Incidental Mutation 'IGL00572:Usp9x'
ID332665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp9x
Ensembl Gene ENSMUSG00000031010
Gene Nameubiquitin specific peptidase 9, X chromosome
SynonymsDffrx, Fafl, 5730589N07Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.939) question?
Stock #IGL00572
Quality Score
Status
ChromosomeX
Chromosomal Location13071498-13173328 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 13125576 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 869 (H869N)
Ref Sequence ENSEMBL: ENSMUSP00000086716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089302] [ENSMUST00000169594]
Predicted Effect probably benign
Transcript: ENSMUST00000089302
AA Change: H869N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086716
Gene: ENSMUSG00000031010
AA Change: H869N

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 noncoding transcript
Transcript: ENSMUST00000139764
Predicted Effect probably benign
Transcript: ENSMUST00000149021
SMART Domains Protein: ENSMUSP00000133948
Gene: ENSMUSG00000031010

DomainStartEndE-ValueType
low complexity region 74 84 N/A INTRINSIC
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A G 17: 55,820,648 I563V probably benign Het
Adgrl2 A G 3: 148,826,498 L1033P probably damaging Het
Aqr A C 2: 114,125,942 I840M possibly damaging Het
Bmper G A 9: 23,406,527 V481M probably damaging Het
Chd8 T C 14: 52,226,138 E683G probably damaging Het
Cpn1 A G 19: 43,963,829 V338A probably damaging Het
Cs A G 10: 128,360,964 probably benign Het
Gm4540 C T 3: 106,034,807 probably benign Het
Gm884 A G 11: 103,615,410 F1911L probably benign Het
Hdc A G 2: 126,601,872 F296L probably benign Het
Helt T C 8: 46,293,522 E32G probably damaging Het
Hivep1 C T 13: 42,158,871 A1529V probably benign Het
Klk1b4 A T 7: 44,210,774 H104L possibly damaging Het
Ncf2 C A 1: 152,808,174 T48N possibly damaging Het
Phkg1 G A 5: 129,865,073 Q274* probably null Het
Slc1a2 A G 2: 102,777,576 D520G possibly damaging Het
Slc25a10 G T 11: 120,497,107 probably null Het
Slc8a1 A T 17: 81,388,726 S960T probably damaging Het
Sp140 G A 1: 85,621,672 R208K probably benign Het
St7 A G 6: 17,855,006 E245G probably damaging Het
Sypl T A 12: 32,954,294 S2T probably damaging Het
Tbx20 T C 9: 24,725,688 T368A probably benign Het
Tmem126a T C 7: 90,450,832 T168A probably benign Het
Ttn A G 2: 76,946,979 S1360P probably damaging Het
Ttn T C 2: 76,746,590 D24653G probably damaging Het
Uggt2 A T 14: 119,042,791 F282L probably benign Het
Usp36 A T 11: 118,264,820 N875K possibly damaging Het
Xpnpep1 T C 19: 53,010,148 E223G probably benign Het
Zfp729a G A 13: 67,619,321 P930S probably benign Het
Zscan10 G A 17: 23,609,461 V216M probably damaging Het
Other mutations in Usp9x
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00541:Usp9x APN X 13141746 missense probably benign
IGL00844:Usp9x APN X 13128446 missense probably benign 0.01
IGL01104:Usp9x APN X 13160903 missense probably damaging 1.00
IGL01139:Usp9x APN X 13104576 splice site probably benign
IGL01413:Usp9x APN X 13151340 missense probably benign 0.26
R3545:Usp9x UTSW X 13128390 missense probably benign 0.00
R3547:Usp9x UTSW X 13128390 missense probably benign 0.00
R3853:Usp9x UTSW X 13098583 missense probably benign 0.01
R4483:Usp9x UTSW X 13121448 missense possibly damaging 0.95
R4660:Usp9x UTSW X 13123508 missense possibly damaging 0.83
R4661:Usp9x UTSW X 13123508 missense possibly damaging 0.83
R4662:Usp9x UTSW X 13123508 missense possibly damaging 0.83
Posted On2015-08-05