13,963,942 (GRCm39)	F454L	probably damaging	Het
Mcpt4	T	A	14: 56,298,466 (GRCm39)	I90L	probably benign	Het
Mfsd4b5	T	C	10: 39,846,668 (GRCm39)	E304G	probably damaging	Het
Mst1r	G	A	9: 107,788,750 (GRCm39)	R423H	probably damaging	Het
Muc20	G	A	16: 32,614,846 (GRCm39)	S177L	unknown	Het
Muc5b	A	G	7: 141,412,276 (GRCm39)	T1741A	unknown	Het
Myo1g	C	T	11: 6,465,105 (GRCm39)	A447T	probably benign	Het
Nr1h2	C	A	7: 44,199,840 (GRCm39)	A360S	probably damaging	Het
Nufip1	A	G	14: 76,349,429 (GRCm39)	K154E	probably damaging	Het
Or12k8	T	G	2: 36,974,990 (GRCm39)	M257L	probably benign	Het
Or2a54	T	A	6: 43,092,800 (GRCm39)	N41K	probably damaging	Het
Or7e166	G	A	9: 19,624,630 (GRCm39)	C169Y	probably damaging	Het
Pecr	A	T	1: 72,314,136 (GRCm39)		probably null	Het
Pkd2	G	A	5: 104,634,547 (GRCm39)	R526Q	probably benign	Het
Plec	T	C	15: 76,059,365 (GRCm39)	E3551G	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sarm1	G	A	11: 78,387,945 (GRCm39)	Q114*	probably null	Het
Sec31a	T	C	5: 100,553,370 (GRCm39)	E112G	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc9a2	G	T	1: 40,783,053 (GRCm39)	R439L	probably damaging	Het
Sptb	C	A	12: 76,659,608 (GRCm39)	E1097D	probably benign	Het
Stk38	A	C	17: 29,193,344 (GRCm39)	C362G	probably benign	Het
Stmn2	A	T	3: 8,610,635 (GRCm39)	M40L	probably benign	Het
Sytl2	A	T	7: 90,024,860 (GRCm39)	T283S	probably damaging	Het
Tcf4	A	G	18: 69,775,954 (GRCm39)	S48G	probably damaging	Het
Tlr4	A	T	4: 66,759,616 (GRCm39)	H803L	probably damaging	Het
Ttn	C	T	2: 76,709,432 (GRCm39)		probably benign	Het
Tyk2	G	T	9: 21,018,793 (GRCm39)	Q1099K	probably damaging	Het
Vmn1r175	A	G	7: 23,508,447 (GRCm39)	V60A	possibly damaging	Het
Zc3h12d	C	A	10: 7,743,582 (GRCm39)	P451T	possibly damaging	Het
Zeb2	T	C	2: 44,892,612 (GRCm39)	S146G	probably benign	Het
Zfp236	T	A	18: 82,639,548 (GRCm39)	N1233I	probably damaging	Het
Zfp954	A	G	7: 7,119,022 (GRCm39)	V174A	probably damaging	Het
Zswim1	G	A	2: 164,667,939 (GRCm39)	S397N	probably benign	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
R1184:Usp30	UTSW	5	114,241,888 (GRCm39)	critical splice donor site	probably null
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
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

Posted On

2017-02-14