Incidental Mutation 'IGL02422:Usp17ld'
ID292701
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: 0.105) question?
Stock #IGL02422
Quality Score
Status
Chromosome7
Chromosomal Location103249737-103252505 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103250760 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 322 (M322L)
Ref Sequence ENSEMBL: ENSMUSP00000073107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073394]
Predicted Effect probably damaging
Transcript: ENSMUST00000073394
AA Change: M322L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073107
Gene: ENSMUSG00000057321
AA Change: M322L

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,047,047 noncoding transcript Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Aak1 A T 6: 86,982,616 T846S unknown Het
Adgrl1 A G 8: 83,937,486 D1149G probably damaging Het
AI661453 C T 17: 47,467,092 probably benign Het
Ap4b1 T C 3: 103,812,854 V139A possibly damaging Het
Arhgef16 G A 4: 154,287,065 R224* probably null Het
Ash1l T A 3: 89,069,079 probably null Het
Atm A T 9: 53,500,792 V988D probably damaging Het
C3 T C 17: 57,226,823 E47G probably damaging Het
Cdkn2aip G A 8: 47,711,499 S393L probably damaging Het
Cyp2c68 A C 19: 39,734,452 N217K probably damaging Het
Dapp1 A T 3: 137,961,499 S101T probably benign Het
Ddx25 T C 9: 35,551,364 I242V probably null Het
Dpy19l4 T C 4: 11,265,803 N715S possibly damaging Het
Dync1h1 A G 12: 110,640,210 E2511G possibly damaging Het
Fopnl T G 16: 14,300,206 D150A probably benign Het
Gm9839 T A 1: 32,519,862 probably benign Het
Grn A G 11: 102,436,258 probably benign Het
Haus5 T C 7: 30,660,146 T196A possibly damaging Het
Ik A G 18: 36,753,260 probably null Het
Inpp5d T G 1: 87,708,132 F473C probably damaging Het
Kif19a C A 11: 114,789,361 S841R probably damaging Het
Lipn G A 19: 34,068,663 C12Y probably benign Het
Ltbp4 G T 7: 27,319,672 P1074Q probably damaging Het
Mfap2 T C 4: 141,014,224 S65P probably benign Het
Mtbp T C 15: 55,563,043 F127S possibly damaging Het
Olfr1084 A G 2: 86,639,216 F164S probably damaging Het
Pappa2 T C 1: 158,936,933 D336G probably damaging Het
Plekhh2 A G 17: 84,563,809 probably benign Het
Plekhm3 A T 1: 64,921,866 C410* probably null Het
Ppm1f T A 16: 16,917,716 H265Q probably damaging Het
Pramef25 T A 4: 143,949,883 Y217F probably benign Het
Rasal3 T C 17: 32,398,973 T207A probably benign Het
Rnf17 T A 14: 56,482,135 N947K probably damaging Het
Rpl3l C A 17: 24,733,988 Y307* probably null Het
Sema4d A G 13: 51,703,088 S703P probably benign Het
Slc12a7 T C 13: 73,806,161 M857T probably benign Het
Slc34a3 T C 2: 25,232,263 D110G probably benign Het
Spata32 A T 11: 103,208,880 N266K probably benign Het
Spata9 A G 13: 75,993,074 I147V probably benign Het
Supt16 T C 14: 52,179,543 Y326C possibly damaging Het
Tpx2 T C 2: 152,873,144 I95T probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in Usp17ld
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00705:Usp17ld APN 7 103250438 missense probably benign 0.00
IGL01754:Usp17ld APN 7 103250663 missense probably benign
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
Posted On2015-04-16