Incidental Mutation 'IGL02413:Usp17le'
ID292334
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: 0.064) question?
Stock #IGL02413
Quality Score
Status
Chromosome7
Chromosomal Location104768049-104777470 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104769726 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 70 (N70D)
Ref Sequence ENSEMBL: ENSMUSP00000147776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053464] [ENSMUST00000211384]
Predicted Effect probably benign
Transcript: ENSMUST00000053464
AA Change: N70D

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000051716
Gene: ENSMUSG00000043073
AA Change: N70D

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: N70D

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,422,437 probably benign Het
Afap1l1 A G 18: 61,733,789 L733P probably benign Het
Aqr G A 2: 114,118,780 A979V possibly damaging Het
Axin1 A G 17: 26,188,179 E582G probably benign Het
Catsper1 T C 19: 5,336,236 S166P possibly damaging Het
Cd248 G T 19: 5,070,173 G683V probably damaging Het
Celsr1 G T 15: 86,031,226 Q849K possibly damaging Het
Ctnnal1 C A 4: 56,835,306 V324F probably benign Het
Ctrc C A 4: 141,843,717 V71L possibly damaging Het
Exoc3l C A 8: 105,292,438 D465Y probably damaging Het
Fam205c T C 4: 42,868,549 D358G probably damaging Het
Flna T C X: 74,241,282 E417G probably benign Het
Grm6 T A 11: 50,859,939 V643D probably damaging Het
Inpp4b A G 8: 82,033,171 Y615C probably benign Het
Itga3 T C 11: 95,068,771 Y92C probably damaging Het
Jak3 T C 8: 71,686,119 probably null Het
Kcnh6 T A 11: 106,027,634 I823N possibly damaging Het
Klhl38 A T 15: 58,323,021 V104D probably damaging Het
Lpo C T 11: 87,806,906 V692M possibly damaging Het
Mnd1 T C 3: 84,116,479 H100R probably benign Het
Mterf4 A G 1: 93,302,804 F207L probably damaging Het
Olfr1395 T C 11: 49,148,557 L100P probably damaging Het
Oog3 C A 4: 144,158,151 W405L probably benign Het
Ptpn3 A G 4: 57,205,020 Y714H probably damaging Het
Steap3 T C 1: 120,241,772 Y265C probably damaging Het
Tcl1 C A 12: 105,218,823 E43* probably null Het
Terb1 A G 8: 104,494,868 probably null Het
Tmprss11a T A 5: 86,422,648 I151F possibly damaging Het
Trappc10 T C 10: 78,210,776 R430G probably damaging Het
Vmn1r45 T C 6: 89,933,521 S36G possibly damaging Het
Vsig8 A C 1: 172,560,376 Y11S probably damaging Het
Vwa5b2 T A 16: 20,598,101 L516Q probably 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
IGL02433:Usp17le APN 7 104769201 missense probably benign 0.01
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