Incidental Mutation 'R6183:Usp54'
ID 487636
Institutional Source Beutler Lab
Gene Symbol Usp54
Ensembl Gene ENSMUSG00000034235
Gene Name ubiquitin specific peptidase 54
Synonyms C030002J06Rik, 4930429G18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6183 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 20548912-20641063 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20552245 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1346 (R1346G)
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: R1346G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: R1346G

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: R1346G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: R1346G

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 noncoding transcript
Transcript: ENSMUST00000128848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142099
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548H24Rik T C 5: 31,487,976 Y358H probably damaging Het
5830411N06Rik A G 7: 140,296,034 T404A possibly damaging Het
Abcb4 T A 5: 8,918,718 D352E probably benign Het
Adgrb3 T A 1: 25,094,370 I972L probably damaging Het
Alg3 T C 16: 20,610,641 Y33C probably benign Het
Atp1a3 C T 7: 24,981,752 G816D probably damaging Het
Ces1g C T 8: 93,331,239 V145M possibly damaging Het
Clip1 A G 5: 123,642,604 S339P probably damaging Het
Col2a1 G T 15: 97,988,790 T378N unknown Het
Dennd4b ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG 3: 90,275,568 probably benign Het
Dnah12 T A 14: 26,861,769 L3207Q probably damaging Het
Efcab5 T C 11: 77,137,258 T416A probably benign Het
Ephb1 A T 9: 102,195,325 I85N probably damaging Het
Etnppl T C 3: 130,620,317 C22R probably damaging Het
F830016B08Rik A G 18: 60,299,877 T11A probably benign Het
Gm5458 C A 14: 19,599,644 V171L probably damaging Het
Helb G T 10: 120,112,998 probably null Het
Hnrnpll A G 17: 80,049,876 V237A possibly damaging Het
Hps3 T C 3: 20,008,868 T712A probably benign Het
Ibsp A G 5: 104,306,030 E78G possibly damaging Het
Ighv1-62-2 G A 12: 115,446,436 A111V probably damaging Het
Igkv4-63 G T 6: 69,378,124 Q58K probably damaging Het
Iqcg T C 16: 33,030,923 Y226C probably damaging Het
Khdc1a A T 1: 21,350,108 D30V possibly damaging Het
Krtap5-5 C A 7: 142,229,787 C42F unknown Het
Lmod3 T C 6: 97,252,553 N7D probably damaging Het
Lvrn A G 18: 46,850,685 N165S probably benign Het
Ms4a4c A G 19: 11,426,229 T192A possibly damaging Het
Ncald A T 15: 37,397,232 V68D probably damaging Het
Olfr1507 T A 14: 52,490,731 T78S probably benign Het
Pcdhgb7 A T 18: 37,752,262 I162F probably damaging Het
Prokr1 T C 6: 87,588,852 T4A possibly damaging Het
Qrich2 T A 11: 116,458,129 probably benign Het
Rgl1 C T 1: 152,586,570 E60K possibly damaging Het
Rtn1 A T 12: 72,408,491 W21R probably benign Het
Spast A G 17: 74,373,358 I438M probably damaging Het
Sptbn5 C T 2: 120,059,417 probably benign Het
Sry C G Y: 2,662,975 Q228H unknown Het
Tas1r1 A G 4: 152,032,541 I212T probably damaging Het
Tbc1d1 A G 5: 64,275,425 N439D probably damaging Het
Tjp2 C T 19: 24,100,791 A913T probably damaging Het
Tnfrsf26 A G 7: 143,611,757 L47P probably damaging Het
Unc13a A T 8: 71,644,666 S1195T probably damaging Het
Vmn1r54 T A 6: 90,269,290 M62K possibly damaging Het
Vmn2r125 A T 4: 156,350,069 D50V probably damaging Het
Vmn2r66 T C 7: 84,995,558 D548G possibly damaging Het
Vmn2r95 T A 17: 18,443,930 N470K probably damaging Het
Zc3h7a A T 16: 11,147,370 I633N possibly damaging Het
Other mutations in Usp54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Usp54 APN 14 20,573,837 (GRCm38) missense probably damaging 1.00
IGL01090:Usp54 APN 14 20,586,157 (GRCm38) unclassified probably benign
IGL02030:Usp54 APN 14 20,565,946 (GRCm38) missense probably benign 0.44
IGL02333:Usp54 APN 14 20,589,395 (GRCm38) missense probably damaging 1.00
IGL02642:Usp54 APN 14 20,565,072 (GRCm38) splice site probably benign
IGL02970:Usp54 APN 14 20,577,472 (GRCm38) missense probably damaging 1.00
IGL03371:Usp54 APN 14 20,589,368 (GRCm38) unclassified probably benign
BB003:Usp54 UTSW 14 20,576,968 (GRCm38) missense probably damaging 1.00
BB013:Usp54 UTSW 14 20,576,968 (GRCm38) missense probably damaging 1.00
R0050:Usp54 UTSW 14 20,573,755 (GRCm38) unclassified probably benign
