Incidental Mutation 'IGL03010:Usp33'
ID407730
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: 0.855) question?
Stock #IGL03010
Quality Score
Status
Chromosome3
Chromosomal Location152346478-152393617 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 152368596 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 360 (V360F)
Ref Sequence ENSEMBL: ENSMUSP00000026507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026507] [ENSMUST00000117492] [ENSMUST00000123237] [ENSMUST00000197748]
Predicted Effect probably benign
Transcript: ENSMUST00000026507
AA Change: V360F

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: V360F

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 probably benign
Transcript: ENSMUST00000117492
AA Change: V360F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: V360F

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 probably benign
Transcript: ENSMUST00000123237
SMART Domains Protein: ENSMUSP00000117590
Gene: ENSMUSG00000025437

DomainStartEndE-ValueType
PDB:2UZG|A 5 45 2e-23 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196811
Predicted Effect unknown
Transcript: ENSMUST00000197600
AA Change: V56F
Predicted Effect probably benign
Transcript: ENSMUST00000197748
AA Change: V360F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: V360F

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: ENSMUST00000198950
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Adamts4 T C 1: 171,251,416 C202R probably damaging Het
Afap1l1 T C 18: 61,743,319 D409G probably benign Het
Atp6v1b2 T C 8: 69,105,882 I334T probably damaging Het
Btn2a2 A T 13: 23,486,205 Y119* probably null Het
Cct2 T C 10: 117,058,114 D245G probably damaging Het
Ercc2 A G 7: 19,391,566 K486E possibly damaging Het
Fam186b T C 15: 99,280,627 S273G possibly damaging Het
Fbxw24 T A 9: 109,623,610 I106L probably benign Het
Ghrhr T C 6: 55,384,757 I303T probably damaging Het
Habp2 T C 19: 56,311,223 probably null Het
Haus3 T A 5: 34,166,287 E326D probably benign Het
Hdac7 C T 15: 97,793,929 probably null Het
Hectd2 T A 19: 36,615,602 D722E probably benign Het
Il20ra G T 10: 19,749,212 G80W probably damaging Het
Jag1 T C 2: 137,093,198 probably benign Het
Lrp1b A G 2: 42,323,606 S65P possibly damaging Het
Lypd2 A G 15: 74,734,253 I12T probably benign Het
Nat2 T A 8: 67,502,012 L258Q probably damaging Het
Nwd1 T C 8: 72,688,060 probably benign Het
Olfr10 T A 11: 49,318,146 V200E probably damaging Het
Olfr206 A G 16: 59,344,772 probably benign Het
Olfr788 G T 10: 129,472,974 C94F probably damaging Het
Pcdh15 T A 10: 74,385,945 D692E probably damaging Het
Prkcz G T 4: 155,286,805 H134N probably damaging Het
Prmt8 T C 6: 127,729,535 T98A probably benign Het
Rps6kc1 C A 1: 190,911,606 E19* probably null Het
Rrp8 A G 7: 105,734,391 S223P probably benign Het
Sept10 G A 10: 59,170,955 probably benign Het
Serpinb7 T C 1: 107,452,011 probably benign Het
Spaca6 C A 17: 17,838,405 Q72K probably benign Het
Spag1 A G 15: 36,233,273 H712R probably benign Het
Spg11 C A 2: 122,088,320 A943S probably damaging Het
Tmem104 T C 11: 115,243,534 S298P probably benign Het
Ttn A G 2: 76,735,088 I28265T probably damaging Het
Vmn2r113 A G 17: 22,956,064 T550A possibly damaging Het
Zscan4d A T 7: 11,163,143 V128D probably damaging 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
IGL02095:Usp33 APN 3 152381794 missense possibly damaging 0.94
IGL02323:Usp33 APN 3 152370387 missense probably benign
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 On2016-08-02