Incidental Mutation 'R2127:Usp30'
ID 227605
Institutional Source Beutler Lab
Gene Symbol Usp30
Ensembl Gene ENSMUSG00000029592
Gene Name ubiquitin specific peptidase 30
Synonyms 6330590F17Rik, D5Ertd483e
MMRRC Submission 040130-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2127 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 114238395-114261571 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114249224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 176 (E176G)
Ref Sequence ENSEMBL: ENSMUSP00000142350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031588] [ENSMUST00000200119]
AlphaFold Q3UN04
Predicted Effect probably damaging
Transcript: ENSMUST00000031588
AA Change: E176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031588
Gene: ENSMUSG00000029592
AA Change: E176G

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000197629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198457
Predicted Effect probably damaging
Transcript: ENSMUST00000200119
AA Change: E176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592
AA Change: E176G

DomainStartEndE-ValueType
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 0.7737 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (93/95)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik T A 5: 146,441,752 (GRCm39) S300T possibly damaging Het
A2ml1 A C 6: 128,535,400 (GRCm39) V770G probably damaging Het
Abca6 A G 11: 110,110,475 (GRCm39) I558T probably benign Het
Abhd17c C A 7: 83,759,870 (GRCm39) G295W probably damaging Het
Actn3 G A 19: 4,921,703 (GRCm39) A159V probably damaging Het
Adgrv1 A T 13: 81,705,199 (GRCm39) F1537Y probably damaging Het
Agbl1 G T 7: 76,069,628 (GRCm39) V373F possibly damaging Het
Aldh1a1 A T 19: 20,620,279 (GRCm39) E485D probably benign Het
Amdhd2 A G 17: 24,377,282 (GRCm39) probably null Het
Armc3 A G 2: 19,206,622 (GRCm39) D15G probably damaging Het
Atp2b2 A G 6: 113,737,611 (GRCm39) L921P probably damaging Het
Btbd16 A G 7: 130,386,038 (GRCm39) N88S probably benign Het
Capn10 T A 1: 92,865,756 (GRCm39) C77* probably null Het
Caskin1 T C 17: 24,715,970 (GRCm39) probably null Het
Catsper4 T C 4: 133,941,117 (GRCm39) D254G probably benign Het
Catsperg1 T C 7: 28,884,465 (GRCm39) D958G probably damaging Het
Ccar2 T G 14: 70,377,100 (GRCm39) K787Q probably benign Het
Ccdc191 C T 16: 43,728,998 (GRCm39) T244I probably benign Het
Cd33 A T 7: 43,179,699 (GRCm39) L243Q possibly damaging Het
Cdc37 T C 9: 21,061,143 (GRCm39) Y4C probably damaging Het
Cenpe T G 3: 134,945,541 (GRCm39) N1018K probably benign Het
Crocc G A 4: 140,744,407 (GRCm39) R1830C probably damaging Het
Csmd1 T C 8: 15,967,392 (GRCm39) D3157G probably damaging Het
Dhx57 C T 17: 80,580,477 (GRCm39) V492M probably damaging Het
Dnah2 A T 11: 69,349,011 (GRCm39) I2486N probably benign Het
Dnhd1 C T 7: 105,342,928 (GRCm39) T1424I possibly damaging Het
Dsc3 C T 18: 20,101,411 (GRCm39) A661T probably benign Het
F930015N05Rik A G 11: 64,326,229 (GRCm39) probably benign Het
Fbxo34 C A 14: 47,767,563 (GRCm39) R308S probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gm11595 A T 11: 99,663,327 (GRCm39) C118S unknown Het
Gm9742 A T 13: 8,085,011 (GRCm39) noncoding transcript Het
Gmeb2 G A 2: 180,900,842 (GRCm39) A185V probably benign Het
Gpr15 A G 16: 58,538,618 (GRCm39) V157A possibly damaging Het
Gpr3 C T 4: 132,937,932 (GRCm39) A247T probably damaging Het
Grin2b A C 6: 135,755,698 (GRCm39) S539A probably benign Het
Hmbs T C 9: 44,252,004 (GRCm39) T92A probably benign Het
Inpp4a A G 1: 37,406,000 (GRCm39) M173V probably benign Het
