Incidental Mutation 'R9035:Usp30'
ID 687298
Institutional Source Beutler Lab
Gene Symbol Usp30
Ensembl Gene ENSMUSG00000029592
Gene Name ubiquitin specific peptidase 30
Synonyms 6330590F17Rik, D5Ertd483e
MMRRC Submission 068864-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9035 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 114238395-114261571 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114243877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 149 (M149V)
Ref Sequence ENSEMBL: ENSMUSP00000031588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031588] [ENSMUST00000200119] [ENSMUST00000202603]
AlphaFold Q3UN04
Predicted Effect probably benign
Transcript: ENSMUST00000031588
AA Change: M149V

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000031588
Gene: ENSMUSG00000029592
AA Change: M149V

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 probably benign
Transcript: ENSMUST00000200119
AA Change: M149V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592
AA Change: M149V

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
Predicted Effect probably benign
Transcript: ENSMUST00000202603
AA Change: M133V

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144522
Gene: ENSMUSG00000029592
AA Change: M133V

DomainStartEndE-ValueType
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: 99.5%
  • 20x: 98.3%
Validation Efficiency 99% (90/91)
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
Abca9 A G 11: 110,021,461 (GRCm39) L1083P probably damaging Het
Anxa7 G T 14: 20,510,460 (GRCm39) T356K probably damaging Het
Atg16l1 T C 1: 87,693,167 (GRCm39) probably null Het
Bptf A G 11: 106,963,842 (GRCm39) V1784A probably damaging Het
Cabs1 T C 5: 88,128,309 (GRCm39) V320A probably damaging Het
Camta1 A C 4: 151,229,159 (GRCm39) S558A probably benign Het
Ccdc180 A T 4: 45,906,922 (GRCm39) K466* probably null Het
Cdhr1 G A 14: 36,810,924 (GRCm39) P279L possibly damaging Het
Cenpe A G 3: 134,976,572 (GRCm39) N2393S probably benign Het
Cep104 T C 4: 154,063,462 (GRCm39) V8A probably benign Het
Chaf1a T A 17: 56,371,110 (GRCm39) V665E probably damaging Het
Clasp1 T A 1: 118,431,583 (GRCm39) D404E probably damaging Het
Clnk G A 5: 38,907,751 (GRCm39) T169I possibly damaging Het
Cnst G A 1: 179,437,587 (GRCm39) A384T possibly damaging Het
Ctnnd2 T A 15: 30,332,162 (GRCm39) M15K possibly damaging Het
Dlgap1 T A 17: 70,823,855 (GRCm39) L280Q possibly damaging Het
Dll1 T C 17: 15,588,959 (GRCm39) K572R probably benign Het
Dnai4 T A 4: 102,905,499 (GRCm39) K761* probably null Het
Dolk C A 2: 30,174,542 (GRCm39) W501L probably damaging Het
Ednrb G A 14: 104,080,665 (GRCm39) P83L probably benign Het
Edrf1 T C 7: 133,245,431 (GRCm39) W190R probably damaging Het
Epha5 T A 5: 84,255,886 (GRCm39) D468V probably damaging Het
Fat2 G T 11: 55,194,547 (GRCm39) P1164Q probably damaging Het
Fbln5 A T 12: 101,717,041 (GRCm39) V436E probably damaging Het
Fbxw10 G T 11: 62,758,449 (GRCm39) R558L possibly damaging Het
Fhod3 C A 18: 25,161,140 (GRCm39) S557R probably benign Het
Gmip A T 8: 70,273,298 (GRCm39) H863L probably damaging Het
Grm3 A T 5: 9,620,464 (GRCm39) I260N probably damaging Het
Gtpbp8 G A 16: 44,566,511 (GRCm39) P64S probably benign Het
Hand1 A C 11: 57,722,548 (GRCm39) M22R probably benign Het
Ift70b T C 2: 75,767,596 (GRCm39) T386A probably benign Het
Igsf21 A G 4: 139,884,782 (GRCm39) V58A probably damaging Het
Ikzf2 G A 1: 69,578,637 (GRCm39) R291* probably null Het
Itih4 C G 14: 30,618,650 (GRCm39) P687R probably benign Het
Kifc3 C T 8: 95,853,195 (GRCm39) D54N possibly damaging Het
