Incidental Mutation 'IGL02433:Usp17le'
ID293177
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp17le
Ensembl Gene ENSMUSG00000043073
Gene Nameubiquitin specific peptidase 17-like E
SynonymsGm6596, Dub3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL02433
Quality Score
Status
Chromosome7
Chromosomal Location104768049-104777470 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104769201 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 245 (W245R)
Ref Sequence ENSEMBL: ENSMUSP00000147776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053464] [ENSMUST00000211384]
Predicted Effect probably benign
Transcript: ENSMUST00000053464
AA Change: W245R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000051716
Gene: ENSMUSG00000043073
AA Change: W245R

DomainStartEndE-ValueType
Pfam:UCH 84 379 9e-54 PFAM
Pfam:UCH_1 85 362 2.3e-21 PFAM
low complexity region 408 417 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211384
AA Change: W245R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bche T C 3: 73,701,929 T55A probably benign Het
Ccdc177 T C 12: 80,757,598 D634G unknown Het
Cnot2 T C 10: 116,492,336 T498A possibly damaging Het
Dock10 C T 1: 80,530,188 V1669M probably damaging Het
Emilin2 T C 17: 71,274,129 E534G probably benign Het
Flt4 G A 11: 49,630,573 R440H probably benign Het
Gm10073 T C 8: 106,573,319 Y11C probably benign Het
Gm13088 C T 4: 143,655,437 G230S possibly damaging Het
Ighv10-3 T A 12: 114,523,894 probably benign Het
Krt31 T C 11: 100,048,395 Y232C probably damaging Het
Muc19 G A 15: 91,872,496 noncoding transcript Het
Myof A G 19: 37,972,193 S467P probably benign Het
Nup88 C T 11: 70,969,888 V22I probably benign Het
Olfr1099 A G 2: 86,959,048 S137P possibly damaging Het
Olfr1306 G T 2: 111,912,417 P171Q probably damaging Het
Olfr804 A T 10: 129,705,576 T233S probably benign Het
Prag1 C T 8: 36,139,568 P821L probably damaging Het
Tap2 G A 17: 34,205,419 probably benign Het
Tmem68 A T 4: 3,569,624 I22N possibly damaging Het
Xpo5 G T 17: 46,239,520 C976F probably damaging Het
Xrcc1 T C 7: 24,565,554 S94P possibly damaging Het
Zfp524 T A 7: 5,018,092 N206K possibly damaging Het
Other mutations in Usp17le
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Usp17le APN 7 104768787 missense probably benign 0.00
IGL01974:Usp17le APN 7 104768435 missense probably benign
IGL02364:Usp17le APN 7 104768775 nonsense probably null
IGL02413:Usp17le APN 7 104769726 missense probably benign 0.39
IGL02960:Usp17le APN 7 104768740 missense probably benign
IGL02984:Usp17le UTSW 7 104769104 missense probably benign 0.21
R0035:Usp17le UTSW 7 104769062 nonsense probably null
R0389:Usp17le UTSW 7 104768460 missense probably damaging 0.96
R0499:Usp17le UTSW 7 104768501 missense probably benign 0.02
R0567:Usp17le UTSW 7 104768898 missense possibly damaging 0.95
R0879:Usp17le UTSW 7 104769647 missense probably damaging 0.99
R0879:Usp17le UTSW 7 104769648 missense possibly damaging 0.46
R4840:Usp17le UTSW 7 104769770 missense probably benign 0.34
R5140:Usp17le UTSW 7 104769438 missense probably damaging 1.00
R5403:Usp17le UTSW 7 104769234 missense probably damaging 1.00
R6210:Usp17le UTSW 7 104769143 missense probably damaging 1.00
R7047:Usp17le UTSW 7 104768433 missense probably benign 0.02
R7157:Usp17le UTSW 7 104768489 missense probably benign 0.03
R7361:Usp17le UTSW 7 104768877 missense probably damaging 1.00
R7386:Usp17le UTSW 7 104768307 splice site probably null
R7997:Usp17le UTSW 7 104768839 missense possibly damaging 0.94
R8189:Usp17le UTSW 7 104769348 missense probably damaging 0.99
R8248:Usp17le UTSW 7 104769794 missense possibly damaging 0.92
Posted On2015-04-16