Incidental Mutation 'IGL00541:Usp9x'
ID 3143
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: 0.946) question?
Stock # IGL00541
Quality Score
Status
Chromosome X
Chromosomal Location 12937737-13039567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13007985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1425 (T1425A)
Ref Sequence ENSEMBL: ENSMUSP00000086716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089302]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000089302
AA Change: T1425A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086716
Gene: ENSMUSG00000031010
AA Change: T1425A

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
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp2k G A 5: 97,211,407 (GRCm39) probably null Het
Col6a3 T C 1: 90,729,864 (GRCm39) H1207R possibly damaging Het
Efl1 T C 7: 82,307,319 (GRCm39) S72P probably damaging Het
Fbxw9 A T 8: 85,793,219 (GRCm39) I435F probably damaging Het
Gm9837 G A 11: 53,361,079 (GRCm39) probably benign Het
Lama2 C A 10: 27,064,302 (GRCm39) L1226F probably benign Het
Nbea G A 3: 55,875,510 (GRCm39) P1720L probably benign Het
Pira12 T A 7: 3,900,385 (GRCm39) probably benign Het
Slco1a6 G T 6: 142,042,025 (GRCm39) T517K possibly damaging Het
Sult2a2 T C 7: 13,468,684 (GRCm39) L50P probably damaging Het
Syt9 A T 7: 107,101,387 (GRCm39) N378Y probably null Het
Tchh A G 3: 93,353,557 (GRCm39) E999G unknown Het
Other mutations in Usp9x
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20