Mutagenetix > Incidental Mutation

Incidental Mutation 'R7654:Usp30'

591061

Institutional Source

Beutler Lab

Gene Symbol

Usp30

Ensembl Gene

ENSMUSG00000029592

Gene Name

ubiquitin specific peptidase 30

Synonyms

6330590F17Rik, D5Ertd483e

MMRRC Submission

045702-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7654 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114238395-114261571 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114240506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 49 (I49N)

Ref Sequence

ENSEMBL: ENSMUSP00000031588 (fasta)

Gene Model

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

AlphaFold

Q3UN04

Predicted Effect

probably damaging
Transcript: ENSMUST00000031588
AA Change: I49N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031588
Gene: ENSMUSG00000029592
AA Change: I49N

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

probably damaging
Transcript: ENSMUST00000200119
AA Change: I49N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592
AA Change: I49N

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 damaging
Transcript: ENSMUST00000202603
AA Change: I33N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144522
Gene: ENSMUSG00000029592
AA Change: I33N

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,815,032 (GRCm39)	V1140M	possibly damaging	Het
Adamtsl3	A	C	7: 82,223,702 (GRCm39)	E1161A	probably benign	Het
Adcy5	T	C	16: 35,091,317 (GRCm39)	S587P	probably damaging	Het
Aebp2	T	A	6: 140,599,474 (GRCm39)		probably null	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Ankhd1	T	C	18: 36,727,154 (GRCm39)	V423A	probably damaging	Het
Arid1b	T	A	17: 5,341,360 (GRCm39)	M888K	possibly damaging	Het
Asl	C	A	5: 130,047,231 (GRCm39)	R122S	probably damaging	Het
B3gntl1	T	A	11: 121,542,439 (GRCm39)	D109V	probably damaging	Het
Cat	G	A	2: 103,290,709 (GRCm39)	P402S	probably damaging	Het
Ccdc141	A	T	2: 76,872,822 (GRCm39)	Y787N	probably benign	Het
Ccdc78	T	C	17: 26,009,085 (GRCm39)	Y405H	probably damaging	Het
Ces1f	T	G	8: 93,998,562 (GRCm39)	K145Q	probably benign	Het
Cfap65	A	T	1: 74,972,303 (GRCm39)	C19S	probably benign	Het
CN725425	T	A	15: 91,123,638 (GRCm39)	I118N	probably benign	Het
Ctc1	C	T	11: 68,917,041 (GRCm39)	P312S	probably damaging	Het
Ctsa	C	T	2: 164,680,853 (GRCm39)	T442I	probably benign	Het
Cyp2b9	A	G	7: 25,886,367 (GRCm39)	T131A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,154,636 (GRCm39)	M1181T	probably damaging	Het
Dagla	C	G	19: 10,225,570 (GRCm39)	G865R	probably benign	Het
Dst	A	C	1: 34,268,058 (GRCm39)	K3153Q	probably damaging	Het
Dst	A	T	1: 34,268,059 (GRCm39)	K3153M	probably damaging	Het
Dync2h1	A	T	9: 7,122,664 (GRCm39)	H2097Q	probably damaging	Het
Etnppl	A	G	3: 130,423,160 (GRCm39)	I286M	probably benign	Het
Flvcr1	A	T	1: 190,743,802 (GRCm39)	M418K	possibly damaging	Het
Fuca1	T	C	4: 135,657,232 (GRCm39)	S215P	probably damaging	Het
Gabrg1	T	C	5: 70,935,504 (GRCm39)	K222E	probably benign	Het
Gdpd5	G	A	7: 99,073,396 (GRCm39)	R26H	probably damaging	Het
Gnptab	T	A	10: 88,281,681 (GRCm39)	S1229R	possibly damaging	Het
