Incidental Mutation 'R6331:Usp33'
ID 510898
Institutional Source Beutler Lab
Gene Symbol Usp33
Ensembl Gene ENSMUSG00000025437
Gene Name ubiquitin specific peptidase 33
Synonyms Vdu1, 9830169D19Rik
MMRRC Submission 044485-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R6331 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 152052115-152099254 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 152081887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 546 (M546L)
Ref Sequence ENSEMBL: ENSMUSP00000026507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026507] [ENSMUST00000117492] [ENSMUST00000123237] [ENSMUST00000197748]
AlphaFold Q8R5K2
Predicted Effect probably damaging
Transcript: ENSMUST00000026507
AA Change: M546L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: M546L

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 damaging
Transcript: ENSMUST00000117492
AA Change: M546L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: M546L

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 probably benign
Transcript: ENSMUST00000197600
Predicted Effect probably benign
Transcript: ENSMUST00000197748
AA Change: M554L

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: M554L

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: ENSMUST00000198647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198950
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,529,199 (GRCm39) D981G probably damaging Het
Abcc1 C A 16: 14,282,920 (GRCm39) A1132D probably damaging Het
Adamts12 A G 15: 11,241,519 (GRCm39) T364A probably damaging Het
Ahnak A T 19: 8,983,989 (GRCm39) M1758L probably benign Het
Ak9 T C 10: 41,258,825 (GRCm39) V774A probably damaging Het
Ash1l A G 3: 88,915,172 (GRCm39) E1934G probably benign Het
Atp2b2 C T 6: 113,774,092 (GRCm39) A341T probably benign Het
Bach2 G T 4: 32,238,816 (GRCm39) probably benign Het
Bltp3a T C 17: 28,112,175 (GRCm39) I1150T probably benign Het
Brd10 C T 19: 29,695,147 (GRCm39) V1449I probably benign Het
Ccdc102a T C 8: 95,638,144 (GRCm39) T241A probably benign Het
Chd5 G T 4: 152,466,865 (GRCm39) R1627S probably benign Het
Clint1 T C 11: 45,785,908 (GRCm39) S322P probably benign Het
Dapk1 T A 13: 60,877,256 (GRCm39) C498* probably null Het
Diaph3 T G 14: 87,103,976 (GRCm39) S803R probably damaging Het
Dmp1 T C 5: 104,354,991 (GRCm39) L10P probably damaging Het
Gcc2 T C 10: 58,107,287 (GRCm39) V741A probably benign Het
Gldn A G 9: 54,194,162 (GRCm39) M119V probably benign Het
Gucy1b1 A G 3: 81,941,718 (GRCm39) S574P possibly damaging Het
Hapln4 T A 8: 70,537,073 (GRCm39) probably benign Het
Hars1 A G 18: 36,904,385 (GRCm39) V209A probably benign Het
Htt T A 5: 35,053,231 (GRCm39) F2521L possibly damaging Het
Kif14 A G 1: 136,443,724 (GRCm39) D1299G probably null Het
Krt25 T A 11: 99,208,253 (GRCm39) E325V probably damaging Het
Lcmt1 T C 7: 122,977,405 (GRCm39) probably benign Het
Lrp1b A T 2: 40,693,221 (GRCm39) N3266K probably damaging Het
Mctp1 T A 13: 77,168,982 (GRCm39) probably null Het