Kmt2c G T 5: 25,524,010 (GRCm39) Q1739K probably damaging Het
Krtap4-1 G T 11: 99,518,708 (GRCm39) R101S unknown Het
L3mbtl2 T A 15: 81,560,744 (GRCm39) probably benign Het
Lcor A T 19: 41,573,399 (GRCm39) H718L probably benign Het
Lrrc73 T C 17: 46,565,293 (GRCm39) I8T probably damaging Het
Med19 C A 2: 84,516,532 (GRCm39) probably benign Het
Mgarp C T 3: 51,296,264 (GRCm39) S246N unknown Het
Mkrn2 T C 6: 115,594,681 (GRCm39) S414P possibly damaging Het
Mucl2 C T 15: 103,926,279 (GRCm39) R137H unknown Het
Myo1g A G 11: 6,464,916 (GRCm39) Y453H probably damaging Het
Nacc2 C A 2: 25,951,605 (GRCm39) R410L probably damaging Het
Ndufs3 C T 2: 90,725,217 (GRCm39) R210H probably damaging Het
Nlgn1 G T 3: 25,488,595 (GRCm39) T580K probably damaging Het
Nobox A T 6: 43,284,522 (GRCm39) D41E probably damaging Het
Nsd1 A G 13: 55,393,667 (GRCm39) R526G possibly damaging Het
Nt5e A G 9: 88,246,873 (GRCm39) M370V probably benign Het
Olfm5 T A 7: 103,803,099 (GRCm39) N455Y probably damaging Het
Or2g7 T C 17: 38,378,179 (GRCm39) V39A probably benign Het
Or4c101 T A 2: 88,389,863 (GRCm39) F6I probably damaging Het
Or52e19 T C 7: 102,959,186 (GRCm39) I86T probably damaging Het
Or8g50 G A 9: 39,648,886 (GRCm39) M258I probably benign Het
Or8k33 T A 2: 86,384,021 (GRCm39) Y149F probably damaging Het
Pcdhac2 T C 18: 37,277,758 (GRCm39) V246A probably damaging Het
Pclo A T 5: 14,763,192 (GRCm39) Q603H Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,573,176 (GRCm39) Q1910L probably damaging Het
Plg C A 17: 12,609,107 (GRCm39) Y137* probably null Het
Prkra T C 2: 76,460,856 (GRCm39) I281V probably benign Het
Prrc2c A C 1: 162,503,295 (GRCm39) L2722R possibly damaging Het
Prss12 A G 3: 123,279,149 (GRCm39) T409A probably damaging Het
Rnaseh1 A G 12: 28,708,290 (GRCm39) Q256R probably benign Het
Rpp14 T A 14: 8,083,772 (GRCm38) Y17N possibly damaging Het
Ryr1 A T 7: 28,790,422 (GRCm39) H1468Q probably damaging Het
Scp2 C T 4: 107,912,717 (GRCm39) V463M probably damaging Het
Sf3b4 C A 3: 96,080,381 (GRCm39) H43Q probably damaging Het
Sgpp1 T C 12: 75,782,238 (GRCm39) S34G probably benign Het
Shisa9 T A 16: 11,802,902 (GRCm39) I153N probably damaging Het
Sin3b C A 8: 73,450,092 (GRCm39) P3H unknown Het
Slc15a2 C A 16: 36,602,719 (GRCm39) K47N possibly damaging Het
Slc30a6 T A 17: 74,726,586 (GRCm39) F297L probably benign Het
Slc45a3 TGGGG TGGGGG 1: 131,909,187 (GRCm39) probably null Het
Slfn4 A T 11: 83,077,476 (GRCm39) D88V probably benign Het
Tgs1 C A 4: 3,593,491 (GRCm39) Q460K probably benign Het
Tlr11 A T 14: 50,598,434 (GRCm39) D140V probably benign Het
Tmem215 T A 4: 40,473,945 (GRCm39) N7K probably damaging Het
Tmem245 T C 4: 56,922,384 (GRCm39) probably benign Het
Tnfsf10 G A 3: 27,389,379 (GRCm39) D147N probably benign Het
Tpm1 A G 9: 66,955,138 (GRCm39) L57P possibly damaging Het
Trappc10 T C 10: 78,043,723 (GRCm39) probably benign Het
Trmt9b C T 8: 36,978,954 (GRCm39) R186* probably null Het
Ttn T C 2: 76,593,061 (GRCm39) T20730A possibly damaging Het
Uap1 A T 1: 169,977,013 (GRCm39) Y395* probably null Het
Usp2 A T 9: 43,987,176 (GRCm39) D158V probably damaging Het
Vmn2r2 T C 3: 64,024,172 (GRCm39) N803S probably damaging Het
Vmn2r85 A G 10: 130,261,479 (GRCm39) V286A probably benign Het
Xdh T C 17: 74,217,222 (GRCm39) H682R probably benign Het
Zbed3 T A 13: 95,472,999 (GRCm39) L141Q probably damaging Het
Zfp623 T C 15: 75,820,162 (GRCm39) C373R possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CACTGTGTGAGGCTCCAAAG -3'
(R):5'- CTCTCTGCTCACATCAGGAGATC -3'

Sequencing Primer
(F):5'- CTGTGTGAGGCTCCAAAGAACTTG -3'
(R):5'- TGCTCACATCAGGAGATCTAACAAG -3'
Posted On 2021-11-19