R0383:Usp54 UTSW 14 20,561,252 (GRCm38) missense probably benign 0.00
R0427:Usp54 UTSW 14 20,570,364 (GRCm38) missense probably benign
R0442:Usp54 UTSW 14 20,607,209 (GRCm38) missense probably damaging 1.00
R0574:Usp54 UTSW 14 20,556,254 (GRCm38) missense probably benign 0.00
R0638:Usp54 UTSW 14 20,589,369 (GRCm38) unclassified probably benign
R0789:Usp54 UTSW 14 20,562,157 (GRCm38) missense probably benign 0.01
R1272:Usp54 UTSW 14 20,561,110 (GRCm38) missense probably damaging 0.99
R1463:Usp54 UTSW 14 20,550,190 (GRCm38) missense probably benign 0.15
R1565:Usp54 UTSW 14 20,607,159 (GRCm38) missense probably damaging 1.00
R1721:Usp54 UTSW 14 20,583,440 (GRCm38) nonsense probably null
R1922:Usp54 UTSW 14 20,560,904 (GRCm38) missense probably benign 0.00
R2068:Usp54 UTSW 14 20,577,205 (GRCm38) missense probably damaging 1.00
R2216:Usp54 UTSW 14 20,561,840 (GRCm38) missense probably benign
R2285:Usp54 UTSW 14 20,561,178 (GRCm38) missense possibly damaging 0.52
R2426:Usp54 UTSW 14 20,564,940 (GRCm38) missense probably benign 0.00
R3855:Usp54 UTSW 14 20,588,420 (GRCm38) missense probably damaging 1.00
R3856:Usp54 UTSW 14 20,588,420 (GRCm38) missense probably damaging 1.00
R3907:Usp54 UTSW 14 20,586,113 (GRCm38) missense probably damaging 1.00
R4367:Usp54 UTSW 14 20,561,134 (GRCm38) missense probably benign 0.02
R4384:Usp54 UTSW 14 20,550,085 (GRCm38) splice site probably null
R4555:Usp54 UTSW 14 20,561,022 (GRCm38) missense probably benign 0.06
R4617:Usp54 UTSW 14 20,550,338 (GRCm38) missense probably benign 0.04
R4659:Usp54 UTSW 14 20,564,992 (GRCm38) missense probably damaging 1.00
R4672:Usp54 UTSW 14 20,581,529 (GRCm38) intron probably benign
R4928:Usp54 UTSW 14 20,562,192 (GRCm38) missense probably damaging 1.00
R5381:Usp54 UTSW 14 20,586,076 (GRCm38) missense probably damaging 1.00
R5408:Usp54 UTSW 14 20,550,433 (GRCm38) missense probably damaging 1.00
R5630:Usp54 UTSW 14 20,565,057 (GRCm38) missense probably damaging 1.00
R5841:Usp54 UTSW 14 20,550,283 (GRCm38) missense probably benign 0.04
R5886:Usp54 UTSW 14 20,561,842 (GRCm38) missense probably benign 0.28
R5922:Usp54 UTSW 14 20,552,071 (GRCm38) splice site probably null
R5975:Usp54 UTSW 14 20,583,351 (GRCm38) missense possibly damaging 0.77
R6074:Usp54 UTSW 14 20,552,099 (GRCm38) missense probably benign 0.02
R6234:Usp54 UTSW 14 20,583,450 (GRCm38) missense probably damaging 1.00
R6303:Usp54 UTSW 14 20,560,968 (GRCm38) missense possibly damaging 0.95
R6304:Usp54 UTSW 14 20,560,968 (GRCm38) missense possibly damaging 0.95
R6695:Usp54 UTSW 14 20,560,869 (GRCm38) missense possibly damaging 0.94
R6774:Usp54 UTSW 14 20,577,228 (GRCm38) missense probably damaging 1.00
R6941:Usp54 UTSW 14 20,562,109 (GRCm38) missense probably benign
R7133:Usp54 UTSW 14 20,561,242 (GRCm38) missense probably benign 0.00
R7196:Usp54 UTSW 14 20,588,370 (GRCm38) missense probably damaging 1.00
R7409:Usp54 UTSW 14 20,552,245 (GRCm38) missense probably damaging 0.99
R7424:Usp54 UTSW 14 20,577,040 (GRCm38) missense probably benign 0.15
R7859:Usp54 UTSW 14 20,588,136 (GRCm38) missense probably benign 0.24
R7926:Usp54 UTSW 14 20,576,968 (GRCm38) missense probably damaging 1.00
R7954:Usp54 UTSW 14 20,561,913 (GRCm38) missense probably benign 0.01
R8489:Usp54 UTSW 14 20,561,536 (GRCm38) missense probably benign 0.31
R8745:Usp54 UTSW 14 20,562,108 (GRCm38) missense probably benign 0.00
R8775:Usp54 UTSW 14 20,588,398 (GRCm38) missense probably benign 0.03
R8775-TAIL:Usp54 UTSW 14 20,588,398 (GRCm38) missense probably benign 0.03
R9080:Usp54 UTSW 14 20,562,240 (GRCm38) missense probably damaging 1.00
R9121:Usp54 UTSW 14 20,581,455 (GRCm38) critical splice donor site probably null
R9139:Usp54 UTSW 14 20,577,094 (GRCm38) missense probably benign 0.00
R9433:Usp54 UTSW 14 20,561,610 (GRCm38) missense probably benign
R9613:Usp54 UTSW 14 20,550,370 (GRCm38) missense probably damaging 0.97
RF004:Usp54 UTSW 14 20,561,300 (GRCm38) missense possibly damaging 0.90
X0024:Usp54 UTSW 14 20,577,251 (GRCm38) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CAGGAGGTATACTGATTTGACCC -3'
(R):5'- AGGCATTTCCTAGGAAGGCC -3'

Sequencing Primer
(F):5'- CTGATTTGACCCTGAAAAAGAATGAC -3'
(R):5'- CATCCTGCCATGTTAACC -3'
Posted On 2017-10-10