Incidental Mutation 'R7688:Usp17ld'
ID593208
Institutional Source Beutler Lab
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: 0.066) question?
Stock #R7688 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location103249737-103252505 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 103250775 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 317 (G317W)
Ref Sequence ENSEMBL: ENSMUSP00000073107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073394]
Predicted Effect probably damaging
Transcript: ENSMUST00000073394
AA Change: G317W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073107
Gene: ENSMUSG00000057321
AA Change: G317W

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bag6 T C 17: 35,146,892 Y1102H probably damaging Het
Cldn24 G A 8: 47,822,705 C188Y probably damaging Het
Dennd4c T C 4: 86,795,140 W443R probably damaging Het
Dmxl1 T A 18: 49,955,871 C2806S probably benign Het
Epb41l2 T C 10: 25,479,138 Y449H probably damaging Het
Ets1 T A 9: 32,696,424 I14N probably benign Het
F11 A T 8: 45,250,090 F188I probably damaging Het
Fam13a C T 6: 58,935,707 V654I probably benign Het
Flt1 C T 5: 147,676,325 V369I probably benign Het
Focad T A 4: 88,178,133 Y251N probably damaging Het
Gm14025 G A 2: 129,039,044 Q321* probably null Het
Gm5150 A G 3: 15,963,583 S175P probably benign Het
Hnrnpul2 T A 19: 8,820,630 S117T probably benign Het
Kcnj5 A G 9: 32,322,968 V17A probably benign Het
Kctd1 T G 18: 14,974,198 T737P probably benign Het
Kif14 T C 1: 136,494,654 V894A probably damaging Het
Klhl12 A T 1: 134,489,030 T497S probably benign Het
Klhl6 C A 16: 19,947,131 V574L probably damaging Het
Lama1 A T 17: 67,761,628 D774V Het
Leng1 G A 7: 3,662,810 P176L probably benign Het
Lig1 T C 7: 13,289,463 L196P probably benign Het
Macrod1 C A 19: 7,196,865 Y245* probably null Het
Mcf2l T A 8: 12,948,130 I6N possibly damaging Het
Megf11 A G 9: 64,691,864 D687G possibly damaging Het
Muc4 A T 16: 32,751,460 H446L possibly damaging Het
Oasl2 A T 5: 114,897,848 I62F probably benign Het
Olfr1271 A T 2: 90,265,615 F272I probably damaging Het
Olfr298 A G 7: 86,488,975 V192A probably benign Het
Olfr671 C A 7: 104,975,125 A291S possibly damaging Het
Oog4 CAA CA 4: 143,437,452 probably null Het
Pdcl2 T C 5: 76,317,923 N150S probably benign Het
Pfkfb3 A G 2: 11,492,639 Y54H probably damaging Het
Rab25 A T 3: 88,544,963 probably null Het
Slc22a18 G A 7: 143,479,823 G104S probably damaging Het
Slc44a5 T A 3: 153,973,800 probably null Het
Slc5a8 A G 10: 88,921,699 Y517C probably damaging Het
Spata18 A G 5: 73,651,662 N26S probably benign Het
Tas2r115 T A 6: 132,737,680 S103C probably damaging Het
Tigd2 T A 6: 59,210,397 M83K probably damaging Het
Tnxb T A 17: 34,671,906 C408S probably benign Het
Trbj2-3 T A 6: 41,543,225 S1R possibly damaging Het
Triobp T C 15: 78,961,111 probably null Het
Uaca A G 9: 60,874,127 Q1349R probably benign Het
Ube2j2 T A 4: 155,956,428 L171I probably damaging Het
Vmn2r72 T A 7: 85,754,890 D31V probably benign Het
Zfp317 T G 9: 19,647,955 H488Q 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
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
R7711:Usp17ld UTSW 7 103250282 missense probably damaging 0.99
R7800:Usp17ld UTSW 7 103250834 missense probably damaging 1.00
R8099:Usp17ld UTSW 7 103250288 missense probably damaging 1.00
R8303:Usp17ld UTSW 7 103250816 missense probably damaging 1.00
RF009:Usp17ld UTSW 7 103250288 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATCTTCTGTGCAAGGGC -3'
(R):5'- GCCTTCATGGGTAACAAGTTGG -3'

Sequencing Primer
(F):5'- CTCCGGGATTTCTTCAGCTGG -3'
(R):5'- TTGGACAGAAAAGTAAGCTACCC -3'
Posted On2019-11-12