Incidental Mutation 'IGL03239:Usp17la'
ID414195
Institutional Source Australian Phenomics Network (link to record)
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: 0.127) question?
Stock #IGL03239
Quality Score
Status
Chromosome7
Chromosomal Location104857009-104862667 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 104860620 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 144 (T144I)
Ref Sequence ENSEMBL: ENSMUSP00000068997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067695]
Predicted Effect possibly damaging
Transcript: ENSMUST00000067695
AA Change: T144I

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000068997
Gene: ENSMUSG00000054568
AA Change: T144I

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,233,976 Y309C probably damaging Het
Arvcf G T 16: 18,397,067 V44L probably damaging Het
Catsperg2 T G 7: 29,697,716 S1121R probably benign Het
Ccdc190 G T 1: 169,933,980 R217L probably benign Het
Chd8 G A 14: 52,227,548 P619S possibly damaging Het
Cyp17a1 A T 19: 46,667,357 W498R probably damaging Het
Dgka A G 10: 128,721,385 probably benign Het
Ep300 A G 15: 81,641,388 D1471G unknown Het
Htr2b A G 1: 86,099,692 F364S probably damaging Het
Kcnv1 A G 15: 45,109,490 probably benign Het
Lrrc37a T C 11: 103,499,407 T1731A probably benign Het
Mylip A G 13: 45,406,625 E179G possibly damaging Het
Olfm3 A G 3: 115,122,594 R392G probably damaging Het
Pbk T A 14: 65,817,218 D266E probably benign Het
Pcdhb13 C A 18: 37,442,835 L89M probably damaging Het
Prdm5 T G 6: 65,886,078 probably benign Het
Rab3gap2 A G 1: 185,249,894 D381G probably damaging Het
Sec24d A G 3: 123,336,489 N434D probably benign Het
Tmem246 T C 4: 49,586,034 Y378C probably damaging Het
Usp35 T C 7: 97,321,592 T336A possibly damaging 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
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
R7395:Usp17la UTSW 7 104861585 missense probably benign 0.30
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
Z1177:Usp17la UTSW 7 104861026 nonsense probably null
Posted On2016-08-02