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 Jr2, [s]3A
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # IGL02747
Quality Score
Chromosome 1
Chromosomal Location 79584593-79649689 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79601409 bp (GRCm39)
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: 9,323,282 (GRCm39) L3373* probably null Het
Dbx2 T C 15: 95,530,320 (GRCm39) T216A probably benign Het
Dsg4 A G 18: 20,579,995 (GRCm39) R67G probably damaging Het
Eng G A 2: 32,562,970 (GRCm39) probably null Het
Gm28042 T A 2: 119,861,875 (GRCm39) I206N probably damaging Het
Gsdmc4 C T 15: 63,765,720 (GRCm39) M276I probably benign Het
Itih2 A G 2: 10,102,756 (GRCm39) S793P probably benign Het
Kcnj13 T C 1: 87,317,087 (GRCm39) N9D probably benign Het
Kics2 A C 10: 121,581,455 (GRCm39) Q152P possibly damaging Het
Krt78 T A 15: 101,858,819 (GRCm39) probably benign Het
Megf10 A G 18: 57,423,565 (GRCm39) K985E probably benign Het
Naa25 A G 5: 121,552,668 (GRCm39) probably benign Het
Or8b3b T C 9: 38,584,380 (GRCm39) Y133C probably benign Het
Plekhm2 T C 4: 141,361,583 (GRCm39) T307A possibly damaging Het
Ppp1cc A G 5: 122,312,136 (GRCm39) K301E probably benign Het
Ralgds T C 2: 28,438,122 (GRCm39) probably benign Het
Rccd1 A T 7: 79,970,238 (GRCm39) D126E probably benign Het
Reps1 T C 10: 17,999,348 (GRCm39) S712P probably damaging Het
Rnf103 T A 6: 71,486,161 (GRCm39) I264N probably damaging Het
Rpap1 A G 2: 119,604,609 (GRCm39) I433T probably damaging Het
Ryr2 T G 13: 11,670,563 (GRCm39) N3478H probably damaging Het
Sox30 A G 11: 45,871,772 (GRCm39) D209G probably benign Het
Sox6 A G 7: 115,088,981 (GRCm39) F628S probably damaging Het
Tas1r3 C T 4: 155,944,917 (GRCm39) G768D possibly damaging Het
Tesk2 T C 4: 116,660,076 (GRCm39) V398A probably benign Het
Tmem135 A T 7: 88,793,878 (GRCm39) I388N probably damaging Het
Tpgs2 A G 18: 25,272,202 (GRCm39) probably benign Het
Vmn2r120 G A 17: 57,831,719 (GRCm39) H357Y probably benign Het
Other mutations in Ap1s3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Ap1s3 APN 1 79,601,439 (GRCm39) missense possibly damaging 0.81
IGL03164:Ap1s3 APN 1 79,602,887 (GRCm39) missense probably damaging 1.00
R2567:Ap1s3 UTSW 1 79,602,921 (GRCm39) missense possibly damaging 0.91
R4647:Ap1s3 UTSW 1 79,591,920 (GRCm39) splice site probably null
R4780:Ap1s3 UTSW 1 79,586,889 (GRCm39) missense probably benign 0.00
R5958:Ap1s3 UTSW 1 79,591,960 (GRCm39) missense probably benign
R6279:Ap1s3 UTSW 1 79,602,840 (GRCm39) missense probably damaging 1.00
R6300:Ap1s3 UTSW 1 79,602,840 (GRCm39) missense probably damaging 1.00
R6515:Ap1s3 UTSW 1 79,592,044 (GRCm39) missense probably damaging 1.00
R7078:Ap1s3 UTSW 1 79,602,845 (GRCm39) missense probably benign 0.00
R7135:Ap1s3 UTSW 1 79,586,919 (GRCm39) missense probably benign
R7485:Ap1s3 UTSW 1 79,592,018 (GRCm39) missense probably damaging 0.99
R7707:Ap1s3 UTSW 1 79,591,964 (GRCm39) missense probably benign 0.00
R8378:Ap1s3 UTSW 1 79,601,445 (GRCm39) missense probably damaging 1.00
R8897:Ap1s3 UTSW 1 79,601,494 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16