Incidental Mutation 'R1597:Ap1s1'
ID 175865
Institutional Source Beutler Lab
Gene Symbol Ap1s1
Ensembl Gene ENSMUSG00000004849
Gene Name adaptor protein complex AP-1, sigma 1
Synonyms AP19
MMRRC Submission 039634-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.286) question?
Stock # R1597 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 137063847-137074962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 137072095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 20 (M20K)
Ref Sequence ENSEMBL: ENSMUSP00000119458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111080] [ENSMUST00000129356] [ENSMUST00000144303] [ENSMUST00000150603]
AlphaFold P61967
Predicted Effect probably benign
Transcript: ENSMUST00000111080
AA Change: M2K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000106709
Gene: ENSMUSG00000004849
AA Change: M2K

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 142 5.6e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129356
AA Change: M20K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119458
Gene: ENSMUSG00000004849
AA Change: M20K

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 19 77 1.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144303
AA Change: M2K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000120895
Gene: ENSMUSG00000004849
AA Change: M2K

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 142 5.2e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150603
AA Change: M35K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115941
Gene: ENSMUSG00000004849
AA Change: M35K

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 34 175 2.4e-64 PFAM
Meta Mutation Damage Score 0.8461 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency 100% (77/77)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 A T 19: 34,229,983 (GRCm39) probably benign Het
Afap1l2 T C 19: 56,902,881 (GRCm39) N748S probably benign Het
Aox1 T A 1: 58,086,326 (GRCm39) I77N probably damaging Het
Atad3a A T 4: 155,835,892 (GRCm39) probably null Het
Atp1b1 G T 1: 164,265,889 (GRCm39) R291S probably damaging Het
Birc7 T C 2: 180,570,974 (GRCm39) V12A possibly damaging Het
Btnl2 T C 17: 34,582,211 (GRCm39) V259A probably damaging Het
Cdh11 A T 8: 103,377,343 (GRCm39) N434K probably benign Het
Cel G T 2: 28,450,479 (GRCm39) probably benign Het
Col10a1 A G 10: 34,271,074 (GRCm39) K349E probably damaging Het
Ddhd2 A G 8: 26,239,768 (GRCm39) V315A probably benign Het
Dnah17 C A 11: 117,994,324 (GRCm39) probably benign Het
Dock2 T C 11: 34,595,474 (GRCm39) T441A probably benign Het
Ermap A T 4: 119,041,152 (GRCm39) I286N probably damaging Het
Fbxl17 T C 17: 63,794,813 (GRCm39) K423R probably damaging Het
Frem2 T C 3: 53,561,940 (GRCm39) T856A probably benign Het
Gas6 T C 8: 13,543,901 (GRCm39) E64G probably damaging Het
Gzma T A 13: 113,232,331 (GRCm39) N190I probably damaging Het
Ifngr1 C T 10: 19,485,090 (GRCm39) T363M probably damaging Het
Itga7 A G 10: 128,782,732 (GRCm39) T690A probably benign Het
Kif15 A G 9: 122,823,074 (GRCm39) E485G probably benign Het
Kif18a A G 2: 109,123,336 (GRCm39) I203M probably damaging Het
Klhl1 A T 14: 96,438,647 (GRCm39) probably null Het
