Incidental Mutation 'R8775-TAIL:Usp54'
ID 668042
Institutional Source Beutler Lab
Gene Symbol Usp54
Ensembl Gene ENSMUSG00000034235
Gene Name ubiquitin specific peptidase 54
Synonyms 4930429G18Rik, C030002J06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8775-TAIL
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 20598980-20691131 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20638466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 205 (S205T)
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: S205T

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: S205T

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: S205T

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: S205T

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: 99.8%
  • 20x: 99.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T C 6: 39,552,142 (GRCm39) probably null Het
Alpk3 A C 7: 80,727,598 (GRCm39) M243L probably benign Het
Anapc1 A T 2: 128,499,093 (GRCm39) Y860N possibly damaging Het
Asprv1 T C 6: 86,605,321 (GRCm39) S56P probably damaging Het
Blm TCC TCCACC 7: 80,162,679 (GRCm39) probably benign Het
D130043K22Rik G T 13: 25,040,982 (GRCm39) E135* probably null Het
Dnmt3b A G 2: 153,511,711 (GRCm39) H293R possibly damaging Het
Dsg1a C T 18: 20,473,564 (GRCm39) S879L probably damaging Het
Fbxo24 C T 5: 137,611,213 (GRCm39) A526T possibly damaging Het
Fign A T 2: 63,810,891 (GRCm39) D126E probably benign Het
Gpr137 A G 19: 6,915,800 (GRCm39) F377L probably damaging Het
Gsdma2 A G 11: 98,540,009 (GRCm39) K44E probably damaging Het
Iigp1 A C 18: 60,523,596 (GRCm39) Y238S probably damaging Het
Itga8 C G 2: 12,187,495 (GRCm39) G728A probably damaging Het
Kcnip2 T C 19: 45,782,149 (GRCm39) N258S possibly damaging Het
Lcat A G 8: 106,669,023 (GRCm39) I84T possibly damaging Het
Mansc1 C T 6: 134,587,631 (GRCm39) R182H probably benign Het
Myh4 T C 11: 67,148,006 (GRCm39) M1685T probably benign Het
Myo10 T A 15: 25,800,145 (GRCm39) V1407E probably damaging Het
Ncam2 T A 16: 81,314,429 (GRCm39) N468K probably benign Het
Nckap1 A G 2: 80,375,410 (GRCm39) S297P probably benign Het
Nefm T C 14: 68,362,108 (GRCm39) Y52C probably damaging Het
Ntng2 A T 2: 29,117,976 (GRCm39) N157K possibly damaging Het
Oscp1 T C 4: 125,970,619 (GRCm39) V136A probably benign Het
Oser1 G A 2: 163,249,004 (GRCm39) T66I probably benign Het
Palld A G 8: 62,138,006 (GRCm39) L583P possibly damaging Het
Pex7 A G 10: 19,760,522 (GRCm39) probably null Het
Ppp2r3d A G 9: 101,004,204 (GRCm39) Y378H probably benign Het
Prss33 T A 17: 24,052,885 (GRCm39) N263I possibly damaging Het
Psg25 A C 7: 18,255,153 (GRCm39) C454W probably damaging Het
Ptpn21 T C 12: 98,649,001 (GRCm39) probably null Het
Sh3bp2 A T 5: 34,719,751 (GRCm39) S587C probably damaging Het
Sos2 A G 12: 69,664,006 (GRCm39) F493L probably benign Het
St8sia4 T A 1: 95,519,472 (GRCm39) T339S possibly damaging Het
Taok1 T C 11: 77,470,632 (GRCm39) K58E probably benign Het
Thsd1 A G 8: 22,749,643 (GRCm39) D838G possibly damaging Het
Tulp2 A G 7: 45,164,914 (GRCm39) T65A probably benign Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Vmn2r37 A T 7: 9,218,991 (GRCm39) Y464* probably null Het
Wdsub1 A G 2: 59,693,014 (GRCm39) M300T probably damaging Het
Xrcc5 C T 1: 72,433,089 (GRCm39) T716I probably benign Het
Zfp619 G T 7: 39,184,639 (GRCm39) C223F possibly damaging 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
R7859:Usp54 UTSW 14 20,638,204 (GRCm39) missense probably benign 0.24
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
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
Posted On 2021-03-08