Incidental Mutation 'R7859:Usp54'
ID 607383
Institutional Source Beutler Lab
Gene Symbol Usp54
Ensembl Gene ENSMUSG00000034235
Gene Name ubiquitin specific peptidase 54
Synonyms 4930429G18Rik, C030002J06Rik
MMRRC Submission 045912-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7859 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 20598980-20691131 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20638204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 255 (E255G)
Ref Sequence ENSEMBL: ENSMUSP00000022356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022356] [ENSMUST00000035340]
AlphaFold Q8BL06
Predicted Effect probably benign
Transcript: ENSMUST00000022356
AA Change: E255G

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: E255G

DomainStartEndE-ValueType
Pfam:UCH 30 349 2.4e-23 PFAM
Pfam:UCH_1 31 324 2.1e-7 PFAM
low complexity region 403 412 N/A INTRINSIC
low complexity region 439 445 N/A INTRINSIC
low complexity region 498 513 N/A INTRINSIC
low complexity region 601 616 N/A INTRINSIC
coiled coil region 682 712 N/A INTRINSIC
low complexity region 808 826 N/A INTRINSIC
low complexity region 881 894 N/A INTRINSIC
low complexity region 1002 1020 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000035340
AA Change: E255G

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: E255G

DomainStartEndE-ValueType
Pfam:UCH 31 349 2.3e-21 PFAM
low complexity region 403 412 N/A INTRINSIC
low complexity region 439 445 N/A INTRINSIC
low complexity region 498 513 N/A INTRINSIC
low complexity region 601 616 N/A INTRINSIC
coiled coil region 682 712 N/A INTRINSIC
low complexity region 808 826 N/A INTRINSIC
low complexity region 881 894 N/A INTRINSIC
low complexity region 1002 1020 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123287
SMART Domains Protein: ENSMUSP00000117503
Gene: ENSMUSG00000034235

