Incidental Mutation 'R6279:Ap1s3'
ID 507810
Institutional Source Beutler Lab
Gene Symbol Ap1s3
Ensembl Gene ENSMUSG00000054702
Gene Name adaptor-related protein complex AP-1, sigma 3
Synonyms Jr2, [s]3A
MMRRC Submission 044449-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R6279 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 79584593-79649689 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79602840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 56 (K56E)
Ref Sequence ENSEMBL: ENSMUSP00000125268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159312] [ENSMUST00000160706] [ENSMUST00000162342]
AlphaFold Q7TN05
Predicted Effect probably damaging
Transcript: ENSMUST00000159312
AA Change: K56E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125119
Gene: ENSMUSG00000054702
AA Change: K56E

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 70 1.3e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160706
AA Change: K56E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125631
Gene: ENSMUSG00000054702
AA Change: K56E

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 81 1.1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162342
AA Change: K56E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125268
Gene: ENSMUSG00000054702
AA Change: K56E

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 142 5e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195349
Meta Mutation Damage Score 0.8962 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob C T 12: 8,057,769 (GRCm39) R2084* probably null Het
Arid1b C A 17: 5,392,274 (GRCm39) L1935M probably damaging Het
Bag6 T C 17: 35,357,577 (GRCm39) V122A probably damaging Het
Bmal2 A G 6: 146,723,444 (GRCm39) Y258C probably damaging Het
Cacna1e T A 1: 154,301,678 (GRCm39) T1685S probably benign Het
Cd163 T A 6: 124,294,950 (GRCm39) C671* probably null Het
Cul3 A G 1: 80,264,669 (GRCm39) V211A probably damaging Het
Cyp2d22 C A 15: 82,258,169 (GRCm39) K150N probably damaging Het
Dnah6 A T 6: 73,042,798 (GRCm39) I3208N probably damaging Het
Dnah7b T C 1: 46,365,046 (GRCm39) F3609S probably damaging Het
Endod1 T C 9: 14,268,166 (GRCm39) T440A probably benign Het
Exph5 A G 9: 53,285,246 (GRCm39) T776A possibly damaging Het
Faap24 A C 7: 35,095,709 (GRCm39) V12G possibly damaging Het
Gabrg2 T C 11: 41,891,350 (GRCm39) probably null Het
Ggta1 A G 2: 35,298,006 (GRCm39) Y148H probably damaging Het
Hspe1 T A 1: 55,129,860 (GRCm39) probably null Het
Il12a A T 3: 68,605,312 (GRCm39) I193F probably damaging Het
Il2rb T C 15: 78,365,738 (GRCm39) N520D possibly damaging Het
Kat6a A G 8: 23,429,628 (GRCm39) Q1661R unknown Het
Klhl18 T A 9: 110,265,130 (GRCm39) N362I probably benign Het
Lrba A G 3: 86,256,171 (GRCm39) D1171G probably benign Het
Mef2b C T 8: 70,619,769 (GRCm39) T285I possibly damaging Het
Mmrn2 T C 14: 34,119,614 (GRCm39) S198P probably benign Het
Msh6 T C 17: 88,287,677 (GRCm39) W106R probably damaging Het
Nek5 T A 8: 22,597,737 (GRCm39) M281L probably benign Het
Or10w3 A G 19: 13,704,029 (GRCm39) I135V probably benign Het
Or2y15 T A 11: 49,351,039 (GRCm39) C178S probably damaging Het
Or4c105 A T 2: 88,647,719 (GRCm39) D68V probably damaging Het
Or52e19 A T 7: 102,959,636 (GRCm39) H236L probably benign Het
Or52e7 G A 7: 104,684,878 (GRCm39) V158M probably benign Het
Pcdhgb5 T A 18: 37,865,752 (GRCm39) F516I probably damaging Het
Pde10a T C 17: 9,197,789 (GRCm39) I1026T probably damaging Het
Pde4dip A C 3: 97,606,496 (GRCm39) L2126R probably damaging Het
Pds5b T A 5: 150,646,713 (GRCm39) N167K possibly damaging Het
Pkmyt1 C T 17: 23,951,476 (GRCm39) P10L probably benign Het
Pphln1-ps1 T C 16: 13,495,134 (GRCm39) S78P probably damaging Het
Prr5l A T 2: 101,547,765 (GRCm39) Y253* probably null Het
Rdh9 A G 10: 127,612,627 (GRCm39) T92A probably benign Het
Reln A G 5: 22,101,839 (GRCm39) Y3364H probably damaging Het
Rufy4 T A 1: 74,172,383 (GRCm39) S369T probably benign Het
Ryr1 A T 7: 28,786,853 (GRCm39) M1587K possibly damaging Het
Ryr2 T A 13: 11,695,885 (GRCm39) H2994L probably damaging Het
Safb2 T C 17: 56,870,226 (GRCm39) H950R possibly damaging Het
Sez6 T C 11: 77,867,367 (GRCm39) V788A possibly damaging Het
Sfrp4 G A 13: 19,808,023 (GRCm39) A141T probably damaging Het
Sh3d19 A T 3: 86,011,409 (GRCm39) I332F possibly damaging Het
Skor1 A T 9: 63,052,596 (GRCm39) W458R probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc19a2 C T 1: 164,084,344 (GRCm39) T78M probably damaging Het
Slc8a3 T A 12: 81,361,752 (GRCm39) I356F probably damaging Het
Slk A G 19: 47,630,443 (GRCm39) T1205A probably damaging Het
Tcte1 T C 17: 45,844,215 (GRCm39) S64P possibly damaging Het
Tnpo1 G A 13: 99,027,216 (GRCm39) P25L possibly damaging Het
Top3a T C 11: 60,640,234 (GRCm39) D488G probably benign Het
Tshz1 A T 18: 84,033,436 (GRCm39) V324D probably damaging Het
Ttc21a T C 9: 119,790,905 (GRCm39) S884P possibly damaging Het
Usp17lb A G 7: 104,489,898 (GRCm39) L342P probably damaging Het
Vwa3a A G 7: 120,381,623 (GRCm39) N3S probably damaging Het
Zfp672 A T 11: 58,208,094 (GRCm39) C76S probably damaging Het
Other mutations in Ap1s3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Ap1s3 APN 1 79,601,439 (GRCm39) missense possibly damaging 0.81
IGL02747:Ap1s3 APN 1 79,601,409 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GACACATGTCGATGGAGATCTTC -3'
(R):5'- CTTGGCTGAGTGAACACTGG -3'

Sequencing Primer
(F):5'- ATGGAGATCTTCACTAGCGC -3'
(R):5'- AGTGAACACTGGGGGCTTCTC -3'
Posted On 2018-03-15