Gpt	A	G	15: 76,582,530 (GRCm39)	E256G	probably benign	Het
Hif3a	C	T	7: 16,783,021 (GRCm39)	V261I	probably damaging	Het
Hmcn2	A	G	2: 31,236,581 (GRCm39)	T375A	probably benign	Het
Hspa4	C	A	11: 53,190,951 (GRCm39)	V15F	probably damaging	Het
Il18	A	G	9: 50,490,701 (GRCm39)	N112S	possibly damaging	Het
Inpp4a	A	G	1: 37,413,179 (GRCm39)		probably null	Het
Knop1	A	G	7: 118,445,032 (GRCm39)	S525P	unknown	Het
Leo1	A	T	9: 75,362,961 (GRCm39)	Y461F	possibly damaging	Het
Med1	C	T	11: 98,060,189 (GRCm39)	V247I	possibly damaging	Het
Mpnd	T	G	17: 56,317,489 (GRCm39)	H159Q	probably benign	Het
Msl1	A	G	11: 98,686,937 (GRCm39)	E94G	possibly damaging	Het
Mthfd2l	A	T	5: 91,094,665 (GRCm39)	I45F	probably damaging	Het
Neurl1b	T	A	17: 26,657,671 (GRCm39)	L203Q	probably benign	Het
Or5m12	G	T	2: 85,734,663 (GRCm39)	T245N	possibly damaging	Het
Otoa	T	G	7: 120,746,923 (GRCm39)	L896R	probably damaging	Het
Pcdhac2	T	A	18: 37,278,076 (GRCm39)	V352E	probably damaging	Het
Pcsk5	T	A	19: 17,434,168 (GRCm39)	K1400I	possibly damaging	Het
Pcx	T	A	19: 4,565,697 (GRCm39)		probably null	Het
Pds5a	A	G	5: 65,776,324 (GRCm39)	V90A	probably damaging	Het
Pgam2	T	C	11: 5,753,351 (GRCm39)	K113R	probably null	Het
Phkb	G	T	8: 86,667,516 (GRCm39)	R266L	possibly damaging	Het
Phtf2	A	G	5: 20,987,459 (GRCm39)	S346P	probably damaging	Het
Pkd1l3	G	A	8: 110,365,049 (GRCm39)	A1144T	probably damaging	Het
Plbd1	T	C	6: 136,628,864 (GRCm39)	Y68C	possibly damaging	Het
Polk	T	C	13: 96,633,321 (GRCm39)	T241A	probably benign	Het
Ppfibp2	T	A	7: 107,337,818 (GRCm39)	D635E	probably damaging	Het
Ppip5k1	G	A	2: 121,179,040 (GRCm39)	R229W	probably damaging	Het
Ptpn20	A	G	14: 33,360,281 (GRCm39)	D386G	probably benign	Het
Rab22a	T	C	2: 173,529,968 (GRCm39)	Y49H	probably benign	Het
Rab3gap1	A	G	1: 127,837,652 (GRCm39)	D238G	probably damaging	Het
Rbp3	T	C	14: 33,677,797 (GRCm39)	S582P	probably benign	Het
Rcbtb2	T	C	14: 73,411,941 (GRCm39)	V410A	probably benign	Het
Sh3rf2	A	G	18: 42,237,173 (GRCm39)	E232G	probably damaging	Het
Shroom1	T	A	11: 53,357,735 (GRCm39)	V762E	probably benign	Het
Speer4f2	A	T	5: 17,579,413 (GRCm39)	M71L		Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Tgfb1	A	T	7: 25,387,120 (GRCm39)		probably benign	Het
Tnik	C	T	3: 28,658,334 (GRCm39)	R540C	probably damaging	Het
Tti1	A	T	2: 157,850,474 (GRCm39)	I255N	probably benign	Het
Ttn	T	C	2: 76,727,490 (GRCm39)	S5739G	unknown	Het
Umad1	G	A	6: 8,426,995 (GRCm39)	V57M	probably damaging	Het
Usp7	G	A	16: 8,519,907 (GRCm39)	T398I	probably benign	Het
Vmn2r65	A	G	7: 84,590,261 (GRCm39)	Y552H	probably damaging	Het
Zfp616	A	G	11: 73,974,013 (GRCm39)	N185S	possibly damaging	Het
Zfp804b	T	A	5: 6,819,458 (GRCm39)	T1202S	probably damaging	Het
Zfyve28	A	T	5: 34,400,539 (GRCm39)	V53D	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
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
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
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'- GCTCAAGTATCCCAAATTCCAAGG -3'
(R):5'- ACAGGGTGGGGAGTTCTACTTC -3'

Sequencing Primer
(F):5'- CCAAGGCAAGGTCTTATTGGTAC -3'
(R):5'- AGTTCTACTTCGTAGACCATGG -3'

Posted On

2019-11-12