Incidental Mutation 'R3853:Usp9x'
ID 276040
Institutional Source Beutler Lab
Gene Symbol Usp9x
Ensembl Gene ENSMUSG00000031010
Gene Name ubiquitin specific peptidase 9, X chromosome
Synonyms Dffrx, Fafl, 5730589N07Rik
MMRRC Submission 040900-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R3853 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 12937737-13039567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12964822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 77 (D77G)
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: D77G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000086716
Gene: ENSMUSG00000031010
AA Change: D77G

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
AA Change: D77G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000129373
Gene: ENSMUSG00000031010
AA Change: D77G

DomainStartEndE-ValueType
SCOP:d1qbkb_ 249 610 7e-4 SMART
Meta Mutation Damage Score 0.0829 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.4%
Validation Efficiency 96% (47/49)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,055,976 (GRCm39) H316L probably damaging Het
Cadps A G 14: 12,509,090 (GRCm38) probably benign Het
Cluh A G 11: 74,547,279 (GRCm39) D44G probably benign Het
Copb1 A G 7: 113,822,551 (GRCm39) V726A probably damaging Het
Dsg4 T C 18: 20,582,291 (GRCm39) V79A probably benign Het
Exo1 A T 1: 175,720,554 (GRCm39) I291F probably benign Het
Eya4 C T 10: 22,992,574 (GRCm39) A460T probably damaging Het
Gjd3 G T 11: 102,690,952 (GRCm39) D350E probably benign Het
Hcar2 T C 5: 124,002,475 (GRCm39) M343V probably benign Het
Ifna15 T C 4: 88,476,046 (GRCm39) Y146C probably damaging Het
Lce3e C T 3: 92,875,139 (GRCm39) Q32* probably null Het
Llgl1 T C 11: 60,598,075 (GRCm39) L373P probably damaging Het
Mark2 A G 19: 7,254,655 (GRCm39) C642R probably damaging Het
Mbd3l2 A G 9: 18,356,092 (GRCm39) Q139R probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Nynrin T A 14: 56,101,562 (GRCm39) N410K probably benign Het
Or10g7 A T 9: 39,905,450 (GRCm39) T115S probably damaging Het
Or4a71 A T 2: 89,357,917 (GRCm39) M279K possibly damaging Het
Or5b112 A G 19: 13,319,862 (GRCm39) T247A possibly damaging Het
Or7a38 T A 10: 78,752,781 (GRCm39) Y36N probably damaging Het
Or8b1 G T 9: 38,400,247 (GRCm39) R307S probably benign Het
Padi3 T C 4: 140,518,580 (GRCm39) probably benign Het
Prkce A G 17: 86,476,277 (GRCm39) D86G probably damaging Het
Pwwp3b C T X: 138,137,403 (GRCm39) probably null Het
Rad21 T G 15: 51,835,712 (GRCm39) I234L probably benign Het
Scn4a A T 11: 106,210,932 (GRCm39) M1695K possibly damaging Het
Sdccag8 T C 1: 176,681,361 (GRCm39) S325P probably damaging Het
Sebox G A 11: 78,394,975 (GRCm39) G106R probably benign Het
Serpinb9 A G 13: 33,199,503 (GRCm39) E266G possibly damaging Het
Shoc1 T C 4: 59,047,390 (GRCm39) N1410D possibly damaging Het
Snx14 T C 9: 88,289,372 (GRCm39) probably benign Het
Tmc6 A T 11: 117,663,884 (GRCm39) L474* probably null Het
Tmem132c T C 5: 127,436,933 (GRCm39) Y141H probably benign Het
Trap1 G A 16: 3,872,686 (GRCm39) R328C possibly damaging Het
Trim36 C A 18: 46,305,439 (GRCm39) probably benign Het
Trmt2a A T 16: 18,069,055 (GRCm39) Y299F possibly damaging Het
Trrap A G 5: 144,728,975 (GRCm39) K630E probably damaging Het
Tsnaxip1 A T 8: 106,567,333 (GRCm39) probably benign Het
Ttc6 G T 12: 57,775,335 (GRCm39) C1677F possibly damaging Het
Ugt2a3 A T 5: 87,485,018 (GRCm39) V2D Het
Wfs1 C A 5: 37,125,968 (GRCm39) V308L probably benign Het
Zan A C 5: 137,472,326 (GRCm39) L140R probably damaging Het
Zc3h3 A T 15: 75,709,346 (GRCm39) S508T probably benign Het
Zswim3 A G 2: 164,662,777 (GRCm39) Y419C 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
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
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
Predicted Primers PCR Primer
(F):5'- GTTAGTCTGTCTTGGAAATTCAGC -3'
(R):5'- GCCATAAGAGCATGTTCTTGC -3'

Sequencing Primer
(F):5'- TCAGCATAAATTTTGGAAGGAGAAC -3'
(R):5'- GCTCCTTTTTATTAGACCCATCATG -3'
Posted On 2015-04-06