Mtarc2 A G 1: 184,551,525 (GRCm39) S304P probably damaging Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Myom3 A G 4: 135,503,688 (GRCm39) N379S possibly damaging Het
Nbea A T 3: 55,908,037 (GRCm39) D1358E possibly damaging Het
Nod1 T C 6: 54,901,968 (GRCm39) E939G probably damaging Het
Obox1 A G 7: 15,289,294 (GRCm39) R70G probably benign Het
Or13c25 A G 4: 52,911,399 (GRCm39) Y132H probably damaging Het
Or13p3 A G 4: 118,567,144 (GRCm39) E180G probably benign Het
Or4a2 C T 2: 89,248,695 (GRCm39) G21S probably benign Het
Or5m12 T C 2: 85,734,560 (GRCm39) I279M probably benign Het
Otof T C 5: 30,529,279 (GRCm39) D1745G possibly damaging Het
Pklr A G 3: 89,044,662 (GRCm39) I47V probably damaging Het
Pms2 T A 5: 143,851,451 (GRCm39) S123T possibly damaging Het
Pnpla2 T C 7: 141,039,198 (GRCm39) S337P probably damaging Het
Ptgfrn A C 3: 100,952,936 (GRCm39) V766G possibly damaging Het
Ptpn11 T A 5: 121,282,716 (GRCm39) H419L probably damaging Het
Rims3 T A 4: 120,740,350 (GRCm39) V99E probably damaging Het
Rmc1 G A 18: 12,313,571 (GRCm39) R228H probably damaging Het
Samd9l A G 6: 3,376,361 (GRCm39) V300A probably damaging Het
Sdad1 T C 5: 92,451,789 (GRCm39) D144G probably damaging Het
Siglecg T C 7: 43,058,178 (GRCm39) Y22H possibly damaging Het
Slc39a1 A G 3: 90,159,588 (GRCm39) K305R possibly damaging Het
Slc5a4a A G 10: 76,014,034 (GRCm39) R414G probably damaging Het
Smg1 T C 7: 117,753,500 (GRCm39) probably benign Het
Tbc1d9b C T 11: 50,022,324 (GRCm39) A20V possibly damaging Het
Tgfb3 G T 12: 86,110,638 (GRCm39) D237E probably benign Het
Tle6 A G 10: 81,431,073 (GRCm39) S234P probably benign Het
Tnrc6b A G 15: 80,763,815 (GRCm39) N439S probably benign Het
Trim33 T C 3: 103,248,925 (GRCm39) S783P probably benign Het
Ttn A T 2: 76,632,698 (GRCm39) Y12373N probably damaging Het
Tube1 G A 10: 39,010,097 (GRCm39) V7I probably benign Het
Tufm T C 7: 126,088,410 (GRCm39) V265A probably benign Het
Usp32 T C 11: 84,877,402 (GRCm39) H1550R possibly damaging Het
Uspl1 C A 5: 149,151,097 (GRCm39) Q752K probably benign Het
Vmn1r20 A G 6: 57,408,655 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,659,521 (GRCm39) F245S probably damaging Het
Vmn2r3 A G 3: 64,186,182 (GRCm39) S168P probably damaging Het
Wdr24 T G 17: 26,044,650 (GRCm39) D168E possibly damaging Het
Zfp646 C T 7: 127,482,853 (GRCm39) P1677S probably damaging Het
Other mutations in Usp33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Usp33 APN 3 152,079,046 (GRCm39) missense probably benign 0.00
IGL01085:Usp33 APN 3 152,074,206 (GRCm39) missense possibly damaging 0.89
IGL01335:Usp33 APN 3 152,097,854 (GRCm39) missense probably damaging 0.99
IGL02095:Usp33 APN 3 152,087,431 (GRCm39) missense possibly damaging 0.94
IGL02323:Usp33 APN 3 152,076,024 (GRCm39) missense probably benign
IGL03010:Usp33 APN 3 152,074,233 (GRCm39) missense probably benign 0.04
R0464:Usp33 UTSW 3 152,081,872 (GRCm39) splice site probably benign
R0576:Usp33 UTSW 3 152,089,756 (GRCm39) nonsense probably null
R0583:Usp33 UTSW 3 152,073,891 (GRCm39) missense probably damaging 1.00
