Mutagenetix > Incidental Mutation

Incidental Mutation 'R7794:Usp30'

600112

Institutional Source

Beutler Lab

Gene Symbol

Usp30

Ensembl Gene

ENSMUSG00000029592

Gene Name

ubiquitin specific peptidase 30

Synonyms

6330590F17Rik, D5Ertd483e

MMRRC Submission

045850-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114238395-114261571 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 114251033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 237 (C237*)

Ref Sequence

ENSEMBL: ENSMUSP00000031588 (fasta)

Gene Model

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

AlphaFold

Q3UN04

Predicted Effect

probably null
Transcript: ENSMUST00000031588
AA Change: C237*

SMART Domains

Protein: ENSMUSP00000031588
Gene: ENSMUSG00000029592
AA Change: C237*

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 null
Transcript: ENSMUST00000200119
AA Change: C236*

SMART Domains

Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592
AA Change: C236*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,117,022 (GRCm39)	M542K	possibly damaging	Het
Abcc3	T	A	11: 94,249,697 (GRCm39)	I1083F	probably benign	Het
Acsm5	A	G	7: 119,137,352 (GRCm39)		probably benign	Het
Acyp1	G	T	12: 85,335,053 (GRCm39)	A22E	probably benign	Het
Afdn	C	A	17: 14,102,695 (GRCm39)	A1090E	probably damaging	Het
Ahdc1	T	G	4: 132,791,289 (GRCm39)	D843E	possibly damaging	Het
Bahcc1	G	T	11: 120,163,507 (GRCm39)	E602*	probably null	Het
Bora	A	G	14: 99,310,080 (GRCm39)	T470A	possibly damaging	Het
Bzw1	T	A	1: 58,439,959 (GRCm39)	S166T	probably benign	Het
Car13	A	G	3: 14,719,948 (GRCm39)	H120R	probably damaging	Het
Cstf3	G	A	2: 104,420,926 (GRCm39)	⇒1	probably benign	Het
Dip2a	T	C	10: 76,112,459 (GRCm39)	N1080D	probably damaging	Het
Dis3	A	G	14: 99,336,233 (GRCm39)	L91P	probably benign	Het
E2f6	A	G	12: 16,870,370 (GRCm39)	D174G	possibly damaging	Het
Emsy	A	T	7: 98,249,931 (GRCm39)	S785R	probably benign	Het
Fbxl17	A	G	17: 63,663,806 (GRCm39)	I561T	probably damaging	Het
Gabra6	A	T	11: 42,211,868 (GRCm39)		probably null	Het
Gm47996	C	G	1: 151,086,545 (GRCm39)	P209A	possibly damaging	Het
Hcls1	A	G	16: 36,782,426 (GRCm39)	E365G	probably damaging	Het
Hoxa6	T	A	6: 52,183,548 (GRCm39)	T166S	possibly damaging	Het
Hydin	A	G	8: 111,235,715 (GRCm39)	Y1900C	probably damaging	Het
I0C0044D17Rik	T	C	4: 98,708,582 (GRCm39)		probably benign	Het
Ifitm7	T	C	16: 13,801,610 (GRCm39)	T50A	probably benign	Het
Igkv10-95	A	G	6: 68,657,811 (GRCm39)	Q109R	possibly damaging	Het
Il1rap	A	T	16: 26,541,658 (GRCm39)	H633L	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Kmt2e	G	A	5: 23,669,714 (GRCm39)	G67D	probably damaging	Het
Kpna6	T	C	4: 129,541,844 (GRCm39)	T518A	probably benign	Het
Marchf11	A	G	15: 26,409,284 (GRCm39)	I328V	probably benign	Het
Mbtps1	A	G	8: 120,265,623 (GRCm39)	I308T	probably damaging	Het
Mug1	A	T	6: 121,833,247 (GRCm39)	D284V	possibly damaging	Het
Myo16	A	G	8: 10,619,913 (GRCm39)	K1488R	unknown	Het
Myom2	G	A	8: 15,133,259 (GRCm39)	G384R	probably damaging	Het
Naa16	A	G	14: 79,614,934 (GRCm39)	Y189H	probably damaging	Het
Nav3	G	A	10: 109,524,717 (GRCm39)	A2304V	probably benign	Het
Or12e10	T	A	2: 87,640,818 (GRCm39)	V218E	probably damaging	Het
Or14c46	T	A	7: 85,918,341 (GRCm39)	I219L	probably damaging	Het
Or14j5	A	T	17: 38,161,678 (GRCm39)	Q65L	probably benign	Het
Orc5	A	T	5: 22,738,782 (GRCm39)	Y160N	possibly damaging	Het
Pan2	T	C	10: 128,152,396 (GRCm39)		probably null	Het
Pcdhb20	A	G	18: 37,637,485 (GRCm39)	R4G	probably benign	Het
Poc1b	A	G	10: 98,965,460 (GRCm39)	S130G	possibly damaging	Het
Psme2b	A	G	11: 48,836,683 (GRCm39)	V88A	probably benign	Het
Ptpn13	C	T	5: 103,640,090 (GRCm39)	T183M	probably benign	Het
Ptpn4	T	C	1: 119,653,767 (GRCm39)	E275G	probably damaging	Het
Rab21	A	T	10: 115,134,762 (GRCm39)	L119*	probably null	Het
Rep15	T	A	6: 146,934,638 (GRCm39)	I159N	probably damaging	Het
Rps6kc1	T	C	1: 190,515,825 (GRCm39)	E967G	probably benign	Het
Rptn	G	A	3: 93,303,036 (GRCm39)	R123K	probably benign	Het
Scn11a	A	T	9: 119,594,580 (GRCm39)	V1271D	probably damaging	Het
Scn5a	A	T	9: 119,358,153 (GRCm39)	I696N	probably damaging	Het
Slc25a12	T	C	2: 71,141,852 (GRCm39)	E267G	probably damaging	Het
Slc5a4b	A	T	10: 75,898,133 (GRCm39)	M527K	probably benign	Het
Spata31e4	C	G	13: 50,856,344 (GRCm39)	P661A	probably damaging	Het
Speg	T	A	1: 75,365,514 (GRCm39)	S632T	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Synrg	G	T	11: 83,910,400 (GRCm39)	M933I	probably benign	Het
Tmem178b	A	T	6: 40,222,551 (GRCm39)	I89F	probably damaging	Het
Tyr	C	T	7: 87,133,028 (GRCm39)		probably null	Het
Xpo6	G	T	7: 125,760,035 (GRCm39)	T188K	probably damaging	Het
Zfp382	G	A	7: 29,831,035 (GRCm39)	S108N	possibly damaging	Het
Zfp820	A	C	17: 22,039,109 (GRCm39)	V73G	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
R7654:Usp30	UTSW	5	114,240,506 (GRCm39)	missense	probably damaging	1.00
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'- CAGGACCATTTTCCTAGAGGG -3'
(R):5'- CAATCTGTCGACAGCAGCTC -3'

Sequencing Primer
(F):5'- ACCATTTTCCTAGAGGGGGAGC -3'
(R):5'- TGCTCCTGGGGCAGATG -3'

Posted On

2019-11-26