Incidental Mutation 'R4483:Usp9x'
ID 331515
Institutional Source Beutler Lab
Gene Symbol Usp9x
Ensembl Gene ENSMUSG00000031010
Gene Name ubiquitin specific peptidase 9, X chromosome
Synonyms Dffrx, Fafl, 5730589N07Rik
MMRRC Submission 041739-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R4483 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 13071498-13173328 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13121448 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 638 (D638G)
Ref Sequence ENSEMBL: ENSMUSP00000129373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089302] [ENSMUST00000169594]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000089302
AA Change: D638G

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000086716
Gene: ENSMUSG00000031010
AA Change: D638G

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 unknown
Transcript: ENSMUST00000149021
AA Change: D128G
SMART Domains Protein: ENSMUSP00000133948
Gene: ENSMUSG00000031010
AA Change: D128G

low complexity region 74 84 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169594
AA Change: D638G

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129373
Gene: ENSMUSG00000031010
AA Change: D638G

SCOP:d1qbkb_ 249 610 7e-4 SMART
Meta Mutation Damage Score 0.4391 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (36/37)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,419,230 G5275S probably benign Het
Akap11 A G 14: 78,510,259 S1563P probably damaging Het
Ankrd50 A G 3: 38,457,531 V229A probably damaging Het
AW112010 A G 19: 11,050,393 noncoding transcript Het
Ccdc158 A G 5: 92,633,328 S873P probably benign Het
Cep350 A G 1: 155,926,468 V1104A probably benign Het
Chil4 G A 3: 106,214,362 A57V probably damaging Het
Cpa5 A G 6: 30,624,626 E155G probably damaging Het
Ctsq T C 13: 61,038,912 I93V probably benign Het
Dbi A T 1: 120,120,805 I37K probably benign Het
Defa35 T C 8: 21,065,192 S43P probably damaging Het
Fance T A 17: 28,315,807 probably benign Het
Fbxl6 A G 15: 76,537,929 L180P probably damaging Het
Fkbpl T C 17: 34,646,295 F346L probably damaging Het
Gm11735 C A 11: 116,741,275 noncoding transcript Het
Gm28042 T C 2: 120,035,840 I373T possibly damaging Het
Golga4 T C 9: 118,514,186 S27P probably damaging Het
Gstm1 C T 3: 108,016,518 probably null Het
Lama3 T A 18: 12,549,253 I1092K probably benign Het
Med15 A T 16: 17,671,564 probably benign Het
Nlrp6 A G 7: 140,921,781 D87G probably damaging Het
Parp11 A G 6: 127,471,605 T62A probably benign Het
Pcnt A G 10: 76,401,483 L1323S probably damaging Het
Ppp2r1a C T 17: 20,955,810 T98I probably benign Het
Pramef6 T A 4: 143,895,840 Y315F probably damaging Het
Prl7a2 T A 13: 27,660,947 H152L possibly damaging Het
Rnf145 T C 11: 44,564,277 S662P probably benign Het
Rpl31-ps17 C T 12: 54,701,612 noncoding transcript Het
Tnfaip3 A T 10: 19,011,627 M50K probably damaging Het
Txlnb T TTA 10: 17,838,997 probably null Het
Vmn1r30 A T 6: 58,435,133 V238E probably damaging Het
Zfp507 A G 7: 35,787,716 probably null Het
Zfp532 G T 18: 65,656,565 W1025L probably benign Het
Other mutations in Usp9x
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00541:Usp9x APN X 13141746 missense probably benign
IGL00572:Usp9x APN X 13125576 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-21