Incidental Mutation 'R2257:Ap1s1'
ID 243443
Institutional Source Beutler Lab
Gene Symbol Ap1s1
Ensembl Gene ENSMUSG00000004849
Gene Name adaptor protein complex AP-1, sigma 1
Synonyms AP19
MMRRC Submission 040257-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.244) question?
Stock # R2257 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 137063847-137074962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137070633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 94 (Y94C)
Ref Sequence ENSEMBL: ENSMUSP00000106709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111080] [ENSMUST00000129356] [ENSMUST00000144303] [ENSMUST00000150603]
AlphaFold P61967
PDB Structure AP1 CLATHRIN ADAPTOR CORE [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000111080
AA Change: Y94C

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106709
Gene: ENSMUSG00000004849
AA Change: Y94C

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 142 5.6e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129356
SMART Domains Protein: ENSMUSP00000119458
Gene: ENSMUSG00000004849

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 19 77 1.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144303
AA Change: Y94C

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120895
Gene: ENSMUSG00000004849
AA Change: Y94C

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 142 5.2e-65 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000150603
AA Change: Y127C

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115941
Gene: ENSMUSG00000004849
AA Change: Y127C

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 34 175 2.4e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154183
Meta Mutation Damage Score 0.9375 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 96% (70/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik A T X: 69,438,012 (GRCm39) W94R probably damaging Het
Abcc3 C T 11: 94,254,420 (GRCm39) V693M probably damaging Het
Acp7 A C 7: 28,313,838 (GRCm39) W399G probably damaging Het
Arhgap32 T C 9: 32,158,793 (GRCm39) I186T probably damaging Het
Atg4a A G X: 139,890,984 (GRCm39) I91V probably benign Het
Atp7b T G 8: 22,488,282 (GRCm39) T1102P probably damaging Het
Cabs1 T C 5: 88,128,074 (GRCm39) S242P probably damaging Het
Cass4 T C 2: 172,269,390 (GRCm39) F493L probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cdk14 T A 5: 4,938,924 (GRCm39) M433L probably benign Het
Cep162 C A 9: 87,088,967 (GRCm39) D972Y probably damaging Het
Cfap100 C G 6: 90,390,802 (GRCm39) R184P possibly damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Clasrp A G 7: 19,320,510 (GRCm39) probably benign Het
Copb1 T A 7: 113,853,110 (GRCm39) D29V possibly damaging Het
Cyp2b9 G A 7: 25,873,030 (GRCm39) probably null Het
Dhx36 C T 3: 62,385,064 (GRCm39) G683S probably damaging Het
Dnaaf11 T A 15: 66,309,436 (GRCm39) probably benign Het
Dnah10 T A 5: 124,838,301 (GRCm39) I1110N probably damaging Het
Dnajc3 C G 14: 119,210,114 (GRCm39) P322A probably benign Het
Eml4 A G 17: 83,785,189 (GRCm39) T785A probably damaging Het
Fam228a T C 12: 4,787,775 (GRCm39) probably benign Het
Fam83e A T 7: 45,378,193 (GRCm39) K406* probably null Het
Fam83e A T 7: 45,378,194 (GRCm39) K406M possibly damaging Het
Fam90a1a T A 8: 22,453,533 (GRCm39) L296Q possibly damaging Het
Fat1 A G 8: 45,403,408 (GRCm39) Y53C probably damaging Het
Fcrl2 T C 3: 87,166,928 (GRCm39) I22V probably damaging Het
Fryl T A 5: 73,230,187 (GRCm39) N1657Y possibly damaging Het
Greb1l A G 18: 10,503,307 (GRCm39) M453V possibly damaging Het
Grm8 A T 6: 27,760,224 (GRCm39) C369S probably damaging Het
