Incidental Mutation 'IGL02095:Usp33'
ID279594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp33
Ensembl Gene ENSMUSG00000025437
Gene Nameubiquitin specific peptidase 33
SynonymsVdu1, 9830169D19Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.838) question?
Stock #IGL02095
Quality Score
Status
Chromosome3
Chromosomal Location152346478-152393617 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 152381794 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 699 (F699L)
Ref Sequence ENSEMBL: ENSMUSP00000113265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026507] [ENSMUST00000117492] [ENSMUST00000197748]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026507
AA Change: F699L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: F699L

DomainStartEndE-ValueType
Pfam:zf-UBP 30 95 1.7e-18 PFAM
low complexity region 136 148 N/A INTRINSIC
Pfam:UCH 153 671 2.2e-71 PFAM
Pfam:UCH_1 154 387 1.4e-9 PFAM
Pfam:UCH_1 371 653 6.8e-25 PFAM
DUSP 691 774 4.4e-17 SMART
DUSP 799 883 2.44e-33 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117492
AA Change: F699L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: F699L

DomainStartEndE-ValueType
Pfam:zf-UBP 30 95 1e-18 PFAM
low complexity region 136 148 N/A INTRINSIC
Pfam:UCH 153 679 1.6e-64 PFAM
Pfam:UCH_1 154 387 1.2e-8 PFAM
Pfam:UCH_1 366 661 1.3e-23 PFAM
DUSP 699 782 4.4e-17 SMART
DUSP 807 891 2.44e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197325
Predicted Effect probably benign
Transcript: ENSMUST00000197748
AA Change: F707L