DomainStartEndE-ValueType
low complexity region 82 95 N/A INTRINSIC
low complexity region 156 165 N/A INTRINSIC
low complexity region 192 198 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,603,500 (GRCm39) L564P probably damaging Het
Arsb T A 13: 93,998,615 (GRCm39) S308T probably benign Het
Atxn10 A G 15: 85,346,526 (GRCm39) D428G probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Cd300a T C 11: 114,784,165 (GRCm39) Y58H probably benign Het
Cemip2 T A 19: 21,809,539 (GRCm39) I973N possibly damaging Het
Crkl T A 16: 17,286,960 (GRCm39) M172K probably damaging Het
Cyfip1 T C 7: 55,549,774 (GRCm39) I647T probably damaging Het
Dlgap1 A G 17: 70,823,683 (GRCm39) T223A probably benign Het
Dmtf1 T C 5: 9,178,044 (GRCm39) S372G probably damaging Het
Dock8 G A 19: 25,160,934 (GRCm39) V1814M probably damaging Het
Dusp22 A C 13: 30,892,737 (GRCm39) K171N probably benign Het
Evi2a T C 11: 79,418,452 (GRCm39) S53G probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kndc1 A T 7: 139,500,880 (GRCm39) D723V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mcur1 G A 13: 43,713,485 (GRCm39) R40* probably null Het
Mgam T A 6: 40,717,113 (GRCm39) N265K possibly damaging Het
Muc6 G A 7: 141,231,687 (GRCm39) T1069I probably damaging Het
Myh2 T C 11: 67,077,526 (GRCm39) L887P probably damaging Het
Myo1d T G 11: 80,575,203 (GRCm39) D171A probably damaging Het
Nat2 T A 8: 67,954,002 (GRCm39) F37L probably damaging Het
Nkx2-2 A G 2: 147,019,730 (GRCm39) C236R unknown Het
Nrl G A 14: 55,759,582 (GRCm39) S115L probably benign Het
Nrsn1 A C 13: 25,446,254 (GRCm39) S41A probably damaging Het
Or5b12 T A 19: 12,897,346 (GRCm39) E109V probably damaging Het
Pax8 T A 2: 24,311,567 (GRCm39) H456L possibly damaging Het
Pkd1 T A 17: 24,790,254 (GRCm39) I979K probably damaging Het
Prex2 A G 1: 11,150,274 (GRCm39) N149D probably damaging Het
Psg28 A T 7: 18,160,149 (GRCm39) V349D probably damaging Het
Ptpro G A 6: 137,369,805 (GRCm39) probably null Het
Sema4d T A 13: 51,876,387 (GRCm39) K94N probably benign Het
Slc22a22 A T 15: 57,114,348 (GRCm39) D326E probably benign Het
Slc25a29 G A 12: 108,792,756 (GRCm39) T274I probably benign Het
Slc43a1 T C 2: 84,687,220 (GRCm39) F374L possibly damaging Het
Syne1 G T 10: 5,107,683 (GRCm39) Q520K possibly damaging Het
Taar4 T C 10: 23,837,032 (GRCm39) V214A probably benign Het
Tex22 T A 12: 113,052,103 (GRCm39) C54S possibly damaging Het
Tpo T A 12: 30,150,573 (GRCm39) I436F probably damaging Het
Usp53 T C 3: 122,743,415 (GRCm39) H507R possibly damaging Het
Vmn2r109 G T 17: 20,761,436 (GRCm39) F640L probably damaging Het
Vmn2r124 A G 17: 18,282,212 (GRCm39) Y80C probably damaging Het
Vmn2r27 A T 6: 124,201,201 (GRCm39) I252K probably benign Het
Zfp457 A G 13: 67,454,445 (GRCm39) probably benign Het
Other mutations in Usp54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Usp54 APN 14 20,623,905 (GRCm39) missense probably damaging 1.00
IGL01090:Usp54 APN 14 20,636,225 (GRCm39) unclassified probably benign
IGL02030:Usp54 APN 14 20,616,014 (GRCm39) missense probably benign 0.44
IGL02333:Usp54 APN 14 20,639,463 (GRCm39) missense probably damaging 1.00
IGL02642:Usp54 APN 14 20,615,140 (GRCm39) splice site probably benign
IGL02970:Usp54 APN 14 20,627,540 (GRCm39) missense probably damaging 1.00
IGL03371:Usp54 APN 14 20,639,436 (GRCm39) unclassified probably benign
BB003:Usp54 UTSW 14 20,627,036 (GRCm39) missense probably damaging 1.00
BB013:Usp54 UTSW 14 20,627,036 (GRCm39) missense probably damaging 1.00
R0050:Usp54 UTSW 14 20,623,823 (GRCm39) unclassified probably benign
R0383:Usp54 UTSW 14 20,611,320 (GRCm39) missense probably benign 0.00
R0427:Usp54 UTSW 14 20,620,432 (GRCm39) missense probably benign
R0442:Usp54 UTSW 14 20,657,277 (GRCm39) missense probably damaging 1.00
R0574:Usp54 UTSW 14 20,606,322 (GRCm39) missense probably benign 0.00
R0638:Usp54 UTSW 14 20,639,437 (GRCm39) unclassified probably benign
