Incidental Mutation 'IGL00705:Usp17ld'
ID10415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp17ld
Ensembl Gene ENSMUSG00000057321
Gene Nameubiquitin specific peptidase 17-like D
SynonymsDub2a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL00705
Quality Score
Status
Chromosome7
Chromosomal Location103249737-103252505 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 103250438 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 429 (T429I)
Ref Sequence ENSEMBL: ENSMUSP00000073107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073394]
Predicted Effect probably benign
Transcript: ENSMUST00000073394
AA Change: T429I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073107
Gene: ENSMUSG00000057321
AA Change: T429I

DomainStartEndE-ValueType
Pfam:UCH 50 345 2.4e-54 PFAM
Pfam:UCH_1 51 327 2e-25 PFAM
low complexity region 374 385 N/A INTRINSIC
low complexity region 529 542 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh8 T A 9: 3,359,588 H257Q probably damaging Het
Arap2 A T 5: 62,678,023 H725Q probably damaging Het
Asnsd1 A T 1: 53,348,451 C6S probably damaging Het
Bptf T C 11: 107,095,708 probably benign Het
Cep112 C A 11: 108,472,033 T193K probably benign Het
Fgfr3 A G 5: 33,735,140 I720V possibly damaging Het
Grid1 T A 14: 35,445,887 I456N possibly damaging Het
Limch1 A T 5: 66,993,153 R169* probably null Het
Mroh9 A G 1: 163,079,503 S17P probably damaging Het
Mtpap A C 18: 4,379,670 N87H probably damaging Het
Nudt17 A G 3: 96,707,200 probably null Het
Obox6 A T 7: 15,833,737 S262T probably damaging Het
Rb1cc1 T A 1: 6,244,133 M343K probably benign Het
Rufy3 A G 5: 88,621,350 I226V probably damaging Het
Tex15 C A 8: 33,581,592 P2389Q probably damaging Het
Urb2 T A 8: 124,036,637 V1266D probably benign Het
Zfp110 A G 7: 12,849,159 H578R probably benign Het
Zfp318 T A 17: 46,412,472 S1800R probably benign Het
Zfp638 A G 6: 83,977,130 T1406A probably damaging Het
Other mutations in Usp17ld
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01754:Usp17ld APN 7 103250663 missense probably benign
IGL02422:Usp17ld APN 7 103250760 missense probably damaging 1.00
R1701:Usp17ld UTSW 7 103250576 missense probably benign 0.00
R3113:Usp17ld UTSW 7 103250663 missense probably benign 0.01
R5057:Usp17ld UTSW 7 103250448 missense probably benign 0.07
R5161:Usp17ld UTSW 7 103250372 nonsense probably null
R5259:Usp17ld UTSW 7 103250574 nonsense probably null
R5656:Usp17ld UTSW 7 103250840 missense probably damaging 1.00
R6528:Usp17ld UTSW 7 103250755 missense probably damaging 1.00
R7573:Usp17ld UTSW 7 103250887 nonsense probably null
R7688:Usp17ld UTSW 7 103250775 missense probably damaging 1.00
R7711:Usp17ld UTSW 7 103250282 missense probably damaging 0.99
R7800:Usp17ld UTSW 7 103250834 missense probably damaging 1.00
Posted On2012-12-06