Incidental Mutation 'IGL01715:Ap5s1'
ID 104918
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap5s1
Ensembl Gene ENSMUSG00000068264
Gene Name adaptor-related protein 5 complex, sigma 1 subunit
Synonyms 0610038L13Rik, 2310035K24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL01715
Quality Score
Status
Chromosome 2
Chromosomal Location 131052280-131055434 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131053293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 26 (S26P)
Ref Sequence ENSEMBL: ENSMUSP00000105839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089506] [ENSMUST00000110206] [ENSMUST00000110208] [ENSMUST00000110210] [ENSMUST00000153097]
AlphaFold Q9D742
Predicted Effect probably damaging
Transcript: ENSMUST00000089506
AA Change: S26P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086933
Gene: ENSMUSG00000068264
AA Change: S26P

DomainStartEndE-ValueType
Pfam:AP-5_subunit_s1 1 162 1.2e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110206
AA Change: S26P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105835
Gene: ENSMUSG00000068264
AA Change: S26P

DomainStartEndE-ValueType
Pfam:AP-5_subunit_s1 1 68 3.6e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110208
AA Change: S26P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105837
Gene: ENSMUSG00000068264
AA Change: S26P

DomainStartEndE-ValueType
Pfam:AP-5_subunit_s1 1 195 6.7e-66 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110210
AA Change: S26P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105839
Gene: ENSMUSG00000068264
AA Change: S26P

DomainStartEndE-ValueType
Pfam:AP-5_subunit_s1 1 162 8.2e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153901
Predicted Effect probably benign
Transcript: ENSMUST00000153097
SMART Domains Protein: ENSMUSP00000121488
Gene: ENSMUSG00000068264

DomainStartEndE-ValueType
Pfam:AP-5_subunit_s1 1 99 6.7e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A G 15: 11,258,182 (GRCm39) N498D possibly damaging Het
Apaf1 T C 10: 90,894,216 (GRCm39) Y473C probably benign Het
Cdc42ep4 C T 11: 113,620,268 (GRCm39) G41D probably damaging Het
Ddx42 T A 11: 106,115,101 (GRCm39) Y60N probably damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Drd3 T A 16: 43,641,631 (GRCm39) L316M probably damaging Het
Hadha C T 5: 30,325,082 (GRCm39) G703R probably damaging Het
Lrrc74a A C 12: 86,801,189 (GRCm39) M347L probably benign Het
Macf1 G T 4: 123,284,879 (GRCm39) Q4208K probably damaging Het
Myh15 C T 16: 48,877,847 (GRCm39) probably benign Het
Ndufa7 A T 17: 34,057,122 (GRCm39) M101L probably benign Het
Pla2g6 A G 15: 79,202,057 (GRCm39) V38A probably benign Het
Sar1a A G 10: 61,521,406 (GRCm39) probably benign Het
Sdc3 A G 4: 130,546,378 (GRCm39) T246A probably damaging Het
Sds C T 5: 120,617,272 (GRCm39) R43* probably null Het
Slc9a9 A G 9: 94,842,499 (GRCm39) Y350C probably damaging Het
Strc T A 2: 121,196,218 (GRCm39) probably null Het
Tln1 A G 4: 43,555,890 (GRCm39) V108A probably damaging Het
Vmn2r111 G T 17: 22,788,054 (GRCm39) probably benign Het
Wnk1 G A 6: 119,925,358 (GRCm39) P1369S probably damaging Het
Zfhx4 T A 3: 5,307,105 (GRCm39) D110E probably benign Het
Zfp462 A G 4: 55,008,586 (GRCm39) Y184C probably benign Het
Other mutations in Ap5s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02216:Ap5s1 APN 2 131,054,887 (GRCm39) unclassified probably benign
R0838:Ap5s1 UTSW 2 131,053,351 (GRCm39) missense probably damaging 1.00
R6018:Ap5s1 UTSW 2 131,054,915 (GRCm39) nonsense probably null
R7035:Ap5s1 UTSW 2 131,054,732 (GRCm39) missense probably damaging 1.00
R7348:Ap5s1 UTSW 2 131,054,572 (GRCm39) missense possibly damaging 0.58
R7356:Ap5s1 UTSW 2 131,054,582 (GRCm39) missense probably damaging 1.00
R7585:Ap5s1 UTSW 2 131,054,482 (GRCm39) missense probably damaging 0.99
R7683:Ap5s1 UTSW 2 131,054,627 (GRCm39) missense probably damaging 0.98
R8289:Ap5s1 UTSW 2 131,054,379 (GRCm39) missense probably benign 0.03
Posted On 2014-01-21