Incidental Mutation 'IGL00844:Usp9x'
ID 14749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp9x
Ensembl Gene ENSMUSG00000031010
Gene Name ubiquitin specific peptidase 9, X chromosome
Synonyms Dffrx, Fafl, 5730589N07Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # IGL00844
Quality Score
Status
Chromosome X
Chromosomal Location 12937737-13039567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 12994685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 959 (S959A)
Ref Sequence ENSEMBL: ENSMUSP00000086716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089302] [ENSMUST00000169594]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000089302
AA Change: S959A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000086716
Gene: ENSMUSG00000031010
AA Change: S959A

DomainStartEndE-ValueType
SCOP:d1qbkb_ 249 610 1e-4 SMART
Blast:ANK 872 901 1e-6 BLAST
low complexity region 969 989 N/A INTRINSIC
low complexity region 1067 1084 N/A INTRINSIC
low complexity region 1147 1162 N/A INTRINSIC
low complexity region 1350 1361 N/A INTRINSIC
Pfam:UCH 1556 1953 8.3e-56 PFAM
Pfam:UCH_1 1557 1907 5e-24 PFAM
low complexity region 2333 2345 N/A INTRINSIC
low complexity region 2475 2487 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124097
Predicted Effect probably benign
Transcript: ENSMUST00000169594
SMART Domains Protein: ENSMUSP00000129373
Gene: ENSMUSG00000031010

DomainStartEndE-ValueType
SCOP:d1qbkb_ 249 610 7e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174762
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: In a conditional model of pancreatic ductal carcinoma, hemizygous males and heterozygous females with a conditional allele exhibit accelerated tumorigenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,384,956 (GRCm39) C336* probably null Het
Adgrv1 T C 13: 81,688,238 (GRCm39) D994G probably damaging Het
Arhgap36 G T X: 48,586,631 (GRCm39) Q421H probably damaging Het
Arhgef17 A G 7: 100,578,656 (GRCm39) V764A probably benign Het
Atf7ip T C 6: 136,537,679 (GRCm39) V304A probably benign Het
Babam2 T A 5: 32,164,651 (GRCm39) F299L probably damaging Het
Ceacam11 T G 7: 17,707,595 (GRCm39) D126E possibly damaging Het
Dlg3 C A X: 99,850,199 (GRCm39) H197Q probably damaging Het
Dnmt3a T A 12: 3,955,622 (GRCm39) L590Q probably damaging Het
Fras1 A G 5: 96,682,712 (GRCm39) probably benign Het
Gabarapl1 T C 6: 129,515,598 (GRCm39) F79L probably benign Het
Gabbr2 A G 4: 46,875,711 (GRCm39) V137A probably damaging Het
Gphn T C 12: 78,711,342 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,066,516 (GRCm39) I399M probably benign Het
Madd A C 2: 90,998,213 (GRCm39) S636A probably damaging Het
Pi15 T C 1: 17,691,764 (GRCm39) probably benign Het
Ppp3cb A T 14: 20,581,754 (GRCm39) M87K possibly damaging Het
Ptpro C A 6: 137,391,237 (GRCm39) H786N probably damaging Het
Rnase11 T C 14: 51,287,213 (GRCm39) I114V possibly damaging Het
Sirt4 A G 5: 115,617,685 (GRCm39) probably null Het
Stab1 T C 14: 30,869,023 (GRCm39) D1534G probably damaging Het
Sulf2 A G 2: 165,936,412 (GRCm39) S185P possibly damaging Het
Svs6 A C 2: 164,159,507 (GRCm39) K90T possibly damaging Het
Tdrd6 A G 17: 43,928,087 (GRCm39) M2102T probably benign Het
Ttll5 T C 12: 85,890,600 (GRCm39) V77A probably damaging Het
Vps50 C T 6: 3,532,177 (GRCm39) Q227* probably null Het
Zfp57 C A 17: 37,320,514 (GRCm39) Q120K possibly damaging Het
Zswim2 T C 2: 83,754,115 (GRCm39) N182D probably benign Het
Other mutations in Usp9x
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00541:Usp9x APN X 13,007,985 (GRCm39) missense probably benign
IGL00572:Usp9x APN X 12,991,815 (GRCm39) missense probably benign
IGL01104:Usp9x APN X 13,027,142 (GRCm39) missense probably damaging 1.00
IGL01139:Usp9x APN X 12,970,815 (GRCm39) splice site probably benign
IGL01413:Usp9x APN X 13,017,579 (GRCm39) missense probably benign 0.26
R3545:Usp9x UTSW X 12,994,629 (GRCm39) missense probably benign 0.00
R3547:Usp9x UTSW X 12,994,629 (GRCm39) missense probably benign 0.00
R3853:Usp9x UTSW X 12,964,822 (GRCm39) missense probably benign 0.01
R4483:Usp9x UTSW X 12,987,687 (GRCm39) missense possibly damaging 0.95
R4660:Usp9x UTSW X 12,989,747 (GRCm39) missense possibly damaging 0.83
R4661:Usp9x UTSW X 12,989,747 (GRCm39) missense possibly damaging 0.83
R4662:Usp9x UTSW X 12,989,747 (GRCm39) missense possibly damaging 0.83
Posted On 2012-12-06