Mutagenetix > Incidental Mutation

Incidental Mutation 'R5956:Usp30'

471175

Institutional Source

Beutler Lab

Gene Symbol

Usp30

Ensembl Gene

ENSMUSG00000029592

Gene Name

ubiquitin specific peptidase 30

Synonyms

6330590F17Rik, D5Ertd483e

MMRRC Submission

044144-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5956 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

114238395-114261571 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114257682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 280 (R280Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031588] [ENSMUST00000053657] [ENSMUST00000112279] [ENSMUST00000200119]

AlphaFold

Q3UN04

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031588
AA Change: R280Q

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031588
Gene: ENSMUSG00000029592
AA Change: R280Q

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 benign
Transcript: ENSMUST00000053657

SMART Domains

Protein: ENSMUSP00000056043
Gene: ENSMUSG00000044339

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
Pfam:2OG-FeII_Oxy_2	47	232	1.9e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112279

SMART Domains

Protein: ENSMUSP00000107898
Gene: ENSMUSG00000044339

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
Pfam:2OG-FeII_Oxy_2	47	232	5.4e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197936

Predicted Effect

probably benign
Transcript: ENSMUST00000200119
AA Change: R279Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592
AA Change: R279Q

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

Meta Mutation Damage Score

0.0802

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (63/64)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,203,893 (GRCm39)	I398K	possibly damaging	Het
Acad9	A	G	3: 36,129,323 (GRCm39)		probably benign	Het
Acsm2	T	C	7: 119,153,704 (GRCm39)	S5P	unknown	Het
Akp3	T	C	1: 87,054,667 (GRCm39)	I334T	probably damaging	Het
Amy1	C	T	3: 113,357,311 (GRCm39)	R176H	probably benign	Het
Ank2	A	T	3: 126,736,337 (GRCm39)		probably benign	Het
Cav1	C	A	6: 17,307,918 (GRCm39)	N23K	probably damaging	Het
Cep126	A	G	9: 8,112,120 (GRCm39)	V151A	probably benign	Het
Cnot1	A	G	8: 96,481,606 (GRCm39)		probably null	Het
Crim1	T	A	17: 78,623,146 (GRCm39)	V448E	probably damaging	Het
Csmd3	T	C	15: 48,655,278 (GRCm39)	E8G	possibly damaging	Het
Ddx31	A	T	2: 28,764,185 (GRCm39)	I464F	probably damaging	Het
Ddx54	A	G	5: 120,764,432 (GRCm39)		probably benign	Het
Dhx16	A	G	17: 36,193,762 (GRCm39)	E319G	probably damaging	Het
Efl1	A	G	7: 82,301,107 (GRCm39)	D37G	probably damaging	Het
Epha5	T	C	5: 84,298,228 (GRCm39)	R444G	probably damaging	Het
Exoc2	C	A	13: 31,004,606 (GRCm39)	C859F	probably benign	Het
Gbx2	T	C	1: 89,860,908 (GRCm39)		probably benign	Het
Gm12258	G	A	11: 58,750,285 (GRCm39)	A9T	probably benign	Het
Gpr141b	T	G	13: 19,913,300 (GRCm39)		noncoding transcript	Het
Grm4	A	G	17: 27,654,129 (GRCm39)	V607A	probably benign	Het
Gvin3	T	C	7: 106,200,677 (GRCm39)		noncoding transcript	Het
Ighv1-74	C	A	12: 115,766,455 (GRCm39)	W55L	probably damaging	Het
Irx4	C	A	13: 73,415,626 (GRCm39)	Y138*	probably null	Het
Itpr1	C	A	6: 108,482,988 (GRCm39)	T2352K	probably benign	Het
Kcnk3	T	G	5: 30,745,854 (GRCm39)	V65G	probably damaging	Het
Mctp2	T	C	7: 71,908,923 (GRCm39)	E130G	probably benign	Het
Mgat5	C	A	1: 127,310,676 (GRCm39)	R197S	probably benign	Het
Mpg	T	C	11: 32,177,951 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,417,910 (GRCm39)	C3619R	probably damaging	Het
Myo15b	G	A	11: 115,764,583 (GRCm39)	V1321I	probably benign	Het
Myo1b	T	C	1: 51,815,391 (GRCm39)	T658A	probably damaging	Het
Nomo1	T	C	7: 45,692,037 (GRCm39)	S154P	possibly damaging	Het
Nsd1	T	A	13: 55,411,217 (GRCm39)	F1423I	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or9g3	A	G	2: 85,584,183 (GRCm39)		probably benign	Het
Osbpl6	A	G	2: 76,379,856 (GRCm39)	R149G	probably damaging	Het
Pacc1	A	G	1: 191,080,568 (GRCm39)	S263G	probably damaging	Het
Papola	T	A	12: 105,777,300 (GRCm39)	W281R	probably damaging	Het
Pole	C	T	5: 110,485,153 (GRCm39)		probably benign	Het
Rptn	A	G	3: 93,305,334 (GRCm39)	N889S	possibly damaging	Het
Scn10a	A	G	9: 119,460,626 (GRCm39)	S1084P	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Siglece	T	C	7: 43,308,760 (GRCm39)	T198A	probably damaging	Het
Sptb	T	A	12: 76,650,942 (GRCm39)	M1678L	probably benign	Het
Taf8	A	T	17: 47,809,467 (GRCm39)	M98K	probably damaging	Het
Tead2	T	A	7: 44,870,138 (GRCm39)		probably benign	Het
Trrap	C	T	5: 144,744,201 (GRCm39)		silent	Het
Ttn	G	T	2: 76,775,914 (GRCm39)	N1709K	probably damaging	Het
Ube3a	T	C	7: 58,926,768 (GRCm39)		probably benign	Het
Ube3c	T	C	5: 29,804,054 (GRCm39)		probably benign	Het
Unc80	T	C	1: 66,567,123 (GRCm39)	S910P	probably damaging	Het
Vsx1	T	C	2: 150,530,457 (GRCm39)	S142G	possibly damaging	Het
Wdr95	T	G	5: 149,517,947 (GRCm39)	C360G	probably benign	Het
Zbtb4	A	G	11: 69,669,040 (GRCm39)	I588V	probably benign	Het
Zdhhc4	A	T	5: 143,310,604 (GRCm39)		probably benign	Het
Zfp568	C	A	7: 29,697,288 (GRCm39)	N69K	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
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'- GTACAAATGCAGGTCCCCTCAG -3'
(R):5'- AGCTTCTGGGGACAATTCTAG -3'

Sequencing Primer
(F):5'- CCTCCTGAGCCTGTGTGAGTG -3'
(R):5'- GGGACAATTCTAGACATCTTGGCC -3'

Posted On

2017-03-31