Irx4 T A 13: 73,413,595 (GRCm39) S22T probably benign Het
Jph3 C T 8: 122,511,881 (GRCm39) A623V probably benign Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Ksr1 G A 11: 78,924,139 (GRCm39) S361L probably damaging Het
Lyst T G 13: 13,809,847 (GRCm39) Y506D probably damaging Het
Mctp1 A G 13: 76,972,941 (GRCm39) D648G probably damaging Het
Megf8 T C 7: 25,064,007 (GRCm39) S2788P possibly damaging Het
Mfsd2b T A 12: 4,917,659 (GRCm39) Y129F probably benign Het
Mindy4 T C 6: 55,195,250 (GRCm39) S155P probably benign Het
Mospd4 A G 18: 46,598,731 (GRCm39) noncoding transcript Het
Myo18b A T 5: 112,978,944 (GRCm39) L1223Q probably damaging Het
Nckipsd A G 9: 108,688,932 (GRCm39) T156A probably benign Het
Ndst1 G A 18: 60,824,280 (GRCm39) T799I probably benign Het
Npffr2 A T 5: 89,715,924 (GRCm39) I84F probably damaging Het
Nphp3 G A 9: 103,885,442 (GRCm39) V167M probably damaging Het
Nup107 C A 10: 117,610,380 (GRCm39) R354L possibly damaging Het
Olfml2a T C 2: 38,831,699 (GRCm39) C93R probably damaging Het
Or12e10 A G 2: 87,640,685 (GRCm39) I174V probably benign Het
Or1e25 C G 11: 73,493,631 (GRCm39) S75C possibly damaging Het
Or5l14 A T 2: 87,793,176 (GRCm39) V20D probably benign Het
Pappa T A 4: 65,215,494 (GRCm39) L1134M probably damaging Het
Plscr4 T G 9: 92,370,683 (GRCm39) F217V possibly damaging Het
Pnpla8 T A 12: 44,354,840 (GRCm39) Y667N probably benign Het
Polg A G 7: 79,114,676 (GRCm39) L95P probably damaging Het
Psg20 T G 7: 18,416,643 (GRCm39) I158L probably damaging Het
Pwwp2a A G 11: 43,596,145 (GRCm39) S437G probably benign Het
Rdx A G 9: 51,981,032 (GRCm39) M305V possibly damaging Het
Rinl A G 7: 28,496,168 (GRCm39) E383G probably damaging Het
Ror1 A G 4: 100,299,290 (GRCm39) M888V probably benign Het
Rps12 A T 10: 23,662,776 (GRCm39) I22K possibly damaging Het
Rtca C A 3: 116,291,323 (GRCm39) R219L possibly damaging Het
Ryr2 G A 13: 11,727,081 (GRCm39) P2427S probably damaging Het
Slc10a6 A G 5: 103,756,922 (GRCm39) Y281H probably benign Het
Slc39a11 A G 11: 113,260,629 (GRCm39) S176P probably benign Het
Slfn10-ps A G 11: 82,921,168 (GRCm39) noncoding transcript Het
Spef2 T C 15: 9,729,747 (GRCm39) T124A possibly damaging Het
Sult2a4 G T 7: 13,649,185 (GRCm39) P207Q probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tcstv1a T C 13: 120,355,282 (GRCm39) T117A probably damaging Het
Tha1 A G 11: 117,760,600 (GRCm39) V208A probably damaging Het
Tmbim4 T A 10: 120,060,658 (GRCm39) I215N probably damaging Het
Tmem202 T A 9: 59,427,483 (GRCm39) I122F probably benign Het
Tomm70a T C 16: 56,942,234 (GRCm39) S4P unknown Het
Tpcn2 A G 7: 144,827,712 (GRCm39) probably benign Het
Trim36 A T 18: 46,345,404 (GRCm39) F10I probably benign Het
Usp8 T G 2: 126,579,495 (GRCm39) probably null Het
Vmn1r32 T A 6: 66,530,533 (GRCm39) Y81F probably benign Het
Vps36 G T 8: 22,708,305 (GRCm39) probably null Het
Wdr87-ps T C 7: 29,236,565 (GRCm39) noncoding transcript Het
Wnt3 A G 11: 103,703,474 (GRCm39) H319R possibly damaging Het
Zfp319 A T 8: 96,050,391 (GRCm39) probably benign Het
Zfp408 T C 2: 91,475,519 (GRCm39) E545G probably damaging Het
Zfp799 C T 17: 33,038,472 (GRCm39) R598Q possibly damaging Het
Zfp831 T C 2: 174,489,917 (GRCm39) V1228A probably benign Het
Zfp938 T C 10: 82,061,876 (GRCm39) D248G probably benign Het
Other mutations in Usp30
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTTTTAAAGCAAGCCCCTGC -3'
(R):5'- ACAAAGACTGTGTGCCCTGTC -3'

Sequencing Primer
(F):5'- CTCCTTCAGTTATTGGGACTCAGAG -3'
(R):5'- GTCCTTATTGATCATGCACACACTG -3'
Posted On 2014-09-17