Incidental Mutation 'IGL02747:Ap1s3'
ID 306087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1s3
Ensembl Gene ENSMUSG00000054702
Gene Name adaptor-related protein complex AP-1, sigma 3
Synonyms [s]3A, Jr2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL02747
Quality Score
Chromosome 1
Chromosomal Location 79606876-79671972 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79623692 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 94 (Y94C)
Ref Sequence ENSEMBL: ENSMUSP00000125268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159312] [ENSMUST00000160706] [ENSMUST00000162342]
AlphaFold Q7TN05
Predicted Effect probably benign
Transcript: ENSMUST00000159312
SMART Domains Protein: ENSMUSP00000125119
Gene: ENSMUSG00000054702

Pfam:Clat_adaptor_s 1 70 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160706
SMART Domains Protein: ENSMUSP00000125631
Gene: ENSMUSG00000054702

Pfam:Clat_adaptor_s 1 81 1.1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162342
AA Change: Y94C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125268
Gene: ENSMUSG00000054702
AA Change: Y94C

Pfam:Clat_adaptor_s 1 142 5e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195349
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,373,282 L3373* probably null Het
BC048403 A C 10: 121,745,550 Q152P possibly damaging Het
Dbx2 T C 15: 95,632,439 T216A probably benign Het
Dsg4 A G 18: 20,446,938 R67G probably damaging Het
Eng G A 2: 32,672,958 probably null Het
Gm28042 T A 2: 120,031,394 I206N probably damaging Het
Gsdmc4 C T 15: 63,893,871 M276I probably benign Het
Itih2 A G 2: 10,097,945 S793P probably benign Het
Kcnj13 T C 1: 87,389,365 N9D probably benign Het
Krt78 T A 15: 101,950,384 probably benign Het
Megf10 A G 18: 57,290,493 K985E probably benign Het
Naa25 A G 5: 121,414,605 probably benign Het
Olfr918 T C 9: 38,673,084 Y133C probably benign Het
Plekhm2 T C 4: 141,634,272 T307A possibly damaging Het
Ppp1cc A G 5: 122,174,073 K301E probably benign Het
Ralgds T C 2: 28,548,110 probably benign Het
Rccd1 A T 7: 80,320,490 D126E probably benign Het
Reps1 T C 10: 18,123,600 S712P probably damaging Het
Rnf103 T A 6: 71,509,177 I264N probably damaging Het
Rpap1 A G 2: 119,774,128 I433T probably damaging Het
Ryr2 T G 13: 11,655,677 N3478H probably damaging Het
Sox30 A G 11: 45,980,945 D209G probably benign Het
Sox6 A G 7: 115,489,746 F628S probably damaging Het
Tas1r3 C T 4: 155,860,460 G768D possibly damaging Het
Tesk2 T C 4: 116,802,879 V398A probably benign Het
Tmem135 A T 7: 89,144,670 I388N probably damaging Het
Tpgs2 A G 18: 25,139,145 probably benign Het
Vmn2r120 G A 17: 57,524,719 H357Y probably benign Het
Other mutations in Ap1s3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Ap1s3 APN 1 79623722 missense possibly damaging 0.81
IGL03164:Ap1s3 APN 1 79625170 missense probably damaging 1.00
R2567:Ap1s3 UTSW 1 79625204 missense possibly damaging 0.91
R4647:Ap1s3 UTSW 1 79614203 splice site probably null
R4780:Ap1s3 UTSW 1 79609172 missense probably benign 0.00
R5958:Ap1s3 UTSW 1 79614243 missense probably benign
R6279:Ap1s3 UTSW 1 79625123 missense probably damaging 1.00
R6300:Ap1s3 UTSW 1 79625123 missense probably damaging 1.00
R6515:Ap1s3 UTSW 1 79614327 missense probably damaging 1.00
R7078:Ap1s3 UTSW 1 79625128 missense probably benign 0.00
R7135:Ap1s3 UTSW 1 79609202 missense probably benign
R7485:Ap1s3 UTSW 1 79614301 missense probably damaging 0.99
R7707:Ap1s3 UTSW 1 79614247 missense probably benign 0.00
R8378:Ap1s3 UTSW 1 79623728 missense probably damaging 1.00
R8897:Ap1s3 UTSW 1 79623777 missense probably damaging 1.00
Posted On 2015-04-16