Incidental Mutation 'IGL02716:Lyset'
ID 304781
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lyset
Ensembl Gene ENSMUSG00000046675
Gene Name lysosomal enzyme trafficking factor
Synonyms D230037D09Rik, Tmem251
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # IGL02716
Quality Score
Status
Chromosome 12
Chromosomal Location 102710021-102713820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102711088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 104 (T104A)
Ref Sequence ENSEMBL: ENSMUSP00000054611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057416] [ENSMUST00000173760] [ENSMUST00000174651] [ENSMUST00000178384] [ENSMUST00000179306]
AlphaFold Q8BH26
Predicted Effect probably benign
Transcript: ENSMUST00000057416
AA Change: T104A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000054611
Gene: ENSMUSG00000046675
AA Change: T104A

DomainStartEndE-ValueType
Pfam:DUF4583 34 161 1.5e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173760
SMART Domains Protein: ENSMUSP00000133459
Gene: ENSMUSG00000096458

DomainStartEndE-ValueType
Pfam:PNMA 1 329 2e-137 PFAM
low complexity region 335 348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174651
SMART Domains Protein: ENSMUSP00000133604
Gene: ENSMUSG00000041716

DomainStartEndE-ValueType
Pfam:DUF4611 3 73 8.6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178384
SMART Domains Protein: ENSMUSP00000137010
Gene: ENSMUSG00000096458

DomainStartEndE-ValueType
Pfam:PNMA 1 328 7.1e-127 PFAM
low complexity region 335 348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179306
SMART Domains Protein: ENSMUSP00000136193
Gene: ENSMUSG00000098530

DomainStartEndE-ValueType
Pfam:DUF4611 3 77 1.5e-28 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T C 11: 54,218,102 (GRCm39) S212P probably benign Het
Ago2 C T 15: 72,983,576 (GRCm39) R711Q possibly damaging Het
Akp3 A C 1: 87,053,201 (GRCm39) D91A probably damaging Het
Arhgap12 T A 18: 6,111,857 (GRCm39) Q169L possibly damaging Het
Aspm A G 1: 139,407,425 (GRCm39) Y2104C probably damaging Het
Baz2b G A 2: 59,792,868 (GRCm39) S420L possibly damaging Het
Cenpo T C 12: 4,265,390 (GRCm39) N210S possibly damaging Het
Chadl T C 15: 81,580,116 (GRCm39) N40D probably damaging Het
Crebbp T C 16: 3,932,742 (GRCm39) E586G probably benign Het
Cts7 T A 13: 61,504,422 (GRCm39) Q47L probably benign Het
Cyp2c40 C A 19: 39,795,980 (GRCm39) D133Y possibly damaging Het
Dnah3 A T 7: 119,536,246 (GRCm39) M3679K probably damaging Het
Dym T C 18: 75,419,754 (GRCm39) Y642H probably damaging Het
Efr3b T C 12: 4,034,627 (GRCm39) D65G probably damaging Het
Elmo1 T A 13: 20,633,672 (GRCm39) F445I probably damaging Het
Epdr1 C T 13: 19,778,740 (GRCm39) V119M probably benign Het
Epha4 G T 1: 77,357,602 (GRCm39) R799S probably damaging Het
Esyt3 A T 9: 99,199,277 (GRCm39) V778E probably damaging Het
F10 A T 8: 13,098,177 (GRCm39) K127* probably null Het
Fcgbp G A 7: 27,800,859 (GRCm39) E1302K probably damaging Het
Fer1l4 A G 2: 155,871,635 (GRCm39) F1382L probably damaging Het
Fhad1 T C 4: 141,645,642 (GRCm39) I318V possibly damaging Het
Fscn2 A T 11: 120,257,550 (GRCm39) T304S probably benign Het
Gab1 A T 8: 81,496,323 (GRCm39) L659Q probably damaging Het
Gm4845 A C 1: 141,184,576 (GRCm39) noncoding transcript Het
Gm572 A G 4: 148,739,327 (GRCm39) M52V probably benign Het
Hmgcr T C 13: 96,796,520 (GRCm39) probably null Het
Kcnk5 T C 14: 20,231,496 (GRCm39) T9A probably damaging Het
Krt87 A C 15: 101,332,485 (GRCm39) F243V possibly damaging Het
Mast1 G T 8: 85,662,352 (GRCm39) P52Q probably damaging Het
Mcf2l A T 8: 13,047,277 (GRCm39) Q211L probably benign Het
Mtrex T G 13: 113,019,680 (GRCm39) D810A probably benign Het
Mtus2 C A 5: 148,173,120 (GRCm39) P968T probably benign Het
Mylk2 T C 2: 152,764,073 (GRCm39) *614R probably null Het
Myo15b A T 11: 115,774,535 (GRCm39) E2049V probably benign Het
Myo6 A T 9: 80,176,976 (GRCm39) H581L probably damaging Het
Numb A T 12: 83,847,982 (GRCm39) S241T possibly damaging Het
Or1j10 A G 2: 36,267,355 (GRCm39) D189G possibly damaging Het
Or4k77 A T 2: 111,199,126 (GRCm39) I50F probably benign Het
Or4x11 G T 2: 89,868,138 (GRCm39) V292L probably benign Het
Phldb2 A G 16: 45,621,953 (GRCm39) S676P probably damaging Het
Rttn G A 18: 89,066,541 (GRCm39) E1196K possibly damaging Het
Slc13a3 G A 2: 165,248,635 (GRCm39) P548S unknown Het
Slc2a7 A G 4: 150,244,467 (GRCm39) probably benign Het
Slc37a1 T C 17: 31,547,135 (GRCm39) S261P possibly damaging Het
Spryd3 T A 15: 102,041,896 (GRCm39) Y42F possibly damaging Het
Srrm3 A G 5: 135,883,287 (GRCm39) probably null Het
Stambp G A 6: 83,533,372 (GRCm39) T297I probably damaging Het
Sypl1 T A 12: 33,017,668 (GRCm39) Y129N probably damaging Het
Syt14 G A 1: 192,662,843 (GRCm39) P368S possibly damaging Het
Tas2r122 T C 6: 132,688,227 (GRCm39) D222G probably damaging Het
Tead2 C A 7: 44,881,720 (GRCm39) Y79* probably null Het
Uso1 T C 5: 92,321,794 (GRCm39) V229A probably damaging Het
Vmn1r238 A G 18: 3,123,124 (GRCm39) S97P probably damaging Het
Vmn2r82 T A 10: 79,213,678 (GRCm39) V88D probably benign Het
Vps29 A G 5: 122,500,129 (GRCm39) T85A probably benign Het
Wdr90 T A 17: 26,076,194 (GRCm39) S500C probably damaging Het
Zfp958 G A 8: 4,675,967 (GRCm39) probably null Het
Other mutations in Lyset
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Lyset APN 12 102,711,135 (GRCm39) nonsense probably null
IGL03142:Lyset APN 12 102,710,933 (GRCm39) missense probably damaging 1.00
R0415:Lyset UTSW 12 102,711,135 (GRCm39) nonsense probably null
R4860:Lyset UTSW 12 102,710,314 (GRCm39) intron probably benign
R4860:Lyset UTSW 12 102,710,314 (GRCm39) intron probably benign
R8520:Lyset UTSW 12 102,710,431 (GRCm39) splice site probably null
Posted On 2015-04-16