Incidental Mutation 'IGL01153:Lyset'
ID 52519
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: 0.209) question?
Stock # IGL01153
Quality Score
Status
Chromosome 12
Chromosomal Location 102710021-102713820 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 102711135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 119 (Y119*)
Ref Sequence ENSEMBL: ENSMUSP00000054611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057416] [ENSMUST00000173760] [ENSMUST00000174651] [ENSMUST00000178384] [ENSMUST00000179306]
AlphaFold Q8BH26
Predicted Effect probably null
Transcript: ENSMUST00000057416
AA Change: Y119*
SMART Domains Protein: ENSMUSP00000054611
Gene: ENSMUSG00000046675
AA Change: Y119*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,567,247 (GRCm39) I5309V probably benign Het
Amy1 A G 3: 113,349,724 (GRCm39) V482A possibly damaging Het
Ankrd22 A T 19: 34,106,229 (GRCm39) V81E probably damaging Het
Ccr5 C A 9: 123,924,649 (GRCm39) T84K probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Chchd3 A T 6: 32,985,502 (GRCm39) probably benign Het
Cpt1c C T 7: 44,616,092 (GRCm39) E307K probably damaging Het
Cyth2 T C 7: 45,457,813 (GRCm39) Y120C probably damaging Het
Dnajb11 T A 16: 22,681,430 (GRCm39) D69E probably benign Het
Ece2 T A 16: 20,451,544 (GRCm39) M215K possibly damaging Het
Enox2 C A X: 48,151,015 (GRCm39) probably null Het
Fam120c T C X: 150,182,801 (GRCm39) probably null Het
Fam149b A G 14: 20,427,949 (GRCm39) T319A possibly damaging Het
Fndc1 A T 17: 7,998,874 (GRCm39) probably null Het
Gcsh T A 8: 117,710,549 (GRCm39) D138V probably benign Het
Herc3 T A 6: 58,837,321 (GRCm39) H331Q probably benign Het
Iars1 A G 13: 49,865,281 (GRCm39) N586D probably damaging Het
Idh3g A G X: 72,823,668 (GRCm39) V280A probably damaging Het
Kctd18 A G 1: 58,004,550 (GRCm39) S115P probably damaging Het
Lims2 A G 18: 32,090,370 (GRCm39) probably null Het
Mael T C 1: 166,029,919 (GRCm39) K334E possibly damaging Het
Me3 A C 7: 89,498,844 (GRCm39) T475P probably damaging Het
Mrpl18 A G 17: 13,134,693 (GRCm39) L24P possibly damaging Het
Nol4 C A 18: 22,902,850 (GRCm39) R460L probably damaging Het
Numa1 A T 7: 101,643,951 (GRCm39) E181V probably damaging Het
Or6c2 T A 10: 129,362,864 (GRCm39) I256N probably damaging Het
Pex2 A T 3: 5,626,424 (GRCm39) H128Q probably benign Het
Pex3 A T 10: 13,428,597 (GRCm39) probably null Het
Psmb8 A G 17: 34,420,215 (GRCm39) Y269C possibly damaging Het
Sh2d3c A G 2: 32,615,096 (GRCm39) K62R probably benign Het
Strn4 G A 7: 16,571,846 (GRCm39) G613D probably damaging Het
Taok2 A G 7: 126,470,204 (GRCm39) W875R probably damaging Het
Tbc1d4 T C 14: 101,845,451 (GRCm39) D149G possibly damaging Het
Zfp473 A G 7: 44,383,992 (GRCm39) S113P probably damaging Het
Zfp768 A G 7: 126,943,703 (GRCm39) Y145H possibly damaging Het
Zgrf1 G A 3: 127,396,055 (GRCm39) G534R probably damaging Het
Other mutations in Lyset
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02716:Lyset APN 12 102,711,088 (GRCm39) missense probably benign 0.00
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 2013-06-21