Lrch3 C T 16: 32,770,781 (GRCm39) Q128* probably null Het
Lrriq4 C G 3: 30,705,037 (GRCm39) P355R probably damaging Het
Mcm10 A T 2: 5,003,563 (GRCm39) H551Q probably damaging Het
Mcm3ap T C 10: 76,319,060 (GRCm39) F763L probably damaging Het
Mdc1 T A 17: 36,156,758 (GRCm39) V55E probably damaging Het
Me2 A T 18: 73,931,016 (GRCm39) N92K probably damaging Het
Mtss1 A G 15: 58,815,560 (GRCm39) S667P probably damaging Het
Mup5 A T 4: 61,753,317 (GRCm39) Y15N possibly damaging Het
Mx1 T A 16: 97,256,329 (GRCm39) M197L probably damaging Het
N4bp2 C T 5: 65,964,483 (GRCm39) T844I probably benign Het
Nlrc3 T A 16: 3,781,859 (GRCm39) R517W probably damaging Het
Nos3 A T 5: 24,573,995 (GRCm39) I227F probably damaging Het
Or52a5 A G 7: 103,427,267 (GRCm39) F95S probably benign Het
Pabpc2 A G 18: 39,906,953 (GRCm39) N73D probably damaging Het
Pcdhb18 A G 18: 37,624,820 (GRCm39) R717G probably benign Het
Pcsk5 T A 19: 17,413,964 (GRCm39) M1702L probably benign Het
Plxna2 A C 1: 194,431,614 (GRCm39) probably benign Het
Polr2a A G 11: 69,630,755 (GRCm39) M1221T possibly damaging Het
Polr2b A G 5: 77,473,948 (GRCm39) D384G probably damaging Het
Ppl T A 16: 4,925,438 (GRCm39) H67L probably benign Het
Psmd5 A G 2: 34,757,035 (GRCm39) L63S probably damaging Het
Psme1 A G 14: 55,818,222 (GRCm39) T150A probably damaging Het
Rapgef5 C T 12: 117,621,940 (GRCm39) R33C probably damaging Het
Rela G A 19: 5,695,359 (GRCm39) R295H probably damaging Het
Rpe65 T A 3: 159,320,421 (GRCm39) V326E probably damaging Het
Scn5a C A 9: 119,391,563 (GRCm39) R43L probably damaging Het
Skida1 T C 2: 18,051,143 (GRCm39) probably benign Het
Slc4a4 G A 5: 89,283,587 (GRCm39) A469T probably benign Het
Spaca7 G T 8: 12,630,991 (GRCm39) E48* probably null Het
Syn3 G T 10: 85,970,908 (GRCm39) T238K probably benign Het
Taok1 A G 11: 77,470,626 (GRCm39) S60P probably benign Het
Tecpr1 A G 5: 144,151,128 (GRCm39) I256T probably benign Het
Tenm4 T A 7: 96,552,196 (GRCm39) probably null Het
Tex15 A G 8: 34,061,511 (GRCm39) T588A probably damaging Het
Tgfbi T A 13: 56,780,004 (GRCm39) probably benign Het
Tmem62 G A 2: 120,814,843 (GRCm39) A169T probably benign Het
Tnc A G 4: 63,924,621 (GRCm39) S1026P probably benign Het
Tnik T C 3: 28,658,418 (GRCm39) S568P probably damaging Het
Trpm6 A T 19: 18,804,888 (GRCm39) I947F probably damaging Het
Ttc27 T A 17: 75,170,402 (GRCm39) L832Q possibly damaging Het
U2surp C T 9: 95,363,793 (GRCm39) probably benign Het
Ube4a A T 9: 44,841,064 (GRCm39) D1009E possibly damaging Het
Unc13d T C 11: 115,965,262 (GRCm39) E192G probably benign Het
Vmn2r71 T C 7: 85,273,352 (GRCm39) V722A possibly damaging Het
Zfp386 T C 12: 116,023,709 (GRCm39) S476P probably damaging Het
Zfp644 A T 5: 106,786,199 (GRCm39) V116D probably damaging Het
Zfyve16 T A 13: 92,644,755 (GRCm39) N1149I probably benign 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
R2257:Ap1s1 UTSW 5 137,070,633 (GRCm39) missense possibly damaging 0.94
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'- CCAATAGATGCCTTGGTTCCTCACC -3'
(R):5'- TGGGGACACCCAGCATTGACAG -3'

Sequencing Primer
(F):5'- GGACAGAGTGTCACCTCTTATAGAC -3'
(R):5'- CCAGCATTGACAGCGAGG -3'
Posted On 2014-04-24