Incidental Mutation 'R5381:Usp54'
ID 424746
Institutional Source Beutler Lab
Gene Symbol Usp54
Ensembl Gene ENSMUSG00000034235
Gene Name ubiquitin specific peptidase 54
Synonyms 4930429G18Rik, C030002J06Rik
MMRRC Submission 042956-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5381 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 20598980-20691131 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20636144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 300 (G300D)
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: G300D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: G300D

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: G300D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: G300D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143267
Meta Mutation Damage Score 0.8887 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik G T 11: 65,044,137 (GRCm39) S19* probably null Het
4930432E11Rik A T 7: 29,262,393 (GRCm39) noncoding transcript Het
Acvr1c T C 2: 58,177,747 (GRCm39) T241A probably damaging Het
Ankmy1 T C 1: 92,804,284 (GRCm39) T900A probably benign Het
Anp32a A C 9: 62,279,459 (GRCm39) E107A probably damaging Het
Arhgef40 T C 14: 52,229,306 (GRCm39) I623T probably damaging Het
Camsap3 T A 8: 3,653,812 (GRCm39) I483N probably damaging Het
Card9 G A 2: 26,248,895 (GRCm39) L85F probably damaging Het
Cbfa2t2 T G 2: 154,365,849 (GRCm39) V353G probably damaging Het
Ccdc166 A T 15: 75,852,701 (GRCm39) L422* probably null Het
Ccdc198 T C 14: 49,470,364 (GRCm39) D185G probably damaging Het
Ccdc73 A T 2: 104,820,270 (GRCm39) N416Y probably damaging Het
Celsr2 A T 3: 108,310,073 (GRCm39) D1552E probably damaging Het
Ces1b A T 8: 93,791,647 (GRCm39) N317K probably benign Het
Col6a3 T C 1: 90,703,334 (GRCm39) R2471G unknown Het
Crocc C T 4: 140,756,622 (GRCm39) R1165H possibly damaging Het
Csmd3 T A 15: 47,604,611 (GRCm39) Y1955F probably benign Het
Ctbp1 A T 5: 33,407,034 (GRCm39) D232E probably benign Het
Cuedc1 T A 11: 88,078,812 (GRCm39) probably null Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dusp6 G A 10: 99,102,129 (GRCm39) V226I possibly damaging Het
Gpr152 A G 19: 4,192,516 (GRCm39) E19G probably damaging Het
Ighv16-1 T C 12: 114,032,593 (GRCm39) T70A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Il12b C A 11: 44,298,699 (GRCm39) D51E possibly damaging Het
Il9r T G 11: 32,140,715 (GRCm39) D435A probably benign Het
Jakmip2 T C 18: 43,715,025 (GRCm39) D167G probably damaging Het
Klrd1 A G 6: 129,572,397 (GRCm39) D63G possibly damaging Het
Lactb A G 9: 66,863,297 (GRCm39) L439P probably damaging Het
Laptm5 T C 4: 130,660,969 (GRCm39) probably benign Het
Lgals1 A G 15: 78,814,223 (GRCm39) D96G probably benign Het
Lrp8 A T 4: 107,726,307 (GRCm39) H871L probably damaging Het
Mfap4 A T 11: 61,378,756 (GRCm39) I235F probably benign Het
Muc6 G A 7: 141,217,836 (GRCm39) T2279I possibly damaging Het
Nlrp4b T A 7: 10,449,172 (GRCm39) Y91* probably null Het
Osbp2 A G 11: 3,655,593 (GRCm39) Y383H probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Palb2 G T 7: 121,727,636 (GRCm39) T78K probably benign Het
Panx2 G T 15: 88,944,433 (GRCm39) V53L probably damaging Het
Pip4p1 T C 14: 51,166,495 (GRCm39) E161G probably benign Het
Pitx1 T C 13: 55,973,892 (GRCm39) Y313C probably damaging Het
Pjvk A G 2: 76,481,904 (GRCm39) probably null Het
Pnldc1 T G 17: 13,109,283 (GRCm39) K439T probably benign Het
Ppp4r4 A C 12: 103,559,357 (GRCm39) T513P probably benign Het
Pram1 A T 17: 33,860,600 (GRCm39) Q389L probably damaging Het
Prg4 T C 1: 150,330,204 (GRCm39) probably benign Het
Prkch C A 12: 73,738,366 (GRCm39) R158S probably damaging Het
Ptpn7 A T 1: 135,070,906 (GRCm39) M332L probably damaging Het
Rad51c A T 11: 87,288,459 (GRCm39) D241E probably benign Het
Rara T G 11: 98,862,410 (GRCm39) I270M possibly damaging Het
Ryr2 T A 13: 11,571,544 (GRCm39) D4898V probably damaging Het
Sec31b C T 19: 44,522,810 (GRCm39) G218S probably damaging Het
Slc9a1 T A 4: 133,149,382 (GRCm39) L736Q probably damaging Het
Slco2a1 A T 9: 102,945,213 (GRCm39) D196V probably damaging Het
Sp3 C A 2: 72,800,910 (GRCm39) A368S probably benign Het
Stk24 A T 14: 121,531,645 (GRCm39) L337Q possibly damaging Het
Tbc1d13 A G 2: 30,027,379 (GRCm39) T96A probably benign Het
Tm2d3 G A 7: 65,351,420 (GRCm39) G225S probably damaging Het
Urb2 T C 8: 124,756,651 (GRCm39) V786A probably benign Het
Usp32 C T 11: 84,949,953 (GRCm39) probably benign Het
Vmn1r124 T A 7: 20,994,323 (GRCm39) N74Y probably damaging Het
Vmn1r77 T A 7: 11,775,952 (GRCm39) C175S probably damaging Het
Vmn2r62 G T 7: 42,437,219 (GRCm39) Q422K probably benign Het
Vmn2r76 A G 7: 85,874,496 (GRCm39) F827S probably damaging Het
Vps52 A G 17: 34,177,275 (GRCm39) S106G possibly damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zic2 A G 14: 122,713,227 (GRCm39) N47S probably 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
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
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'- TGTATGCCTTACCAACACTGTAAC -3'
(R):5'- CCATAGCCTTTCAGTGTTGGG -3'

Sequencing Primer
(F):5'- TTACCAACACTGTAACAACCATTC -3'
(R):5'- GTAGTCTCAGCACTCAGAAGTCTG -3'
Posted On 2016-08-04