Incidental Mutation 'R8189:Usp17le'
ID635024
Institutional Source Beutler Lab
Gene Symbol Usp17le
Ensembl Gene ENSMUSG00000043073
Gene Nameubiquitin specific peptidase 17-like E
SynonymsGm6596, Dub3
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #R8189 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location104768049-104777470 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 104769348 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 196 (D196N)
Ref Sequence ENSEMBL: ENSMUSP00000051716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053464] [ENSMUST00000211384]
Predicted Effect probably damaging
Transcript: ENSMUST00000053464
AA Change: D196N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051716
Gene: ENSMUSG00000043073
AA Change: D196N

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 damaging
Transcript: ENSMUST00000211384
AA Change: D196N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030617O03Rik G A 12: 100,838,630 E127K probably benign Het
Abca12 A G 1: 71,285,726 I1531T probably damaging Het
Ankrd13d G A 19: 4,270,852 P516S probably benign Het
BC080695 T G 4: 143,571,960 Y158D probably benign Het
Cchcr1 A G 17: 35,526,666 I422V probably benign Het
Ceacam1 A G 7: 25,473,918 S282P probably damaging Het
Chka G T 19: 3,875,759 E159* probably null Het
Ckmt2 T C 13: 91,855,775 Y368C probably damaging Het
Cngb1 TTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGG TTCTGGCTCTGGCTCTGGCTCTGG 8: 95,303,620 probably benign Het
Ctsq A G 13: 61,037,155 L239P probably damaging Het
D630045J12Rik A G 6: 38,158,171 L1358P probably damaging Het
Dnajb8 C T 6: 88,222,958 R159C possibly damaging Het
Fgd6 T C 10: 94,074,215 L794P probably benign Het
Fgfr2 G A 7: 130,172,899 T654I probably damaging Het
Gmeb2 G A 2: 181,277,967 T38M probably damaging Het
Gria1 T C 11: 57,217,799 F243L probably benign Het
Gria2 A T 3: 80,722,182 D244E probably damaging Het
Ints2 T A 11: 86,215,570 I1005F probably damaging Het
Ipo11 T A 13: 106,925,096 S19C probably damaging Het
Kmt2b A G 7: 30,569,331 F2658L probably damaging Het
Lrrc38 G A 4: 143,350,733 G189R probably damaging Het
Mcf2l A G 8: 12,963,164 D27G probably damaging Het
Mrgprb2 G T 7: 48,552,754 Y74* probably null Het
Nrcam C A 12: 44,570,508 P740T possibly damaging Het
Nrxn1 C T 17: 90,704,209 V331I probably damaging Het
Olfr1293-ps T C 2: 111,527,773 V153A Het
Olfr172 T A 16: 58,760,925 N84Y probably damaging Het
Olfr47 T C 6: 43,236,079 V157A probably benign Het
Olfr472 A G 7: 107,902,732 N5S probably damaging Het
Olfr792 T A 10: 129,541,253 C239S probably damaging Het
Pla2g4a A G 1: 149,857,586 F479L probably benign Het
Scaper A T 9: 55,912,120 F104I probably damaging Het
Serpinb3c A T 1: 107,276,309 C58S probably benign Het
Setdb1 A G 3: 95,346,711 V260A probably damaging Het
Shank3 A G 15: 89,549,236 T1395A probably benign Het
Skiv2l2 T A 13: 112,891,981 R628S possibly damaging Het
Slc35b4 A G 6: 34,167,635 I95T probably damaging Het
Trpm5 A G 7: 143,081,838 V599A probably benign Het
Ttk A G 9: 83,847,219 S352G probably benign Het
Ugt2b35 T A 5: 87,001,443 S184R probably damaging Het
Vmn2r15 A G 5: 109,286,847 F664L probably benign Het
Vmn2r94 A T 17: 18,258,356 L43Q 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
IGL02413:Usp17le APN 7 104769726 missense probably benign 0.39
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
R8248:Usp17le UTSW 7 104769794 missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AGGCATTCTCTCCAAGTAGC -3'
(R):5'- CCCCAGAAGGCTGTAAGATG -3'

Sequencing Primer
(F):5'- AGGCATTCTCTCCAAGTAGCTCTTC -3'
(R):5'- GAAGCCCATGTGACCCAGAGTC -3'
Posted On2020-07-13