Incidental Mutation 'R2926:Usp11'
ID 255786
Institutional Source Beutler Lab
Gene Symbol Usp11
Ensembl Gene ENSMUSG00000031066
Gene Name ubiquitin specific peptidase 11
Synonyms 6230415D12Rik
MMRRC Submission 040511-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2926 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 20570148-20586778 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 20584031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 601 (G601W)
Ref Sequence ENSEMBL: ENSMUSP00000033383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033383]
AlphaFold Q99K46
Predicted Effect probably damaging
Transcript: ENSMUST00000033383
AA Change: G601W

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033383
Gene: ENSMUSG00000031066
AA Change: G601W

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
Meta Mutation Damage Score 0.3093 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G T 5: 124,216,902 (GRCm39) S438R possibly damaging Het
Add3 A G 19: 53,215,253 (GRCm39) probably null Het
Adgrb2 T C 4: 129,902,137 (GRCm39) L506P probably damaging Het
Atp6v0a1 A T 11: 100,934,774 (GRCm39) I621L probably damaging Het
Calb1 T G 4: 15,904,302 (GRCm39) L218R probably damaging Het
Ccdc162 G A 10: 41,437,203 (GRCm39) probably benign Het
Ccser2 A T 14: 36,601,518 (GRCm39) S842T possibly damaging Het
Cd300a A G 11: 114,784,139 (GRCm39) E49G possibly damaging Het
Colec11 T A 12: 28,667,428 (GRCm39) Q37L probably damaging Het
D630045J12Rik T A 6: 38,145,106 (GRCm39) I1307F probably damaging Het
Dapk1 T C 13: 60,867,564 (GRCm39) V257A possibly damaging Het
Dnah3 T A 7: 119,550,338 (GRCm39) N3327I probably damaging Het
Gja8 C T 3: 96,826,469 (GRCm39) V398I probably benign Het
Hfm1 A T 5: 107,022,148 (GRCm39) L179* probably null Het
Hsd3b9 A G 3: 98,357,872 (GRCm39) probably benign Het
Ift88 T C 14: 57,726,375 (GRCm39) Y678H probably damaging Het
Itga10 A G 3: 96,560,165 (GRCm39) N560D probably damaging Het
Itpk1 G T 12: 102,545,389 (GRCm39) P238Q probably damaging Het
Kl T C 5: 150,876,806 (GRCm39) W209R probably damaging Het
Lama4 A G 10: 38,954,828 (GRCm39) N1127S probably benign Het
Lrp1 C T 10: 127,423,982 (GRCm39) C830Y probably damaging Het
Mcmbp G A 7: 128,299,738 (GRCm39) probably benign Het
Mrps33 A G 6: 39,782,438 (GRCm39) S28P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Myt1 C T 2: 181,467,803 (GRCm39) T1079M possibly damaging Het
N4bp1 A T 8: 87,588,424 (GRCm39) Y171* probably null Het
Ncln G T 10: 81,324,272 (GRCm39) T442K probably benign Het
Nphp4 T C 4: 152,602,596 (GRCm39) V390A probably damaging Het
Ntrk2 C A 13: 59,208,098 (GRCm39) T648K probably damaging Het
Nwd1 A G 8: 73,393,640 (GRCm39) H301R probably damaging Het
Or4k5 A T 14: 50,385,893 (GRCm39) V146E probably benign Het
Pcdh12 T C 18: 38,415,443 (GRCm39) N561D probably damaging Het
Pcnx1 T A 12: 82,041,769 (GRCm39) S2134T probably damaging Het
Ppp1cc G A 5: 122,312,151 (GRCm39) A306T probably benign Het
Pramel3e G T X: 134,400,297 (GRCm39) A96S possibly damaging Het
Prrc2c C T 1: 162,533,696 (GRCm39) probably benign Het
Rabggta C T 14: 55,956,747 (GRCm39) R319H probably benign Het
Scn10a A C 9: 119,467,767 (GRCm39) F791C possibly damaging Het
Stab1 T A 14: 30,883,756 (GRCm39) D267V probably damaging Het
Sva A T 6: 42,019,596 (GRCm39) Y152F possibly damaging Het
Tgfbrap1 T G 1: 43,114,789 (GRCm39) M104L probably damaging Het
Tmed4 T C 11: 6,221,728 (GRCm39) T203A probably benign Het
Toe1 C T 4: 116,662,177 (GRCm39) A331T possibly damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm7 T C 2: 126,700,329 (GRCm39) probably benign Het
Ttll7 C T 3: 146,636,170 (GRCm39) R438* probably null Het
Vmn2r112 A G 17: 22,833,984 (GRCm39) T551A possibly damaging Het
Vmn2r73 T C 7: 85,520,871 (GRCm39) K366E probably benign Het
Vps33a A G 5: 123,707,634 (GRCm39) I111T possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTCGGAGATGAAGCATTCAC -3'
(R):5'- ACAGTGGGCGCAGACATTTC -3'

Sequencing Primer
(F):5'- GCTCGGAGATGAAGCATTCACATAAC -3'
(R):5'- TCAAGGATCAAAATGTGGGTACTCC -3'
Posted On 2014-12-29