Incidental Mutation 'IGL02037:Usp11'
ID 184556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp11
Ensembl Gene ENSMUSG00000031066
Gene Name ubiquitin specific peptidase 11
Synonyms 6230415D12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02037
Quality Score
Status
Chromosome X
Chromosomal Location 20570148-20586778 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20585381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 785 (I785T)
Ref Sequence ENSEMBL: ENSMUSP00000033383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033383]
AlphaFold Q99K46
Predicted Effect probably damaging
Transcript: ENSMUST00000033383
AA Change: I785T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033383
Gene: ENSMUSG00000031066
AA Change: I785T

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
DUSP 44 136 1.37e-36 SMART
Pfam:Ubiquitin_3 146 234 5.6e-14 PFAM
Pfam:UCH 256 886 5.1e-83 PFAM
Pfam:UCH_1 257 448 1.6e-7 PFAM
Pfam:UCH_1 658 868 2.9e-13 PFAM
low complexity region 898 915 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149960
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This gene encodes a deubiquitinating enzyme which lies in a gene cluster on chromosome Xp11.23 [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T A 6: 92,804,997 (GRCm39) probably benign Het
Ace2 T A X: 162,946,996 (GRCm39) V293D probably damaging Het
Adgrg6 T C 10: 14,317,185 (GRCm39) Y545C probably damaging Het
Arhgap40 A G 2: 158,376,742 (GRCm39) T293A probably damaging Het
Arhgef19 A G 4: 140,973,707 (GRCm39) T65A probably damaging Het
Brf1 A G 12: 112,956,682 (GRCm39) probably null Het
Cbfb T C 8: 105,905,252 (GRCm39) S65P possibly damaging Het
Chsy1 T C 7: 65,821,576 (GRCm39) S604P possibly damaging Het
Ckmt1 T C 2: 121,191,643 (GRCm39) V271A probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd2 T C 4: 128,371,263 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,038,559 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,007 (GRCm39) T492A probably benign Het
Fam3a G A X: 73,430,241 (GRCm39) T156I probably damaging Het
Fbn2 A T 18: 58,229,087 (GRCm39) C708S probably damaging Het
Fgf5 G A 5: 98,409,831 (GRCm39) G127R probably damaging Het
Fhip1a T G 3: 85,637,939 (GRCm39) K120T probably damaging Het
Fn3k A T 11: 121,325,909 (GRCm39) Y32F probably benign Het
Frem3 T C 8: 81,338,118 (GRCm39) I137T probably benign Het
Hc T C 2: 34,903,531 (GRCm39) D1041G probably benign Het
Heatr6 T A 11: 83,655,708 (GRCm39) probably benign Het
Hivep1 G A 13: 42,309,553 (GRCm39) A598T probably benign Het
Ifngr1 T C 10: 19,483,007 (GRCm39) S254P probably benign Het
Kel T C 6: 41,674,408 (GRCm39) S341G probably benign Het
Klra6 A C 6: 129,990,439 (GRCm39) M224R probably benign Het
Mis18bp1 A G 12: 65,183,522 (GRCm39) probably null Het
Mpeg1 C T 19: 12,440,660 (GRCm39) T706I probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Or5al7 G T 2: 85,993,181 (GRCm39) F37L probably benign Het
Palld T C 8: 61,978,148 (GRCm39) R881G probably damaging Het
Pdha2 A T 3: 140,916,662 (GRCm39) V282E probably damaging Het
Pga5 C T 19: 10,654,065 (GRCm39) R46Q probably benign Het
Plekhg2 T C 7: 28,068,122 (GRCm39) Y189C probably damaging Het
Rnf43 A G 11: 87,622,479 (GRCm39) T527A probably benign Het
Rplp0 G A 5: 115,699,174 (GRCm39) R73Q probably benign Het
Smco3 A G 6: 136,808,197 (GRCm39) *226R probably null Het
Sugp2 T C 8: 70,712,324 (GRCm39) probably benign Het
Tsga10 T C 1: 37,846,098 (GRCm39) I343V probably benign Het
Ube2q2 A G 9: 55,075,502 (GRCm39) K104E probably damaging Het
Ube3a C T 7: 58,925,506 (GRCm39) probably benign Het
Vmn2r22 A T 6: 123,626,026 (GRCm39) C137S probably damaging Het
Zfp281 T C 1: 136,555,185 (GRCm39) V721A possibly damaging Het
Zfp946 T C 17: 22,672,469 (GRCm39) S23P probably damaging Het
Zfyve1 A G 12: 83,594,694 (GRCm39) V766A probably damaging Het
Other mutations in Usp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Usp11 APN X 20,585,591 (GRCm39) missense probably benign 0.09
IGL02583:Usp11 APN X 20,584,284 (GRCm39) missense probably benign 0.01
IGL03194:Usp11 APN X 20,578,656 (GRCm39) missense probably benign 0.00
R1413:Usp11 UTSW X 20,584,946 (GRCm39) missense probably damaging 1.00
R2926:Usp11 UTSW X 20,584,031 (GRCm39) missense probably damaging 0.99
R3607:Usp11 UTSW X 20,580,871 (GRCm39) missense probably damaging 1.00
X0028:Usp11 UTSW X 20,578,329 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07