Incidental Mutation 'IGL02272:Usp50'
ID287193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp50
Ensembl Gene ENSMUSG00000027364
Gene Nameubiquitin specific peptidase 50
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02272
Quality Score
Status
Chromosome2
Chromosomal Location126709096-126783470 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 126769944 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 232 (T232I)
Ref Sequence ENSEMBL: ENSMUSP00000121578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028842] [ENSMUST00000130356] [ENSMUST00000136319]
Predicted Effect probably damaging
Transcript: ENSMUST00000028842
AA Change: T287I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028842
Gene: ENSMUSG00000027364
AA Change: T287I

DomainStartEndE-ValueType
Pfam:UCH 44 360 9.2e-67 PFAM
Pfam:UCH_1 45 342 2.8e-24 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000130356
AA Change: T226I
SMART Domains Protein: ENSMUSP00000116873
Gene: ENSMUSG00000027364
AA Change: T226I

DomainStartEndE-ValueType
Pfam:UCH 8 183 1.5e-20 PFAM
Pfam:UCH_1 22 194 3.1e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136319
AA Change: T232I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121578
Gene: ENSMUSG00000027364
AA Change: T232I

DomainStartEndE-ValueType
Pfam:UCH 1 268 1.9e-39 PFAM
Pfam:UCH_1 1 269 1.3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145194
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,450,021 C759* probably null Het
Adgrg6 T A 10: 14,468,829 M127L probably damaging Het
AI314180 A T 4: 58,811,731 N1439K probably benign Het
Anxa9 A G 3: 95,305,894 V47A probably benign Het
Arhgef12 T A 9: 43,001,452 D483V probably damaging Het
Arrdc3 C A 13: 80,891,650 probably benign Het
Ccdc169 A G 3: 55,150,748 E67G probably damaging Het
Ccdc191 T A 16: 43,960,022 V731D possibly damaging Het
Cdh3 G T 8: 106,547,836 probably null Het
Cntnap1 G A 11: 101,178,316 V199M probably damaging Het
Cntnap3 A T 13: 64,757,411 V852E probably damaging Het
Csmd1 A T 8: 16,199,893 S1024T probably damaging Het
Cyp3a25 T C 5: 145,993,265 probably benign Het
Dusp6 T A 10: 99,266,019 V289D probably damaging Het
Epha6 C T 16: 59,818,937 R858Q probably damaging Het
Flrt2 T A 12: 95,779,704 F272Y probably damaging Het
Gbf1 T A 19: 46,269,803 W846R probably damaging Het
Gtpbp2 T A 17: 46,164,781 V152E probably benign Het
Hmces A G 6: 87,917,855 probably null Het
Hsph1 A G 5: 149,617,530 S852P probably benign Het
Kat6b A C 14: 21,626,778 K394Q probably damaging Het
Kdr G A 5: 75,961,840 T475I probably benign Het
Klhl25 A G 7: 75,866,620 T425A probably benign Het
Klk1b8 T A 7: 43,952,793 C50S probably damaging Het
Kri1 T C 9: 21,276,168 Y343C probably damaging Het
Lamb1 T C 12: 31,305,769 S953P probably benign Het
Lpin1 A G 12: 16,547,600 V681A probably damaging Het
Lpin3 A G 2: 160,901,661 T508A probably benign Het
Moxd1 T A 10: 24,282,700 Y417* probably null Het
Mthfd1l T G 10: 4,041,812 I588S probably damaging Het
Myo5c C A 9: 75,266,160 N543K possibly damaging Het
Myo9a T A 9: 59,884,600 probably benign Het
Nme8 T C 13: 19,658,826 Y393C probably damaging Het
Nr2e1 T G 10: 42,567,979 N249T probably damaging Het
Pex11g A G 8: 3,465,898 V45A probably benign Het
Pkhd1 C A 1: 20,209,260 G2945W probably damaging Het
Plxnd1 A G 6: 115,993,628 F393S probably damaging Het
Ppp3cc A G 14: 70,236,489 V353A probably damaging Het
Prss16 T A 13: 22,003,035 Q455L probably damaging Het
Ptpn6 A T 6: 124,721,208 V524E probably damaging Het
Rap1gap A G 4: 137,716,566 Y163C probably damaging Het
Rnf31 C T 14: 55,598,782 L598F probably damaging Het
Sardh T G 2: 27,224,991 D550A probably benign Het
Serpinc1 T G 1: 160,999,992 I387S probably damaging Het
Sh3d19 A T 3: 86,121,167 D650V probably benign Het
Sipa1l2 T A 8: 125,492,011 T196S probably damaging Het
Slc25a46 T C 18: 31,583,568 T294A probably benign Het
Srrm2 T C 17: 23,815,782 probably benign Het
Steap2 T A 5: 5,677,612 N241I probably benign Het
Tcaf3 T C 6: 42,596,660 Y206C probably damaging Het
Tmem259 T A 10: 79,978,463 Q322L probably damaging Het
Tnni2 C A 7: 142,443,429 Q52K possibly damaging Het
Ttn A G 2: 76,735,028 V28285A possibly damaging Het
Uba7 T A 9: 107,976,153 S99R probably benign Het
Ubxn2b A T 4: 6,216,071 K331N probably damaging Het
Vmn2r116 G A 17: 23,385,999 M95I probably benign Het
Vmn2r116 T A 17: 23,386,004 L97Q probably damaging Het
Vmn2r24 A T 6: 123,786,884 N240I possibly damaging Het
Vmn2r72 T C 7: 85,750,693 R383G probably benign 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
IGL02892:Usp50 APN 2 126769902 missense probably damaging 1.00
PIT4453001:Usp50 UTSW 2 126783316 start gained probably benign
R0034:Usp50 UTSW 2 126777975 missense possibly damaging 0.89
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
X0064:Usp50 UTSW 2 126761646 nonsense probably null
Posted On2015-04-16