Hdc G A 2: 126,458,000 (GRCm39) probably null Het
Hsf3 A T X: 95,363,928 (GRCm39) L191* probably null Het
Iqca1l C T 5: 24,757,038 (GRCm39) probably benign Het
Kif4 A T X: 99,769,737 (GRCm39) N1126Y probably benign Het
Lat2 T C 5: 134,631,481 (GRCm39) D191G probably damaging Het
Lipt2 C T 7: 99,808,601 (GRCm39) T38I probably benign Het
Lmo7 T C 14: 102,137,566 (GRCm39) L634P probably damaging Het
Magea2 A T X: 153,810,855 (GRCm39) L243Q probably damaging Het
Mctp2 A G 7: 71,835,568 (GRCm39) L543P probably damaging Het
Mgat4a T C 1: 37,529,394 (GRCm39) N24D probably benign Het
Mical3 A T 6: 121,010,696 (GRCm39) S429T possibly damaging Het
Mrps35 A G 6: 146,972,125 (GRCm39) E256G possibly damaging Het
Mybbp1a T A 11: 72,337,021 (GRCm39) S586T probably benign Het
Myo1e G A 9: 70,285,655 (GRCm39) probably null Het
Nob1 A G 8: 108,143,729 (GRCm39) probably benign Het
Nom1 T A 5: 29,642,750 (GRCm39) V417D probably damaging Het
Nphs1 A T 7: 30,167,417 (GRCm39) I782F possibly damaging Het
Numa1 A G 7: 101,649,998 (GRCm39) E1243G probably damaging Het
Or52e7 A G 7: 104,685,026 (GRCm39) Y207C probably benign Het
Or7g27 A G 9: 19,249,789 (GRCm39) E11G probably benign Het
Padi4 G A 4: 140,487,251 (GRCm39) T217I possibly damaging Het
Pias3 C T 3: 96,606,962 (GRCm39) T75I probably benign Het
Ppp1r37 G T 7: 19,295,943 (GRCm39) probably benign Het
Prrc2a G A 17: 35,380,044 (GRCm39) P185L unknown Het
Prss57 C T 10: 79,623,204 (GRCm39) C81Y probably damaging Het
Psen1 C T 12: 83,761,594 (GRCm39) S132L probably damaging Het
Ranbp6 A G 19: 29,788,949 (GRCm39) S468P possibly damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc2a9 T C 5: 38,610,542 (GRCm39) T86A probably damaging Het
Slco1a6 A T 6: 142,036,742 (GRCm39) M555K probably benign Het
Thoc1 C A 18: 9,993,466 (GRCm39) D608E possibly damaging Het
Tmem121b A T 6: 120,469,030 (GRCm39) Y562* probably null Het
Tmem121b A G 6: 120,469,032 (GRCm39) Y562H probably damaging Het
Tmprss7 A T 16: 45,506,696 (GRCm39) M122K possibly damaging Het
Tmub1 C A 5: 24,651,922 (GRCm39) G14V possibly damaging Het
Uap1 A T 1: 169,986,312 (GRCm39) probably benign Het
Ugdh A T 5: 65,574,458 (GRCm39) probably benign Het
Vmn2r59 A T 7: 41,661,669 (GRCm39) C715* probably null Het
Vps13a G A 19: 16,659,538 (GRCm39) T1663I possibly damaging Het
Vps13c A C 9: 67,860,228 (GRCm39) I2815L possibly damaging Het
Zc3h3 G T 15: 75,711,415 (GRCm39) Q349K possibly damaging Het
Other mutations in Ap1s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Ap1s1 APN 5 137,070,663 (GRCm39) missense probably damaging 1.00
IGL01621:Ap1s1 APN 5 137,070,658 (GRCm39) nonsense probably null
IGL02661:Ap1s1 APN 5 137,066,327 (GRCm39) missense probably benign 0.01
IGL02850:Ap1s1 APN 5 137,070,634 (GRCm39) missense possibly damaging 0.91
R1597:Ap1s1 UTSW 5 137,072,095 (GRCm39) missense probably damaging 0.99
R2964:Ap1s1 UTSW 5 137,066,357 (GRCm39) missense probably damaging 1.00
R2966:Ap1s1 UTSW 5 137,066,357 (GRCm39) missense probably damaging 1.00
R5690:Ap1s1 UTSW 5 137,066,233 (GRCm39) unclassified probably benign
R6164:Ap1s1 UTSW 5 137,066,240 (GRCm39) unclassified probably benign
R7650:Ap1s1 UTSW 5 137,074,387 (GRCm39) missense probably benign
R9530:Ap1s1 UTSW 5 137,064,612 (GRCm39) missense probably benign
Z1176:Ap1s1 UTSW 5 137,066,324 (GRCm39) missense probably damaging 1.00
Z1177:Ap1s1 UTSW 5 137,074,087 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- CATGCCAGAGCTCTACTGAC -3'
(R):5'- GTCAGTGTACAGTCAGAGGAC -3'

Sequencing Primer
(F):5'- GAGCTCTACTGACTGAGGCATAC -3'
(R):5'- AGGACCTCCTGCTAGTGG -3'
Posted On 2014-10-16