Incidental Mutation 'R3607:Usp11'
ID 269145
Institutional Source Beutler Lab
Gene Symbol Usp11
Ensembl Gene ENSMUSG00000031066
Gene Name ubiquitin specific peptidase 11
Synonyms 6230415D12Rik
MMRRC Submission 040671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3607 (G1)
Quality Score 225
Status Validated
Chromosome X
Chromosomal Location 20570148-20586778 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 20580871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 426 (F426L)
Ref Sequence ENSEMBL: ENSMUSP00000033383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033383]
AlphaFold Q99K46
Predicted Effect probably damaging
Transcript: ENSMUST00000033383
AA Change: F426L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033383
Gene: ENSMUSG00000031066
AA Change: F426L

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 98% (48/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930510E17Rik C A 9: 53,191,083 (GRCm39) noncoding transcript Het
Adnp2 A T 18: 80,172,284 (GRCm39) N708K probably damaging Het
Arhgef17 C A 7: 100,580,379 (GRCm39) G190W probably damaging Het
Aspm T A 1: 139,408,406 (GRCm39) M2431K probably benign Het
Aurkc A G 7: 7,005,859 (GRCm39) Y157C probably damaging Het
Bpifb1 T A 2: 154,053,485 (GRCm39) N242K possibly damaging Het
Cracr2b C T 7: 141,046,059 (GRCm39) P370S possibly damaging Het
Etv1 A G 12: 38,881,085 (GRCm39) Y66C probably damaging Het
F830016B08Rik A T 18: 60,433,780 (GRCm39) K288* probably null Het
Fam131a C T 16: 20,520,345 (GRCm39) P181L probably damaging Het
Fat2 T A 11: 55,172,511 (GRCm39) E2734V probably damaging Het
Fgfrl1 C A 5: 108,853,289 (GRCm39) T213K probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gmfg T A 7: 28,140,961 (GRCm39) probably null Het
Gtpbp8 T C 16: 44,564,119 (GRCm39) Y184C probably damaging Het
Heatr5b T C 17: 79,141,646 (GRCm39) E2G probably damaging Het
Itpr2 T G 6: 146,129,099 (GRCm39) T2005P probably damaging Het
Kmt2a G A 9: 44,760,493 (GRCm39) T485M probably damaging Het
Kng1 T C 16: 22,886,552 (GRCm39) F112L probably damaging Het
Kprp C A 3: 92,731,588 (GRCm39) Q487H unknown Het
Lctl T C 9: 64,040,475 (GRCm39) Y473H probably damaging Het
Lpin2 T A 17: 71,536,387 (GRCm39) D225E probably damaging Het
Myom2 T C 8: 15,119,775 (GRCm39) V177A probably damaging Het
Nkrf T G X: 36,153,730 (GRCm39) N184T probably benign Het
Nt5c1b A G 12: 10,427,236 (GRCm39) N329D probably damaging Het
Ogdhl T A 14: 32,057,318 (GRCm39) V308E probably damaging Het
Or14a258 A G 7: 86,034,903 (GRCm39) C322R probably benign Het
Pcnx1 T A 12: 81,975,066 (GRCm39) F791I probably damaging Het
Prkg2 G T 5: 99,095,236 (GRCm39) T616K probably damaging Het
Psmd3 C T 11: 98,581,780 (GRCm39) R302W probably damaging Het
Ptpn1 A G 2: 167,817,427 (GRCm39) S355G probably benign Het
Pxdn A G 12: 30,040,917 (GRCm39) N398D probably benign Het
Ranbp10 A G 8: 106,502,667 (GRCm39) S300P probably benign Het
Rbl1 A T 2: 157,019,153 (GRCm39) F531I probably damaging Het
Rgl3 A G 9: 21,898,987 (GRCm39) S151P probably damaging Het
Rnf213 C A 11: 119,332,802 (GRCm39) C2670* probably null Het
Tex16 T A X: 111,003,667 (GRCm39) S159T probably damaging Het
Tnfaip3 A G 10: 18,881,350 (GRCm39) I312T probably damaging Het
Traf2 T C 2: 25,420,427 (GRCm39) T141A probably benign Het
Trpm7 T C 2: 126,638,348 (GRCm39) probably benign Het
Vcan G T 13: 89,851,420 (GRCm39) T1180K probably damaging Het
Wasf1 G C 10: 40,812,380 (GRCm39) A390P unknown Het
Yif1b C T 7: 28,937,835 (GRCm39) A7V 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
R2926:Usp11 UTSW X 20,584,031 (GRCm39) missense probably damaging 0.99
X0028:Usp11 UTSW X 20,578,329 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACTAGGCTTCAACAGTGTCC -3'
(R):5'- TCGTAGGTTAATGTAGAAAAGCGTG -3'

Sequencing Primer
(F):5'- AGGCTTCAACAGTGTCCTTTAC -3'
(R):5'- CGTGAGGGAAGTAATCAAAGGCTG -3'
Posted On 2015-02-19