Incidental Mutation 'R7395:Usp17la'
ID573739
Institutional Source Beutler Lab
Gene Symbol Usp17la
Ensembl Gene ENSMUSG00000054568
Gene Nameubiquitin specific peptidase 17-like A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #R7395 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location104857009-104862667 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 104861585 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 466 (S466T)
Ref Sequence ENSEMBL: ENSMUSP00000068997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067695]
Predicted Effect probably benign
Transcript: ENSMUST00000067695
AA Change: S466T

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068997
Gene: ENSMUSG00000054568
AA Change: S466T

DomainStartEndE-ValueType
Pfam:UCH 50 345 3.3e-53 PFAM
Pfam:UCH_1 51 328 1.1e-24 PFAM
low complexity region 374 385 N/A INTRINSIC
low complexity region 505 521 N/A INTRINSIC
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830403N18Rik G T X: 56,138,780 probably null Het
Abca13 A G 11: 9,291,658 I1174V probably benign Het
Acoxl G A 2: 127,884,416 V237M probably damaging Het
Adam33 A C 2: 131,061,169 W52G probably benign Het
Adgrv1 T C 13: 81,559,348 H1313R probably damaging Het
Ap3d1 T C 10: 80,730,882 T89A probably benign Het
Armc8 T C 9: 99,533,132 E165G probably damaging Het
Atp6v1c1 T C 15: 38,691,705 *383Q probably null Het
Atp8b4 A T 2: 126,375,694 L634Q possibly damaging Het
Bhlhe40 TG TGG 6: 108,664,857 probably null Het
Bicd2 A G 13: 49,378,230 D316G possibly damaging Het
Bop1 A T 15: 76,453,841 S610T probably damaging Het
Car11 T A 7: 45,701,321 Y80* probably null Het
Ccdc96 T C 5: 36,485,265 I205T probably benign Het
Ces2a A G 8: 104,739,641 E390G probably benign Het
Cfap54 C A 10: 92,884,703 V2630L unknown Het
Chek2 G T 5: 110,872,108 probably null Het
Cntn3 C T 6: 102,337,394 probably null Het
Cpne3 A T 4: 19,528,239 D339E probably damaging Het
Crocc2 C T 1: 93,216,107 Q1403* probably null Het
Csnka2ip G A 16: 64,479,440 T187I Het
Ctu1 A G 7: 43,676,595 H226R possibly damaging Het
Cubn G T 2: 13,287,064 Q3317K probably damaging Het
Cyp17a1 A G 19: 46,670,695 L169P probably benign Het
Dcc T A 18: 71,374,569 K911* probably null Het
Dffb A T 4: 153,969,113 S257R probably damaging Het
Dip2c A C 13: 9,614,377 N942T probably damaging Het
Dnah3 T A 7: 119,966,251 I169F Het
Dnah3 T C 7: 120,060,960 M830V probably benign Het
Dnajc5g G A 5: 31,111,665 S130N possibly damaging Het
Dscaml1 C A 9: 45,702,405 Q939K possibly damaging Het
Evpl G C 11: 116,227,079 N761K possibly damaging Het
Fbxw8 A T 5: 118,068,215 I556N probably damaging Het
Fry G T 5: 150,380,883 M579I possibly damaging Het
Ggt7 A T 2: 155,495,880 M488K probably benign Het
Gm6588 A T 5: 112,450,169 E194V possibly damaging Het
Gnpnat1 T A 14: 45,381,581 H107L probably benign Het
Golga2 C A 2: 32,305,587 P798Q possibly damaging Het
Gpr35 G A 1: 92,983,207 A214T probably damaging Het
Greb1 A T 12: 16,709,430 probably null Het
Hdac10 G A 15: 89,128,284 T32I probably benign Het
Hkdc1 G A 10: 62,385,699 T860I probably damaging Het
Icam5 C A 9: 21,035,442 P422Q possibly damaging Het
Ispd A T 12: 36,501,995 I283F possibly damaging Het
Ist1 A C 8: 109,677,527 S238A probably benign Het
Lrig2 T C 3: 104,497,520 N91D probably benign Het
Mapt A C 11: 104,328,123 D352A probably damaging Het
Micall2 G A 5: 139,716,369 P373L possibly damaging Het
Mocs1 A G 17: 49,454,557 S560G possibly damaging Het
Mpo A G 11: 87,801,124 D461G probably damaging Het
Myo1a G T 10: 127,710,440 V271L probably damaging Het
Ncoa1 G A 12: 4,295,188 P720S not run Het
Ncr1 T A 7: 4,338,151 I47N probably damaging Het
Ndufb6 G A 4: 40,277,730 R66C probably damaging Het
Obox5 A T 7: 15,758,743 S208C probably damaging Het
