Incidental Mutation 'R0034:Usp50'
ID18613
Institutional Source Beutler Lab
Gene Symbol Usp50
Ensembl Gene ENSMUSG00000027364
Gene Nameubiquitin specific peptidase 50
Synonyms
MMRRC Submission 038328-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0034 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location126709096-126783470 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 126777975 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 139 (E139G)
Ref Sequence ENSEMBL: ENSMUSP00000121578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028842] [ENSMUST00000130356] [ENSMUST00000136319]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028842
AA Change: E194G

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028842
Gene: ENSMUSG00000027364
AA Change: E194G

DomainStartEndE-ValueType
Pfam:UCH 44 360 9.2e-67 PFAM
Pfam:UCH_1 45 342 2.8e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130356
AA Change: E133G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116873
Gene: ENSMUSG00000027364
AA Change: E133G

DomainStartEndE-ValueType
Pfam:UCH 8 183 1.5e-20 PFAM
Pfam:UCH_1 22 194 3.1e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136319
AA Change: E139G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121578
Gene: ENSMUSG00000027364
AA Change: E139G

DomainStartEndE-ValueType
Pfam:UCH 1 268 1.9e-39 PFAM
Pfam:UCH_1 1 269 1.3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151140
Meta Mutation Damage Score 0.0683 question?
Coding Region Coverage
  • 1x: 76.6%
  • 3x: 64.3%
  • 10x: 35.1%
  • 20x: 16.8%
Validation Efficiency 87% (59/68)
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,736,572 H664R probably damaging Het
Asns G A 6: 7,676,299 P419L probably damaging Het
Cep152 C T 2: 125,583,893 A851T probably benign Het
Chrna7 T G 7: 63,148,606 K109N possibly damaging Het
Farp1 A G 14: 121,255,429 H481R probably benign Het
Kif9 G A 9: 110,519,611 C738Y probably benign Het
Klf12 A G 14: 99,987,429 probably null Het
Ltbp1 T A 17: 75,047,568 probably benign Het
Map2k4 A G 11: 65,719,611 probably benign Het
Nat8f5 C A 6: 85,817,886 A31S probably benign Het
Plb1 G T 5: 32,273,113 G138V probably benign Het
Plcz1 A T 6: 140,020,448 probably benign Het
Poln A C 5: 34,115,418 V398G possibly damaging Het
Ppp2r2c A G 5: 36,927,539 I115V probably benign Het
Rapgef1 C A 2: 29,724,768 probably benign Het
Rbm43 A T 2: 51,925,710 D166E probably benign Het
Sgk3 T C 1: 9,885,677 V301A probably damaging Het
Trap1 A T 16: 4,069,030 probably benign Het
Trim14 A G 4: 46,523,627 L137P probably damaging Het
Tsku T C 7: 98,352,663 T154A possibly damaging Het
Zfp949 A T 9: 88,567,640 probably benign Het
Zscan20 T C 4: 128,585,662 N1012S probably damaging Het
Other mutations in Usp50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Usp50 APN 2 126709414 missense probably damaging 0.98
IGL01565:Usp50 APN 2 126777968 nonsense probably null
IGL01976:Usp50 APN 2 126709466 missense probably benign 0.10
IGL02192:Usp50 APN 2 126778038 missense possibly damaging 0.94
IGL02272:Usp50 APN 2 126769944 missense probably damaging 0.98
IGL02892:Usp50 APN 2 126769902 missense probably damaging 1.00
PIT4453001:Usp50 UTSW 2 126783316 start gained probably benign
R0382:Usp50 UTSW 2 126777928 missense probably damaging 1.00
R0433:Usp50 UTSW 2 126761544 missense probably damaging 0.98
R1146:Usp50 UTSW 2 126709472 missense probably benign 0.02
R1457:Usp50 UTSW 2 126761634 missense probably benign 0.41
R1475:Usp50 UTSW 2 126769867 splice site probably null
R1758:Usp50 UTSW 2 126775862 missense probably damaging 1.00
R1889:Usp50 UTSW 2 126777898 critical splice donor site probably null
R1940:Usp50 UTSW 2 126778023 missense probably benign 0.03
R1959:Usp50 UTSW 2 126777961 missense possibly damaging 0.91
R2698:Usp50 UTSW 2 126778029 missense probably damaging 0.97
R4648:Usp50 UTSW 2 126778033 missense probably damaging 0.98
R4809:Usp50 UTSW 2 126777853 intron probably benign
R6247:Usp50 UTSW 2 126775793 missense probably benign 0.33
R7030:Usp50 UTSW 2 126780475 missense possibly damaging 0.78
R7186:Usp50 UTSW 2 126783298 start gained probably benign
R7522:Usp50 UTSW 2 126783226 missense probably damaging 1.00
R8110:Usp50 UTSW 2 126780330 splice site probably null
X0064:Usp50 UTSW 2 126761646 nonsense probably null
Posted On2013-03-25