Incidental Mutation 'R5913:Usp33'
ID 461100
Institutional Source Beutler Lab
Gene Symbol Usp33
Ensembl Gene ENSMUSG00000025437
Gene Name ubiquitin specific peptidase 33
Synonyms Vdu1, 9830169D19Rik
MMRRC Submission 044110-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R5913 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 152052115-152099254 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152086229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 656 (V656A)
Ref Sequence ENSEMBL: ENSMUSP00000113265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026507] [ENSMUST00000117492] [ENSMUST00000197748]
AlphaFold Q8R5K2
Predicted Effect probably damaging
Transcript: ENSMUST00000026507
AA Change: V656A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: V656A

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: V656A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: V656A

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: V664A

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: V664A

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: ENSMUST00000200075
Meta Mutation Damage Score 0.4428 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency 97% (75/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2cl A T 9: 110,718,773 (GRCm39) probably null Het
Arhgef19 A T 4: 140,976,609 (GRCm39) H457L probably benign Het
Armc3 A G 2: 19,314,858 (GRCm39) Y856C possibly damaging Het
Bdp1 A T 13: 100,187,612 (GRCm39) V1585D probably benign Het
Bhlhe40 T G 6: 108,642,154 (GRCm39) M366R possibly damaging Het
Bora C T 14: 99,305,948 (GRCm39) S439L probably benign Het
Cacnb4 G A 2: 52,324,796 (GRCm39) probably benign Het
Carm1 T C 9: 21,498,848 (GRCm39) S529P probably benign Het
Cd200r1 A G 16: 44,610,034 (GRCm39) I84M possibly damaging Het
Cd209a A G 8: 3,798,742 (GRCm39) S22P probably benign Het
Celf2 A T 2: 7,085,969 (GRCm39) M1K probably null Het
Cep112 A G 11: 108,648,514 (GRCm39) T783A probably damaging Het
Cep95 T C 11: 106,709,335 (GRCm39) probably benign Het
Clip4 G A 17: 72,131,760 (GRCm39) R366K probably benign Het
Csmd2 A G 4: 128,445,781 (GRCm39) K3284E probably benign Het
Csn3 T A 5: 88,075,470 (GRCm39) L12Q probably damaging Het
Ctdnep1 T C 11: 69,879,691 (GRCm39) L39P probably damaging Het
Cxcl17 C T 7: 25,101,671 (GRCm39) W55* probably null Het
Cyp2u1 G A 3: 131,096,860 (GRCm39) probably benign Het
Dmgdh A T 13: 93,888,831 (GRCm39) E823V possibly damaging Het
Dnah2 T C 11: 69,339,256 (GRCm39) I3078V probably damaging Het
Dpp10 A C 1: 123,312,018 (GRCm39) Y446D probably damaging Het
Eif2s3y T C Y: 1,017,365 (GRCm39) V290A probably benign Homo
Fktn G A 4: 53,735,035 (GRCm39) W224* probably null Het
Gm37240 T C 3: 84,874,905 (GRCm39) probably benign Het
Gpr3 A G 4: 132,938,489 (GRCm39) V61A probably damaging Het
Gulo T C 14: 66,237,470 (GRCm39) probably null Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hectd4 T A 5: 121,462,037 (GRCm39) I968K possibly damaging Het
Hmox2 G T 16: 4,582,732 (GRCm39) R155L probably damaging Het
Ifnlr1 C A 4: 135,432,580 (GRCm39) Q339K probably damaging Het
Ifnlr1 A T 4: 135,432,581 (GRCm39) Q339L probably damaging Het
Irf4 T A 13: 30,941,741 (GRCm39) S365T probably benign Het
Klrb1a T G 6: 128,595,472 (GRCm39) D124A probably damaging Het
Macf1 A T 4: 123,369,832 (GRCm39) I78N probably damaging Het
Mctp1 G T 13: 76,907,944 (GRCm39) probably null Het
Muc21 C T 17: 35,934,123 (GRCm39) probably benign Het
Mxra8 A T 4: 155,927,760 (GRCm39) probably null Het
Nlrp2 T A 7: 5,327,902 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
P2ry13 T C 3: 59,116,786 (GRCm39) T331A probably benign Het
Padi2 G A 4: 140,644,952 (GRCm39) R62H probably benign Het
Pcdhb15 A T 18: 37,607,707 (GRCm39) Q313L probably benign Het
Pcdhga11 A G 18: 37,889,045 (GRCm39) I18V probably benign Het
Pcdhga11 A G 18: 37,891,142 (GRCm39) R717G probably benign Het
Pcif1 C A 2: 164,726,412 (GRCm39) probably benign Het
Pkd1l1 T C 11: 8,813,849 (GRCm39) T1501A probably benign Het
Plekhg2 C A 7: 28,064,027 (GRCm39) R473L probably damaging Het
Plekhn1 T C 4: 156,307,152 (GRCm39) Y466C probably damaging Het
Sec22c A G 9: 121,519,368 (GRCm39) S83P possibly damaging Het
Sgcz T A 8: 37,993,425 (GRCm39) Q224L possibly damaging Het
Slc27a1 C T 8: 72,036,907 (GRCm39) P381L probably benign Het
Slc8a1 T A 17: 81,955,431 (GRCm39) I536F probably damaging Het
Src T A 2: 157,307,950 (GRCm39) probably null Het
Sybu T A 15: 44,651,017 (GRCm39) T96S probably damaging Het
Tbc1d22a T C 15: 86,235,929 (GRCm39) Y363H probably damaging Het
Tdrd6 T C 17: 43,939,302 (GRCm39) E582G possibly damaging Het
Tmem131 C A 1: 36,858,209 (GRCm39) V713L probably benign Het
Tnfsf13b T A 8: 10,056,988 (GRCm39) L49Q probably damaging Het
Trem2 T A 17: 48,653,661 (GRCm39) probably benign Het
Tspyl3 T A 2: 153,066,636 (GRCm39) M201L probably benign Het
Ttl A G 2: 128,917,961 (GRCm39) D141G probably benign Het
Ube2z A G 11: 95,951,889 (GRCm39) V153A possibly damaging Het
Ubr3 A G 2: 69,851,559 (GRCm39) Y1842C probably damaging Het
Vmn2r74 G A 7: 85,601,098 (GRCm39) R847C probably damaging Het
Vmo1 A T 11: 70,405,241 (GRCm39) V63D probably damaging Het
Zcwpw1 T A 5: 137,798,269 (GRCm39) D155E probably benign Het
Zeb1 T G 18: 5,766,765 (GRCm39) S425R possibly 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
R5920:Usp33 UTSW 3 152,080,320 (GRCm39) missense probably damaging 1.00
R6331:Usp33 UTSW 3 152,081,887 (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'- TGCTTCCTGTCTTACAGTGG -3'
(R):5'- GTACCATTCTGTAAACAGCTTCTC -3'

Sequencing Primer
(F):5'- TGCTGAGAGTGCAGACTGAAATAATC -3'
(R):5'- CTCTCTTACTCATGAGCGTGCAC -3'
Posted On 2017-02-28