R0789:Usp54 UTSW 14 20,612,225 (GRCm39) missense probably benign 0.01
R1272:Usp54 UTSW 14 20,611,178 (GRCm39) missense probably damaging 0.99
R1463:Usp54 UTSW 14 20,600,258 (GRCm39) missense probably benign 0.15
R1565:Usp54 UTSW 14 20,657,227 (GRCm39) missense probably damaging 1.00
R1721:Usp54 UTSW 14 20,633,508 (GRCm39) nonsense probably null
R1922:Usp54 UTSW 14 20,610,972 (GRCm39) missense probably benign 0.00
R2068:Usp54 UTSW 14 20,627,273 (GRCm39) missense probably damaging 1.00
R2216:Usp54 UTSW 14 20,611,908 (GRCm39) missense probably benign
R2285:Usp54 UTSW 14 20,611,246 (GRCm39) missense possibly damaging 0.52
R2426:Usp54 UTSW 14 20,615,008 (GRCm39) missense probably benign 0.00
R3855:Usp54 UTSW 14 20,638,488 (GRCm39) missense probably damaging 1.00
R3856:Usp54 UTSW 14 20,638,488 (GRCm39) missense probably damaging 1.00
R3907:Usp54 UTSW 14 20,636,181 (GRCm39) missense probably damaging 1.00
R4367:Usp54 UTSW 14 20,611,202 (GRCm39) missense probably benign 0.02
R4384:Usp54 UTSW 14 20,600,153 (GRCm39) splice site probably null
R4555:Usp54 UTSW 14 20,611,090 (GRCm39) missense probably benign 0.06
R4617:Usp54 UTSW 14 20,600,406 (GRCm39) missense probably benign 0.04
R4659:Usp54 UTSW 14 20,615,060 (GRCm39) missense probably damaging 1.00
R4672:Usp54 UTSW 14 20,631,597 (GRCm39) intron probably benign
R4928:Usp54 UTSW 14 20,612,260 (GRCm39) missense probably damaging 1.00
R5381:Usp54 UTSW 14 20,636,144 (GRCm39) missense probably damaging 1.00
R5408:Usp54 UTSW 14 20,600,501 (GRCm39) missense probably damaging 1.00
R5630:Usp54 UTSW 14 20,615,125 (GRCm39) missense probably damaging 1.00
R5841:Usp54 UTSW 14 20,600,351 (GRCm39) missense probably benign 0.04
R5886:Usp54 UTSW 14 20,611,910 (GRCm39) missense probably benign 0.28
R5922:Usp54 UTSW 14 20,602,139 (GRCm39) splice site probably null
R5975:Usp54 UTSW 14 20,633,419 (GRCm39) missense possibly damaging 0.77
R6074:Usp54 UTSW 14 20,602,167 (GRCm39) missense probably benign 0.02
R6183:Usp54 UTSW 14 20,602,313 (GRCm39) missense probably damaging 0.99
R6234:Usp54 UTSW 14 20,633,518 (GRCm39) missense probably damaging 1.00
R6303:Usp54 UTSW 14 20,611,036 (GRCm39) missense possibly damaging 0.95
R6304:Usp54 UTSW 14 20,611,036 (GRCm39) missense possibly damaging 0.95
R6695:Usp54 UTSW 14 20,610,937 (GRCm39) missense possibly damaging 0.94
R6774:Usp54 UTSW 14 20,627,296 (GRCm39) missense probably damaging 1.00
R6941:Usp54 UTSW 14 20,612,177 (GRCm39) missense probably benign
R7133:Usp54 UTSW 14 20,611,310 (GRCm39) missense probably benign 0.00
R7196:Usp54 UTSW 14 20,638,438 (GRCm39) missense probably damaging 1.00
R7409:Usp54 UTSW 14 20,602,313 (GRCm39) missense probably damaging 0.99
R7424:Usp54 UTSW 14 20,627,108 (GRCm39) missense probably benign 0.15
R7926:Usp54 UTSW 14 20,627,036 (GRCm39) missense probably damaging 1.00
R7954:Usp54 UTSW 14 20,611,981 (GRCm39) missense probably benign 0.01
R8489:Usp54 UTSW 14 20,611,604 (GRCm39) missense probably benign 0.31
R8745:Usp54 UTSW 14 20,612,176 (GRCm39) missense probably benign 0.00
R8775:Usp54 UTSW 14 20,638,466 (GRCm39) missense probably benign 0.03
R8775-TAIL:Usp54 UTSW 14 20,638,466 (GRCm39) missense probably benign 0.03
R9080:Usp54 UTSW 14 20,612,308 (GRCm39) missense probably damaging 1.00
R9121:Usp54 UTSW 14 20,631,523 (GRCm39) critical splice donor site probably null
R9139:Usp54 UTSW 14 20,627,162 (GRCm39) missense probably benign 0.00
R9433:Usp54 UTSW 14 20,611,678 (GRCm39) missense probably benign
R9613:Usp54 UTSW 14 20,600,438 (GRCm39) missense probably damaging 0.97
RF004:Usp54 UTSW 14 20,611,368 (GRCm39) missense possibly damaging 0.90
X0024:Usp54 UTSW 14 20,627,319 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- GGCTCATGAACTTGCACAC -3'
(R):5'- CTTCAGAATGCCAGCACCATG -3'

Sequencing Primer
(F):5'- GCTCATGAACTTGCACACAGAAAC -3'
(R):5'- AACTGTCCGGTGAGTTAATGC -3'
Posted On 2019-12-20