Incidental Mutation 'IGL01139:Usp9x'
ID 53360
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 # IGL01139
Quality Score
Status
Chromosome X
Chromosomal Location 12937737-13039567 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 12970815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089302] [ENSMUST00000169594]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000089302
SMART Domains Protein: ENSMUSP00000086716
Gene: ENSMUSG00000031010

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: ENSMUST00000139764
Predicted Effect probably benign
Transcript: ENSMUST00000169594
SMART Domains Protein: ENSMUSP00000129373
Gene: ENSMUSG00000031010

DomainStartEndE-ValueType
SCOP:d1qbkb_ 249 610 7e-4 SMART
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,504,259 (GRCm39) Y297* probably null Het
Actr3 A T 1: 125,333,622 (GRCm39) I215N probably damaging Het
Ambn C T 5: 88,612,376 (GRCm39) probably benign Het
Arhgef1 T A 7: 24,625,376 (GRCm39) probably benign Het
Arid1a A C 4: 133,421,308 (GRCm39) S832R unknown Het
Clca4a A T 3: 144,672,030 (GRCm39) I304N probably damaging Het
Dmxl2 G A 9: 54,366,248 (GRCm39) P274S probably damaging Het
Eif4enif1 T A 11: 3,171,143 (GRCm39) D211E probably damaging Het
Eri2 A G 7: 119,385,960 (GRCm39) probably null Het
Fhod3 C T 18: 25,199,401 (GRCm39) P691S probably benign Het
Flnb A G 14: 7,945,989 (GRCm38) S2465G probably damaging Het
Ftsj1 G A X: 8,112,831 (GRCm39) R171C probably damaging Het
Glb1l3 G A 9: 26,729,523 (GRCm39) T648I probably benign Het
Gm4222 T A 2: 89,978,889 (GRCm39) probably benign Het
Gm5475 G A 15: 100,322,096 (GRCm39) probably benign Het
Jaml C A 9: 45,012,317 (GRCm39) T268N possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Lrba A G 3: 86,549,969 (GRCm39) T217A possibly damaging Het
Ltn1 A G 16: 87,212,897 (GRCm39) S555P probably benign Het
Map3k15 T A X: 158,855,875 (GRCm39) M350K probably damaging Het
Mipol1 C A 12: 57,352,821 (GRCm39) Y53* probably null Het
Mn1 A G 5: 111,569,315 (GRCm39) D1095G probably damaging Het
Myh14 T C 7: 44,255,716 (GRCm39) probably benign Het
Nrn1 A G 13: 36,914,190 (GRCm39) C31R probably damaging Het
Nup210 A T 6: 91,007,079 (GRCm39) L579H possibly damaging Het
Nxf2 T C X: 133,851,145 (GRCm39) I578V probably benign Het
Obscn G A 11: 58,969,178 (GRCm39) A172V probably damaging Het
Or10h1b T A 17: 33,395,756 (GRCm39) Y123N probably damaging Het
Or9g4 T G 2: 85,504,841 (GRCm39) Y218S probably damaging Het
Phtf1 A G 3: 103,912,918 (GRCm39) D748G probably damaging Het
Psd3 A T 8: 68,361,187 (GRCm39) Y863N probably damaging Het
Psmc6 C T 14: 45,581,167 (GRCm39) T321I probably benign Het
Rassf6 T C 5: 90,756,825 (GRCm39) *31W probably null Het
Rictor A C 15: 6,807,749 (GRCm39) K791Q probably damaging Het
Slc12a9 C T 5: 137,321,104 (GRCm39) M470I probably damaging Het
Tex28 A T X: 73,194,830 (GRCm39) M367K possibly damaging Het
Thnsl2 A T 6: 71,115,718 (GRCm39) V163D probably damaging Het
Tmco3 G A 8: 13,369,887 (GRCm39) R633Q possibly damaging Het
Trf A T 9: 103,100,803 (GRCm39) V224D probably damaging Het
Ttc8 C T 12: 98,930,804 (GRCm39) Q273* probably null Het
Vmn2r117 A G 17: 23,696,778 (GRCm39) W210R probably damaging Het
Vmn2r5 A G 3: 64,398,826 (GRCm39) S718P probably benign Het
Vps13a T C 19: 16,617,989 (GRCm39) D2932G probably damaging Het
Whamm T C 7: 81,245,662 (GRCm39) L706P probably damaging Het
Yeats2 G A 16: 20,033,143 (GRCm39) V45I probably damaging Het
Yipf3 G A 17: 46,561,383 (GRCm39) probably null Het
Zeb1 T C 18: 5,705,061 (GRCm39) V26A possibly damaging 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
IGL00844:Usp9x APN X 12,994,685 (GRCm39) missense probably benign 0.01
IGL01104:Usp9x APN X 13,027,142 (GRCm39) missense probably damaging 1.00
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 2013-06-21