Incidental Mutation 'R6774:Usp54'
ID 532306
Institutional Source Beutler Lab
Gene Symbol Usp54
Ensembl Gene ENSMUSG00000034235
Gene Name ubiquitin specific peptidase 54
Synonyms 4930429G18Rik, C030002J06Rik
MMRRC Submission 044890-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6774 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 20598980-20691131 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20627296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 454 (V454A)
Ref Sequence ENSEMBL: ENSMUSP00000036214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022356] [ENSMUST00000035340]
AlphaFold Q8BL06
Predicted Effect probably damaging
Transcript: ENSMUST00000022356
AA Change: V454A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: V454A

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 damaging
Transcript: ENSMUST00000035340
AA Change: V454A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: V454A

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 unknown
Transcript: ENSMUST00000123287
AA Change: V206A
SMART Domains Protein: ENSMUSP00000117503
Gene: ENSMUSG00000034235
AA Change: V206A

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,163,908 (GRCm39) I822N probably damaging Het
9930111J21Rik1 A G 11: 48,838,143 (GRCm39) S815P possibly damaging Het
A430033K04Rik A G 5: 138,644,712 (GRCm39) Y199C probably benign Het
Adam34l T A 8: 44,078,220 (GRCm39) H668L probably benign Het
Afap1l1 A T 18: 61,888,732 (GRCm39) V113E probably benign Het
Ahnak2 C T 12: 112,740,172 (GRCm39) C494Y possibly damaging Het
Atr A T 9: 95,809,266 (GRCm39) E1981D probably benign Het
Bmp7 A G 2: 172,714,751 (GRCm39) Y353H probably damaging Het
Capn11 C T 17: 45,968,256 (GRCm39) probably benign Het
Ccdc103 T C 11: 102,773,519 (GRCm39) F47S probably damaging Het
Cmas A G 6: 142,710,147 (GRCm39) Y130C possibly damaging Het
Cntn5 T C 9: 10,144,222 (GRCm39) Y149C probably damaging Het
Col12a1 A C 9: 79,613,619 (GRCm39) S75R possibly damaging Het
Crat G A 2: 30,303,195 (GRCm39) H31Y probably damaging Het
Dnah7a A G 1: 53,737,810 (GRCm39) V41A probably benign Het
F5 C T 1: 164,014,447 (GRCm39) R573C probably damaging Het
Gcc2 A G 10: 58,117,261 (GRCm39) N1170S possibly damaging Het
Gm29666 A T 15: 84,798,260 (GRCm39) C100* probably null Het
Gm3573 A T 14: 42,009,472 (GRCm39) Y158N possibly damaging Het
Gtf3c1 G T 7: 125,240,793 (GRCm39) A1968E possibly damaging Het
Heg1 C A 16: 33,558,638 (GRCm39) T815K probably damaging Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Kif17 A G 4: 138,002,306 (GRCm39) Y170C probably damaging Het
Kti12 G A 4: 108,705,652 (GRCm39) G189R probably benign Het
Lrp4 G A 2: 91,341,849 (GRCm39) A1821T probably benign Het
Mamdc4 T C 2: 25,456,948 (GRCm39) I610V probably benign Het
Mmp1b T C 9: 7,387,914 (GRCm39) K27E probably benign Het
Mob4 A G 1: 55,187,588 (GRCm39) probably null Het
Myc G A 15: 61,860,128 (GRCm39) probably null Het
Myo5c A T 9: 75,196,468 (GRCm39) I1305F probably benign Het
Nprl3 A G 11: 32,187,381 (GRCm39) V292A probably damaging Het
Ntng2 T C 2: 29,087,102 (GRCm39) T373A probably damaging Het
Or1f19 T A 16: 3,410,380 (GRCm39) V40D probably damaging Het
Or4a67 C T 2: 88,598,228 (GRCm39) V144I probably benign Het
Or5p50 T A 7: 107,422,395 (GRCm39) T94S probably benign Het
Or7e171-ps1 A T 9: 19,853,070 (GRCm39) L222H unknown Het
Pard3 T C 8: 128,137,228 (GRCm39) L859P probably damaging Het
Ppcs T C 4: 119,276,285 (GRCm39) D100G probably damaging Het
Prkdc G T 16: 15,543,325 (GRCm39) probably null Het
Pwwp2b T C 7: 138,835,903 (GRCm39) V448A probably benign Het
Rapgef4 A G 2: 72,056,119 (GRCm39) K624R probably benign Het
Spata31e5 A T 1: 28,815,974 (GRCm39) I686N probably benign Het
Synj2 C T 17: 6,088,290 (GRCm39) S1447L possibly damaging Het
Tfap2a T A 13: 40,882,230 (GRCm39) N25I probably damaging Het
Tnxb C A 17: 34,928,606 (GRCm39) Y2673* probably null Het
Trim27 T A 13: 21,376,624 (GRCm39) H457Q probably damaging Het
Trim72 T G 7: 127,609,558 (GRCm39) F453L probably damaging Het
Ubr5 A T 15: 38,015,379 (GRCm39) M877K probably damaging Het
Usp10 T C 8: 120,678,711 (GRCm39) L564P probably benign Het
Uspl1 T A 5: 149,150,904 (GRCm39) D701E probably benign Het
Vmn2r103 A G 17: 19,993,773 (GRCm39) H50R probably benign Het
Zfp35 G A 18: 24,136,015 (GRCm39) V120I possibly damaging Het
Zfp712 T C 13: 67,189,568 (GRCm39) T320A 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
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
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'- AAGAACTGGATTTTGCCTCACTAC -3'
(R):5'- CAGCGAAGGCAAGCCATTTG -3'

Sequencing Primer
(F):5'- GGATTTTGCCTCACTACTGGTAC -3'
(R):5'- CAACTTGTGGTTTTCTTGCCAAG -3'
Posted On 2018-08-29