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: F707L

DomainStartEndE-ValueType
Pfam:zf-UBP 30 95 1.7e-18 PFAM
low complexity region 136 148 N/A INTRINSIC
Pfam:UCH 153 679 2.3e-71 PFAM
Pfam:UCH_1 154 383 1.2e-9 PFAM
Pfam:UCH_1 368 661 1e-24 PFAM
DUSP 699 782 4.4e-17 SMART
DUSP 807 891 2.44e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200075
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated through ubiquitination by von Hippel-Lindau tumor protein (VHL). Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,661,626 Q794L probably benign Het
Acrbp C A 6: 125,053,956 Y313* probably null Het
Adam9 A G 8: 24,996,729 S178P probably benign Het
Adgrv1 T C 13: 81,579,790 I244V possibly damaging Het
Atad5 A G 11: 80,094,707 S207G probably benign Het
Atp10a A G 7: 58,807,393 D880G probably damaging Het
Cadps2 A G 6: 23,427,310 I573T probably benign Het
Camsap3 A G 8: 3,603,845 D494G probably damaging Het
Cbfa2t3 T C 8: 122,633,493 E438G probably damaging Het
Cisd2 T C 3: 135,411,219 D37G possibly damaging Het
Cndp2 T C 18: 84,681,032 E36G possibly damaging Het
Ddx54 G A 5: 120,623,791 G544D possibly damaging Het
Dok2 G T 14: 70,777,861 G343W possibly damaging Het
Dscaml1 A G 9: 45,447,703 N87D probably damaging Het
Ehf T C 2: 103,266,991 Y237C probably damaging Het
Exoc3 T C 13: 74,180,536 T569A probably damaging Het
Fam151a T C 4: 106,747,875 V478A probably damaging Het
Fam227b T A 2: 126,101,004 H291L probably damaging Het
Fmn2 A G 1: 174,502,601 T186A unknown Het
Ggnbp2 T C 11: 84,833,128 Y660C probably damaging Het
Ggt5 G A 10: 75,608,803 M318I probably benign Het
Gprc5d A G 6: 135,116,177 I244T probably damaging Het
Gucy2e A G 11: 69,232,787 S429P possibly damaging Het
Igf2r T C 17: 12,702,005 D1341G probably damaging Het
Kcnq4 T C 4: 120,700,027 probably benign Het
Krt40 T C 11: 99,541,671 D173G probably damaging Het
Lrrc27 C T 7: 139,230,253 T380I probably benign Het
Lrrc4c A G 2: 97,629,404 N125S probably benign Het
Mtor C T 4: 148,544,541 R2217C probably damaging Het
Nfrkb C T 9: 31,411,231 R866W probably damaging Het
Olfr1424 C A 19: 12,059,549 V68F probably benign Het
Olfr982 T A 9: 40,074,671 Y125* probably null Het
P2ry6 T A 7: 100,938,864 D96V probably damaging Het
Pcdh18 A T 3: 49,756,156 S237T probably benign Het
Pck2 G A 14: 55,542,510 R72Q probably benign Het
Pik3c2a C T 7: 116,346,188 R1461Q probably damaging Het
Polr3a A G 14: 24,454,610 V1130A possibly damaging Het
Ppm1d T A 11: 85,327,006 D198E probably benign Het
Rasa1 T A 13: 85,216,155 E1022D probably benign Het
Rbm25 T C 12: 83,671,974 Y507H probably damaging Het
Rbm26 A T 14: 105,144,260 I488K probably damaging Het
Ryr2 T A 13: 11,759,759 E1170D probably damaging Het
Sdk2 T G 11: 113,834,830 T1198P probably damaging Het
Sema3g C T 14: 31,227,824 T654I probably benign Het
Spag9 A T 11: 94,108,582 H1108L probably damaging Het
Tcrg-C2 T A 13: 19,307,410 probably benign Het
Ubap2 T C 4: 41,229,709 N142S probably benign Het
Ythdc2 A G 18: 44,873,140 probably benign Het
Other mutations in Usp33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Usp33 APN 3 152373409 missense probably benign 0.00
IGL01085:Usp33 APN 3 152368569 missense possibly damaging 0.89
IGL01335:Usp33 APN 3 152392217 missense probably damaging 0.99
IGL02323:Usp33 APN 3 152370387 missense probably benign
IGL03010:Usp33 APN 3 152368596 missense probably benign 0.04
R0464:Usp33 UTSW 3 152376235 splice site probably benign
R0576:Usp33 UTSW 3 152384119 nonsense probably null
R0583:Usp33 UTSW 3 152368254 missense probably damaging 1.00
R0715:Usp33 UTSW 3 152380574 missense probably damaging 1.00
R1445:Usp33 UTSW 3 152368634 missense probably damaging 0.99
R1507:Usp33 UTSW 3 152374763 missense possibly damaging 0.84
R1600:Usp33 UTSW 3 152379610 missense probably damaging 0.98
R1673:Usp33 UTSW 3 152368282 missense probably damaging 1.00
R1945:Usp33 UTSW 3 152379586 missense probably benign 0.07
R1961:Usp33 UTSW 3 152380628 missense probably damaging 1.00
R1973:Usp33 UTSW 3 152360286 missense possibly damaging 0.64
R2231:Usp33 UTSW 3 152373386 missense probably benign 0.00
R2299:Usp33 UTSW 3 152374621 missense probably damaging 0.99
R3001:Usp33 UTSW 3 152357942 missense probably damaging 0.99
R3002:Usp33 UTSW 3 152357942 missense probably damaging 0.99
R3923:Usp33 UTSW 3 152374791 critical splice donor site probably null
R4366:Usp33 UTSW 3 152368512 missense probably benign 0.44
R4821:Usp33 UTSW 3 152358673 missense probably benign 0.00
R5256:Usp33 UTSW 3 152391696 nonsense probably null
R5396:Usp33 UTSW 3 152384187 missense possibly damaging 0.77
R5445:Usp33 UTSW 3 152374623 missense probably damaging 1.00
R5877:Usp33 UTSW 3 152379476 missense possibly damaging 0.91
R5877:Usp33 UTSW 3 152379596 missense probably damaging 1.00
R5884:Usp33 UTSW 3 152368330 missense probably benign
R5913:Usp33 UTSW 3 152380592 missense probably damaging 1.00
R5920:Usp33 UTSW 3 152374683 missense probably damaging 1.00
R6331:Usp33 UTSW 3 152376250 missense probably damaging 1.00
R6516:Usp33 UTSW 3 152373416 missense probably benign 0.01
R6624:Usp33 UTSW 3 152381798 missense probably damaging 1.00
R6679:Usp33 UTSW 3 152368487 missense possibly damaging 0.46
R7196:Usp33 UTSW 3 152384191 missense possibly damaging 0.87
R7250:Usp33 UTSW 3 152392362 nonsense probably null
R7310:Usp33 UTSW 3 152360389 nonsense probably null
R7569:Usp33 UTSW 3 152391665 missense probably damaging 1.00
R7644:Usp33 UTSW 3 152357952 missense possibly damaging 0.47
X0025:Usp33 UTSW 3 152366758 missense probably damaging 1.00
X0058:Usp33 UTSW 3 152360346 missense probably damaging 1.00
Posted On2015-04-16