Incidental Mutation 'R6300:Ap1s3'
ID 509003
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 044409-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R6300 (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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 99% (72/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A G 7: 40,642,885 (GRCm39) T185A possibly damaging Het
4932414N04Rik A G 2: 68,561,453 (GRCm39) Y260C possibly damaging Het
Adamtsl1 G A 4: 86,166,254 (GRCm39) G395S probably damaging Het
Amn T C 12: 111,240,623 (GRCm39) L85P probably benign Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Apip C T 2: 102,917,498 (GRCm39) R66C possibly damaging Het
Apob C T 12: 8,057,769 (GRCm39) R2084* probably null Het
Apol6 A T 15: 76,935,471 (GRCm39) I247L probably benign Het
Arfgap2 A G 2: 91,097,540 (GRCm39) Q112R probably benign Het
Armh1 A G 4: 117,088,979 (GRCm39) Y139H 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
Cct2 C T 10: 116,892,064 (GRCm39) G328D probably damaging Het
Cd163 T A 6: 124,294,950 (GRCm39) C671* probably null Het
Cers5 G T 15: 99,670,100 (GRCm39) A54E probably damaging Het
Ctdp1 T A 18: 80,502,455 (GRCm39) M152L probably benign Het
Cul3 A G 1: 80,264,669 (GRCm39) V211A probably damaging Het
Defb36 T A 2: 152,454,418 (GRCm39) W26R probably damaging Het
Dnah17 T C 11: 117,925,136 (GRCm39) E3899G 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
Duox1 T G 2: 122,168,181 (GRCm39) L1102R probably damaging Het
Dzip3 A G 16: 48,772,170 (GRCm39) S500P 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
Gabrg2 T C 11: 41,891,350 (GRCm39) probably null Het
Hoxd3 A G 2: 74,574,420 (GRCm39) Y22C probably damaging Het
Hspe1 T A 1: 55,129,860 (GRCm39) probably null Het
Il6ra A G 3: 89,794,436 (GRCm39) V175A probably 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
Marchf10 T C 11: 105,273,063 (GRCm39) E692G probably damaging Het
Mars1 G A 10: 127,132,429 (GRCm39) T856M 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
Nek5 T A 8: 22,597,737 (GRCm39) M281L probably benign Het
Or2y15 T A 11: 49,351,039 (GRCm39) C178S 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
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pcdhgb5 T A 18: 37,865,752 (GRCm39) F516I probably damaging Het
Pds5b T A 5: 150,646,713 (GRCm39) N167K possibly damaging Het
Pepd G A 7: 34,668,968 (GRCm39) R196H probably damaging Het
Pla2g4e A T 2: 120,013,219 (GRCm39) M367K probably benign Het
Prdm4 A G 10: 85,746,085 (GRCm39) probably null 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
Ryr2 T A 13: 11,695,885 (GRCm39) H2994L probably damaging Het
Safb2 T C 17: 56,870,226 (GRCm39) H950R possibly damaging Het
Serpina3k A T 12: 104,306,981 (GRCm39) N71I probably 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
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
Smc4 T C 3: 68,935,224 (GRCm39) V771A probably benign Het
Snapc4 A G 2: 26,268,563 (GRCm39) S33P probably benign Het
Tcte1 T C 17: 45,844,215 (GRCm39) S64P possibly damaging Het
Thsd7a G T 6: 12,471,103 (GRCm39) S505* probably null Het
Tjp3 T A 10: 81,116,951 (GRCm39) R193* probably null Het
Tm7sf2 A T 19: 6,117,230 (GRCm39) W58R probably damaging Het
Top3a T C 11: 60,640,234 (GRCm39) D488G probably benign 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
Utrn T A 10: 12,377,220 (GRCm39) Y2612F probably benign Het
Vwa3a A G 7: 120,381,623 (GRCm39) N3S probably damaging Het
Zfp382 G A 7: 29,831,054 (GRCm39) probably null 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
R6279: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'- AGATCTTCACTAGCGCTCAC -3'
(R):5'- CGATCTATGCAGTGACTTGGC -3'

Sequencing Primer
(F):5'- ACTCTTTGCTGCACATACTTAAGAC -3'
(R):5'- TGACTTGGCTGAGTGAACAC -3'
Posted On 2018-04-02