Incidental Mutation 'R5877:Usp33'
ID 455583
Institutional Source Beutler Lab
Gene Symbol Usp33
Ensembl Gene ENSMUSG00000025437
Gene Name ubiquitin specific peptidase 33
Synonyms Vdu1, 9830169D19Rik
MMRRC Submission 044083-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R5877 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 152052115-152099254 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 152085113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 583 (M583K)
Ref Sequence ENSEMBL: ENSMUSP00000026507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026507] [ENSMUST00000117492] [ENSMUST00000197748]
AlphaFold Q8R5K2
Predicted Effect possibly damaging
Transcript: ENSMUST00000026507
AA Change: M583K

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026507
Gene: ENSMUSG00000025437
AA Change: M583K

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: M583K

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113265
Gene: ENSMUSG00000025437
AA Change: M583K

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: ENSMUST00000197600
Predicted Effect probably benign
Transcript: ENSMUST00000197748
AA Change: M591K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000142708
Gene: ENSMUSG00000025437
AA Change: M591K

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 0.6382 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 97% (68/70)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,822 (GRCm39) H213L probably damaging Het
Alk A G 17: 72,274,521 (GRCm39) W597R probably damaging Het
Ark2n G T 18: 77,730,902 (GRCm39) probably null Het
Ash1l G A 3: 88,888,891 (GRCm39) V257I probably benign Het
Atp9b C T 18: 80,796,004 (GRCm39) V957I probably benign Het
Birc2 A C 9: 7,849,347 (GRCm39) C576G probably damaging Het
Brca2 T C 5: 150,466,686 (GRCm39) M2150T possibly damaging Het
C3ar1 T G 6: 122,827,581 (GRCm39) D212A probably benign Het
Cacna1s T C 1: 136,028,405 (GRCm39) F914S probably damaging Het
Camk1d T C 2: 5,570,476 (GRCm39) I62V probably benign Het
Caskin1 T C 17: 24,724,239 (GRCm39) M1009T possibly damaging Het
Casp2 A G 6: 42,253,571 (GRCm39) probably benign Het
Cd2bp2 T A 7: 126,793,971 (GRCm39) Y106F probably damaging Het
Celsr3 G A 9: 108,722,926 (GRCm39) C2763Y probably damaging Het
Cyp2g1 T G 7: 26,516,065 (GRCm39) L310V possibly damaging Het
Dusp22 G A 13: 30,891,944 (GRCm39) V99M probably damaging Het
Elp1 A T 4: 56,787,807 (GRCm39) W375R probably damaging Het
Fam131b G A 6: 42,297,913 (GRCm39) S92L probably benign Het
Fbxw10 A T 11: 62,748,542 (GRCm39) N390Y probably damaging Het
Flg2 A T 3: 93,110,756 (GRCm39) H928L unknown Het
Gapdhs T C 7: 30,431,772 (GRCm39) T280A probably damaging Het
Hdac11 A G 6: 91,134,524 (GRCm39) K50E probably damaging Het
Hif3a G T 7: 16,785,071 (GRCm39) A181E probably damaging Het
Itgb8 A G 12: 119,166,271 (GRCm39) S87P probably benign Het
Klhl12 T A 1: 134,411,558 (GRCm39) Y302* probably null Het
Lhx1 C A 11: 84,413,065 (GRCm39) D30Y probably damaging Het
Mrpl40 A G 16: 18,691,135 (GRCm39) Y148H probably damaging Het
Myh13 A T 11: 67,244,484 (GRCm39) H1007L possibly damaging Het
Nhlrc2 T C 19: 56,559,016 (GRCm39) I167T probably damaging Het
Nxpe3 A T 16: 55,686,564 (GRCm39) I148K probably damaging Het
Odf2l A G 3: 144,834,771 (GRCm39) probably null Het
Otud7b C T 3: 96,059,277 (GRCm39) R347* probably null Het
P3h4 G T 11: 100,304,843 (GRCm39) H181Q probably benign Het
P4htm T A 9: 108,460,932 (GRCm39) Y180F possibly damaging Het
Pcna-ps2 A G 19: 9,261,463 (GRCm39) I241V probably benign Het
Pcnx2 T C 8: 126,480,467 (GRCm39) S1947G probably damaging Het
Piezo2 T C 18: 63,247,005 (GRCm39) I336V probably benign Het
Plcd1 T C 9: 118,905,240 (GRCm39) D157G probably damaging Het
Plekhm2 A C 4: 141,367,004 (GRCm39) I212S probably damaging Het
Pmvk G T 3: 89,371,676 (GRCm39) C57F probably benign Het
Pole T C 5: 110,480,329 (GRCm39) S91P probably benign Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Ppp4r3b A T 11: 29,159,356 (GRCm39) D570V probably damaging Het
Pxdn T A 12: 30,053,045 (GRCm39) I1074N probably damaging Het
Ralgapa2 A T 2: 146,230,489 (GRCm39) D1025E probably damaging Het
Ralgps1 A G 2: 33,133,640 (GRCm39) probably benign Het
Rasal1 C T 5: 120,817,135 (GRCm39) probably benign Het
Rps2 A T 17: 24,939,890 (GRCm39) probably benign Het
Scn7a G C 2: 66,530,217 (GRCm39) Y709* probably null Het
Skint1 T A 4: 111,878,720 (GRCm39) C217* probably null Het
Slc50a1 T C 3: 89,176,460 (GRCm39) Y82C probably damaging Het
Slc9a4 T C 1: 40,651,423 (GRCm39) V567A probably benign Het
Snx27 A T 3: 94,410,270 (GRCm39) W469R probably damaging Het
Sos2 A G 12: 69,643,569 (GRCm39) L937P probably damaging Het
Ssh1 T C 5: 114,081,181 (GRCm39) T728A probably benign Het
Tnfrsf8 G A 4: 145,019,257 (GRCm39) R193C probably benign Het
Tut4 T C 4: 108,370,120 (GRCm39) V673A probably damaging Het
Wdfy3 T C 5: 102,017,855 (GRCm39) I2562V probably damaging Het
Wnk2 T C 13: 49,220,782 (GRCm39) D1175G probably damaging Het
Zfp341 G A 2: 154,474,209 (GRCm39) E338K probably damaging Het
Zfp398 A G 6: 47,817,638 (GRCm39) probably benign Het
Zp2 T A 7: 119,732,562 (GRCm39) K661N probably null 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
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
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'- CTGGAATCAGGTCAGAATTCAGGG -3'
(R):5'- TTCTCCCTTTGGTCAAGTGG -3'

Sequencing Primer
(F):5'- AAATTTCTGTGCATTCCAGGCCAG -3'
(R):5'- GGTCAAGTGGGGCTTATTTAAG -3'
Posted On 2017-02-10