Olfr136 A T 17: 38,335,864 K236* probably null Het
Olfr1494 T C 19: 13,749,138 S11P probably damaging Het
Olfr39 T A 9: 20,286,530 M285K probably damaging Het
Olfr501-ps1 T A 7: 108,508,404 F116Y unknown Het
Padi4 A C 4: 140,761,672 V152G probably damaging Het
Pdzd7 A T 19: 45,037,011 D348E probably damaging Het
Pdzph1 T A 17: 58,879,159 K1212N possibly damaging Het
Piezo2 C T 18: 63,027,563 G2341R probably damaging Het
Plb1 A G 5: 32,353,684 K1298E probably benign Het
Prr14l A G 5: 32,828,638 L1171P probably benign Het
Rab11fip5 T C 6: 85,341,868 T680A probably benign Het
Rev1 A T 1: 38,088,065 N371K possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,579,926 probably benign Het
Ryr2 A G 13: 11,785,111 C917R probably damaging Het
Sall1 A T 8: 89,030,921 S852T possibly damaging Het
Serpine2 A G 1: 79,801,555 F296L probably damaging Het
Slc12a6 A T 2: 112,352,542 N754I probably damaging Het
Slc39a6 A T 18: 24,585,275 L575Q probably damaging Het
Smarcc2 T A 10: 128,485,606 L890Q probably damaging Het
Smg5 T A 3: 88,361,071 V1006D probably damaging Het
Ssh2 T C 11: 77,393,073 V51A probably damaging Het
St14 T C 9: 31,096,899 K547E probably benign Het
Stag1 T G 9: 100,796,728 V234G probably damaging Het
Stag3 A T 5: 138,281,945 Q24L probably benign Het
Stra6 T C 9: 58,141,097 Y158H probably damaging Het
Tmem196 G A 12: 120,011,267 C62Y probably damaging Het
Tmem265 T A 7: 127,564,867 F84L Het
Ttn A G 2: 76,946,490 I1522T unknown Het
Vmn2r31 A T 7: 7,384,745 V609E probably damaging Het
Vmn2r52 C T 7: 10,170,817 C365Y probably benign Het
Zbtb4 A T 11: 69,776,111 T81S possibly damaging Het
Zfp605 A T 5: 110,112,019 probably benign Het
Other mutations in Usp17la
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Usp17la APN 7 104861315 missense probably benign 0.04
IGL01482:Usp17la APN 7 104859393 start codon destroyed probably benign 0.28
IGL02236:Usp17la APN 7 104861146 nonsense probably null
IGL03239:Usp17la APN 7 104860620 missense possibly damaging 0.69
R0512:Usp17la UTSW 7 104861039 missense possibly damaging 0.50
R1632:Usp17la UTSW 7 104860911 missense probably benign 0.02
R1828:Usp17la UTSW 7 104861124 missense probably damaging 1.00
R1918:Usp17la UTSW 7 104860746 missense probably benign 0.11
R1976:Usp17la UTSW 7 104860320 missense possibly damaging 0.81
R2058:Usp17la UTSW 7 104861171 missense probably damaging 1.00
R2059:Usp17la UTSW 7 104861171 missense probably damaging 1.00
R2078:Usp17la UTSW 7 104859393 start codon destroyed probably benign 0.28
R2197:Usp17la UTSW 7 104860712 missense probably damaging 1.00
R3610:Usp17la UTSW 7 104861072 missense probably damaging 1.00
R3684:Usp17la UTSW 7 104861730 missense possibly damaging 0.96
R4480:Usp17la UTSW 7 104860690 missense probably benign 0.15
R4633:Usp17la UTSW 7 104860221 missense possibly damaging 0.92
R4701:Usp17la UTSW 7 104860649 nonsense probably null
R4907:Usp17la UTSW 7 104861148 missense probably damaging 1.00
R5057:Usp17la UTSW 7 104861123 missense possibly damaging 0.95
R5091:Usp17la UTSW 7 104860932 missense probably damaging 0.99
R5313:Usp17la UTSW 7 104861250 missense probably benign 0.00
R6269:Usp17la UTSW 7 104860350 missense possibly damaging 0.82
R7054:Usp17la UTSW 7 104861307 missense probably benign 0.38
R7570:Usp17la UTSW 7 104860397 missense probably damaging 1.00
R7633:Usp17la UTSW 7 104861147 missense probably damaging 1.00
R7641:Usp17la UTSW 7 104861447 nonsense probably null
R7674:Usp17la UTSW 7 104861447 nonsense probably null
X0062:Usp17la UTSW 7 104861478 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCACAGAAGATTTAGGAGAGCCC -3'
(R):5'- GGGTGATCACTAGCAAACAAGC -3'

Sequencing Primer
(F):5'- GAGAGCAATTAAAGAAACCTCCTTAG -3'
(R):5'- CAGAAGCCTCTGCCCTTG -3'
Posted On2019-09-13