Incidental Mutation 'IGL03194:Usp11'
ID 412739
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 # IGL03194
Quality Score
Status
Chromosome X
Chromosomal Location 20570148-20586778 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20578656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 162 (I162T)
Ref Sequence ENSEMBL: ENSMUSP00000033383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033383]
AlphaFold Q99K46
Predicted Effect probably benign
Transcript: ENSMUST00000033383
AA Change: I162T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000033383
Gene: ENSMUSG00000031066
AA Change: I162T

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: ENSMUST00000127294
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T C 8: 84,460,647 (GRCm39) S64G possibly damaging Het
Clcn7 T C 17: 25,369,522 (GRCm39) V306A probably damaging Het
Clec4b2 G A 6: 123,177,946 (GRCm39) G87D probably benign Het
Disp2 A T 2: 118,618,110 (GRCm39) R219W probably damaging Het
Dnaaf11 A T 15: 66,314,048 (GRCm39) D317E probably benign Het
Dstyk A T 1: 132,384,054 (GRCm39) probably benign Het
F830045P16Rik T C 2: 129,302,240 (GRCm39) S451G possibly damaging Het
Fat2 T A 11: 55,201,821 (GRCm39) T418S probably benign Het
Fto G A 8: 92,136,415 (GRCm39) D228N probably damaging Het
Gins4 A T 8: 23,724,762 (GRCm39) probably benign Het
Gm10220 T A 5: 26,326,231 (GRCm39) R40W probably damaging Het
Gm11149 G A 9: 49,457,646 (GRCm39) probably benign Het
Gm5431 T G 11: 48,786,364 (GRCm39) probably benign Het
Hebp1 A G 6: 135,132,190 (GRCm39) M59T probably benign Het
Lrp1 A T 10: 127,404,554 (GRCm39) V1989D probably damaging Het
Ltc4s T C 11: 50,127,398 (GRCm39) *151W probably null Het
Map3k21 A G 8: 126,650,801 (GRCm39) T268A possibly damaging Het
Mdp1 A G 14: 55,896,444 (GRCm39) L164P probably damaging Het
Mroh4 T C 15: 74,483,388 (GRCm39) T650A probably damaging Het
Mss51 T C 14: 20,535,165 (GRCm39) N202D probably benign Het
Mtus2 G A 5: 148,043,913 (GRCm39) A834T probably damaging Het
Nalf1 T C 8: 9,282,975 (GRCm39) D358G probably damaging Het
Ncoa6 A G 2: 155,257,788 (GRCm39) M585T possibly damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Npvf A C 6: 50,627,878 (GRCm39) D180E possibly damaging Het
Nup188 A T 2: 30,194,346 (GRCm39) Y173F possibly damaging Het
Oas3 C A 5: 120,897,018 (GRCm39) A868S probably damaging Het
Pkhd1l1 A G 15: 44,381,531 (GRCm39) T1086A probably damaging Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Rara T C 11: 98,862,490 (GRCm39) M297T possibly damaging Het
Tmc1 T C 19: 20,782,017 (GRCm39) E567G probably damaging Het
Tnxb C T 17: 34,914,921 (GRCm39) Q1970* probably null Het
Utrn A G 10: 12,282,173 (GRCm39) probably benign Het
Zfhx3 A G 8: 109,521,359 (GRCm39) E827G probably damaging Het
Other mutations in Usp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02037:Usp11 APN X 20,585,381 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02