Incidental Mutation 'IGL02272:Usp50'
ID 287193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp50
Ensembl Gene ENSMUSG00000027364
Gene Name ubiquitin specific peptidase 50
Synonyms 1700086G18Rik, 4930511O11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02272
Quality Score
Status
Chromosome 2
Chromosomal Location 126602970-126625380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126611864 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q6P8X6
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: 57,757,021 (GRCm39) C759* probably null Het
Adgrg6 T A 10: 14,344,573 (GRCm39) M127L probably damaging Het
Anxa9 A G 3: 95,213,205 (GRCm39) V47A probably benign Het
Arhgef12 T A 9: 42,912,748 (GRCm39) D483V probably damaging Het
Arrdc3 C A 13: 81,039,769 (GRCm39) probably benign Het
Ccdc169 A G 3: 55,058,169 (GRCm39) E67G probably damaging Het
Ccdc191 T A 16: 43,780,385 (GRCm39) V731D possibly damaging Het
Cdh3 G T 8: 107,274,468 (GRCm39) probably null Het
Cntnap1 G A 11: 101,069,142 (GRCm39) V199M probably damaging Het
Cntnap3 A T 13: 64,905,225 (GRCm39) V852E probably damaging Het
Csmd1 A T 8: 16,249,907 (GRCm39) S1024T probably damaging Het
Cyp3a25 T C 5: 145,930,075 (GRCm39) probably benign Het
Dusp6 T A 10: 99,101,881 (GRCm39) V289D probably damaging Het
Ecpas A T 4: 58,811,731 (GRCm39) N1439K probably benign Het
Epha6 C T 16: 59,639,300 (GRCm39) R858Q probably damaging Het
Flrt2 T A 12: 95,746,478 (GRCm39) F272Y probably damaging Het
Gbf1 T A 19: 46,258,242 (GRCm39) W846R probably damaging Het
Gtpbp2 T A 17: 46,475,707 (GRCm39) V152E probably benign Het
Hmces A G 6: 87,894,837 (GRCm39) probably null Het
Hsph1 A G 5: 149,540,995 (GRCm39) S852P probably benign Het
Kat6b A C 14: 21,676,846 (GRCm39) K394Q probably damaging Het
Kdr G A 5: 76,122,500 (GRCm39) T475I probably benign Het
Klhl25 A G 7: 75,516,368 (GRCm39) T425A probably benign Het
Klk1b8 T A 7: 43,602,217 (GRCm39) C50S probably damaging Het
Kri1 T C 9: 21,187,464 (GRCm39) Y343C probably damaging Het
Lamb1 T C 12: 31,355,768 (GRCm39) S953P probably benign Het
Lpin1 A G 12: 16,597,601 (GRCm39) V681A probably damaging Het
Lpin3 A G 2: 160,743,581 (GRCm39) T508A probably benign Het
Moxd1 T A 10: 24,158,598 (GRCm39) Y417* probably null Het
Mthfd1l T G 10: 3,991,812 (GRCm39) I588S probably damaging Het
Myo5c C A 9: 75,173,442 (GRCm39) N543K possibly damaging Het
Myo9a T A 9: 59,791,883 (GRCm39) probably benign Het
Nme8 T C 13: 19,842,996 (GRCm39) Y393C probably damaging Het
Nr2e1 T G 10: 42,443,975 (GRCm39) N249T probably damaging Het
Pex11g A G 8: 3,515,898 (GRCm39) V45A probably benign Het
Pkhd1 C A 1: 20,279,484 (GRCm39) G2945W probably damaging Het
Plxnd1 A G 6: 115,970,589 (GRCm39) F393S probably damaging Het
Ppp3cc A G 14: 70,473,938 (GRCm39) V353A probably damaging Het
Prss16 T A 13: 22,187,205 (GRCm39) Q455L probably damaging Het
Ptpn6 A T 6: 124,698,171 (GRCm39) V524E probably damaging Het
Rap1gap A G 4: 137,443,877 (GRCm39) Y163C probably damaging Het
Rnf31 C T 14: 55,836,239 (GRCm39) L598F probably damaging Het