R0715:Usp33 UTSW 3 152,086,211 (GRCm39) missense probably damaging 1.00
R1445:Usp33 UTSW 3 152,074,271 (GRCm39) missense probably damaging 0.99
R1507:Usp33 UTSW 3 152,080,400 (GRCm39) missense possibly damaging 0.84
R1600:Usp33 UTSW 3 152,085,247 (GRCm39) missense probably damaging 0.98
R1673:Usp33 UTSW 3 152,073,919 (GRCm39) missense probably damaging 1.00
R1945:Usp33 UTSW 3 152,085,223 (GRCm39) missense probably benign 0.07
R1961:Usp33 UTSW 3 152,086,265 (GRCm39) missense probably damaging 1.00
R1973:Usp33 UTSW 3 152,065,923 (GRCm39) missense possibly damaging 0.64
R2231:Usp33 UTSW 3 152,079,023 (GRCm39) missense probably benign 0.00
R2299:Usp33 UTSW 3 152,080,258 (GRCm39) missense probably damaging 0.99
R3001:Usp33 UTSW 3 152,063,579 (GRCm39) missense probably damaging 0.99
R3002:Usp33 UTSW 3 152,063,579 (GRCm39) missense probably damaging 0.99
R3923:Usp33 UTSW 3 152,080,428 (GRCm39) critical splice donor site probably null
R4366:Usp33 UTSW 3 152,074,149 (GRCm39) missense probably benign 0.44
R4821:Usp33 UTSW 3 152,064,310 (GRCm39) missense probably benign 0.00
R5256:Usp33 UTSW 3 152,097,333 (GRCm39) nonsense probably null
R5396:Usp33 UTSW 3 152,089,824 (GRCm39) missense possibly damaging 0.77
R5445:Usp33 UTSW 3 152,080,260 (GRCm39) missense probably damaging 1.00
R5877:Usp33 UTSW 3 152,085,233 (GRCm39) missense probably damaging 1.00
R5877:Usp33 UTSW 3 152,085,113 (GRCm39) missense possibly damaging 0.91
R5884:Usp33 UTSW 3 152,073,967 (GRCm39) missense probably benign
R5913:Usp33 UTSW 3 152,086,229 (GRCm39) missense probably damaging 1.00
R5920:Usp33 UTSW 3 152,080,320 (GRCm39) missense probably damaging 1.00
R6516:Usp33 UTSW 3 152,079,053 (GRCm39) missense probably benign 0.01
R6624:Usp33 UTSW 3 152,087,435 (GRCm39) missense probably damaging 1.00
R6679:Usp33 UTSW 3 152,074,124 (GRCm39) missense possibly damaging 0.46
R7196:Usp33 UTSW 3 152,089,828 (GRCm39) missense possibly damaging 0.87
R7250:Usp33 UTSW 3 152,097,999 (GRCm39) nonsense probably null
R7310:Usp33 UTSW 3 152,066,026 (GRCm39) nonsense probably null
R7569:Usp33 UTSW 3 152,097,302 (GRCm39) missense probably damaging 1.00
R7644:Usp33 UTSW 3 152,063,589 (GRCm39) missense possibly damaging 0.47
R8118:Usp33 UTSW 3 152,065,996 (GRCm39) missense probably damaging 1.00
R8229:Usp33 UTSW 3 152,075,929 (GRCm39) missense probably benign
R8333:Usp33 UTSW 3 152,080,297 (GRCm39) missense probably damaging 1.00
R8774:Usp33 UTSW 3 152,085,213 (GRCm39) nonsense probably null
R8774-TAIL:Usp33 UTSW 3 152,085,213 (GRCm39) nonsense probably null
R8854:Usp33 UTSW 3 152,073,967 (GRCm39) missense probably benign 0.10
R8953:Usp33 UTSW 3 152,080,420 (GRCm39) missense possibly damaging 0.92
R9480:Usp33 UTSW 3 152,079,086 (GRCm39) missense possibly damaging 0.90
X0025:Usp33 UTSW 3 152,072,395 (GRCm39) missense probably damaging 1.00
X0058:Usp33 UTSW 3 152,065,983 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTGCCCACACCATGCTTG -3'
(R):5'- CATGTAGAGTTAATGCAGACTCAG -3'

Sequencing Primer
(F):5'- GCATGTGGCAGGTATAGTAAATTC -3'
(R):5'- GAGTTAATGCAGACTCAGATACTTC -3'
Posted On 2018-04-02