Sardh T G 2: 27,115,003 (GRCm39) D550A probably benign Het
Serpinc1 T G 1: 160,827,562 (GRCm39) I387S probably damaging Het
Sh3d19 A T 3: 86,028,474 (GRCm39) D650V probably benign Het
Sipa1l2 T A 8: 126,218,750 (GRCm39) T196S probably damaging Het
Slc25a46 T C 18: 31,716,621 (GRCm39) T294A probably benign Het
Srrm2 T C 17: 24,034,756 (GRCm39) probably benign Het
Steap2 T A 5: 5,727,612 (GRCm39) N241I probably benign Het
Tcaf3 T C 6: 42,573,594 (GRCm39) Y206C probably damaging Het
Tmem259 T A 10: 79,814,297 (GRCm39) Q322L probably damaging Het
Tnni2 C A 7: 141,997,166 (GRCm39) Q52K possibly damaging Het
Ttn A G 2: 76,565,372 (GRCm39) V28285A possibly damaging Het
Uba7 T A 9: 107,853,352 (GRCm39) S99R probably benign Het
Ubxn2b A T 4: 6,216,071 (GRCm39) K331N probably damaging Het
Vmn2r116 G A 17: 23,604,973 (GRCm39) M95I probably benign Het
Vmn2r116 T A 17: 23,604,978 (GRCm39) L97Q probably damaging Het
Vmn2r24 A T 6: 123,763,843 (GRCm39) N240I possibly damaging Het
Vmn2r72 T C 7: 85,399,901 (GRCm39) R383G probably benign Het
Other mutations in Usp50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Usp50 APN 2 126,551,334 (GRCm39) missense probably damaging 0.98
IGL01565:Usp50 APN 2 126,619,888 (GRCm39) nonsense probably null
IGL01976:Usp50 APN 2 126,551,386 (GRCm39) missense probably benign 0.10
IGL02192:Usp50 APN 2 126,619,958 (GRCm39) missense possibly damaging 0.94
IGL02892:Usp50 APN 2 126,611,822 (GRCm39) missense probably damaging 1.00
PIT4453001:Usp50 UTSW 2 126,625,236 (GRCm39) start gained probably benign
R0034:Usp50 UTSW 2 126,619,895 (GRCm39) missense possibly damaging 0.89
R0382:Usp50 UTSW 2 126,619,848 (GRCm39) missense probably damaging 1.00
R0433:Usp50 UTSW 2 126,603,464 (GRCm39) missense probably damaging 0.98
R1146:Usp50 UTSW 2 126,551,392 (GRCm39) missense probably benign 0.02
R1457:Usp50 UTSW 2 126,603,554 (GRCm39) missense probably benign 0.41
R1475:Usp50 UTSW 2 126,611,787 (GRCm39) splice site probably null
R1758:Usp50 UTSW 2 126,617,782 (GRCm39) missense probably damaging 1.00
R1889:Usp50 UTSW 2 126,619,818 (GRCm39) critical splice donor site probably null
R1940:Usp50 UTSW 2 126,619,943 (GRCm39) missense probably benign 0.03
R1959:Usp50 UTSW 2 126,619,881 (GRCm39) missense possibly damaging 0.91
R2698:Usp50 UTSW 2 126,619,949 (GRCm39) missense probably damaging 0.97
R4648:Usp50 UTSW 2 126,619,953 (GRCm39) missense probably damaging 0.98
R4809:Usp50 UTSW 2 126,619,773 (GRCm39) intron probably benign
R6247:Usp50 UTSW 2 126,617,713 (GRCm39) missense probably benign 0.33
R7030:Usp50 UTSW 2 126,622,395 (GRCm39) missense possibly damaging 0.78
R7186:Usp50 UTSW 2 126,625,218 (GRCm39) start gained probably benign
R7522:Usp50 UTSW 2 126,625,146 (GRCm39) missense probably damaging 1.00
R8110:Usp50 UTSW 2 126,622,250 (GRCm39) splice site probably null
R8856:Usp50 UTSW 2 126,622,477 (GRCm39) missense probably damaging 0.99
R9449:Usp50 UTSW 2 126,619,817 (GRCm39) critical splice donor site probably null
X0064:Usp50 UTSW 2 126,603,566 (GRCm39) nonsense probably null
Posted On 2015-04-16