Incidental Mutation 'IGL02850:Ap1s1'
ID 361831
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1s1
Ensembl Gene ENSMUSG00000004849
Gene Name adaptor protein complex AP-1, sigma 1
Synonyms AP19
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.286) question?
Stock # IGL02850
Quality Score
Status
Chromosome 5
Chromosomal Location 137063847-137074962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137070634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 127 (Y127H)
Ref Sequence ENSEMBL: ENSMUSP00000115941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111080] [ENSMUST00000129356] [ENSMUST00000144303] [ENSMUST00000150603]
AlphaFold P61967
Predicted Effect possibly damaging
Transcript: ENSMUST00000111080
AA Change: Y94H

PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106709
Gene: ENSMUSG00000004849
AA Change: Y94H

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: Y94H

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120895
Gene: ENSMUSG00000004849
AA Change: Y94H

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 142 5.2e-65 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000150603
AA Change: Y127H

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115941
Gene: ENSMUSG00000004849
AA Change: Y127H

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 34 175 2.4e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154183
Coding Region Coverage
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,843,993 (GRCm39) Y229C probably damaging Het
Adgrd1 A G 5: 129,192,119 (GRCm39) D63G probably damaging Het
Ahnak A G 19: 8,979,960 (GRCm39) T415A probably benign Het
Antxr2 A G 5: 98,151,937 (GRCm39) V178A probably damaging Het
Bbs2 A T 8: 94,803,710 (GRCm39) M510K probably benign Het
Cbfa2t2 A G 2: 154,377,090 (GRCm39) N591S probably damaging Het
Chd6 T A 2: 160,861,536 (GRCm39) R504* probably null Het
Cnpy3 A G 17: 47,054,217 (GRCm39) probably benign Het
Cntn2 T G 1: 132,446,114 (GRCm39) K824T probably benign Het
Cntnap3 T C 13: 64,905,223 (GRCm39) T853A probably damaging Het
Cog4 G A 8: 111,593,221 (GRCm39) G444D possibly damaging Het
Col18a1 A T 10: 76,932,300 (GRCm39) I510N probably damaging Het
Cxcr5 G A 9: 44,425,403 (GRCm39) R85W probably damaging Het
Cyth3 C A 5: 143,672,259 (GRCm39) T58K probably damaging Het
Dio3 T C 12: 110,245,970 (GRCm39) V102A probably damaging Het
Dmbx1 G A 4: 115,775,204 (GRCm39) R359C probably damaging Het
Fam3d C T 14: 8,361,475 (GRCm38) probably null Het
Fras1 C A 5: 96,926,034 (GRCm39) P3746Q probably damaging Het
Glt1d1 T A 5: 127,721,409 (GRCm39) M32K probably benign Het
Hunk A G 16: 90,229,460 (GRCm39) N31S probably damaging Het
Ints11 T C 4: 155,959,761 (GRCm39) S123P probably benign Het
Izumo2 T C 7: 44,358,339 (GRCm39) L58S probably damaging Het
Izumo4 A G 10: 80,540,032 (GRCm39) probably benign Het
Kcnh7 T A 2: 62,618,029 (GRCm39) K487* probably null Het
Lrp12 T C 15: 39,741,971 (GRCm39) Y248C probably damaging Het
Maco1 T C 4: 134,555,697 (GRCm39) K259E probably benign Het
Map3k4 T C 17: 12,490,801 (GRCm39) D210G probably damaging Het
Mast4 T C 13: 102,890,740 (GRCm39) D1038G probably damaging Het
Noa1 T C 5: 77,442,338 (GRCm39) T651A probably benign Het
Nop2 A C 6: 125,121,048 (GRCm39) K610T possibly damaging Het
Nop2 G T 6: 125,121,033 (GRCm39) G605V probably benign Het
Npvf G A 6: 50,629,670 (GRCm39) R107W probably benign Het
Or10ad1b A G 15: 98,125,232 (GRCm39) V98A probably benign Het
Or2h2c T C 17: 37,422,865 (GRCm39) N3S probably benign Het
Oxr1 A G 15: 41,718,329 (GRCm39) T775A probably damaging Het
P2ry13 C T 3: 59,117,029 (GRCm39) A250T probably damaging Het
Pcsk9 A T 4: 106,316,062 (GRCm39) V127E probably damaging Het
Piezo2 G A 18: 63,153,704 (GRCm39) S2547F probably benign Het
Pinx1 A G 14: 64,156,609 (GRCm39) T179A probably damaging Het
Pjvk T C 2: 76,488,795 (GRCm39) V322A possibly damaging Het
Pla2r1 T A 2: 60,332,413 (GRCm39) R476S probably benign Het
Polb A G 8: 23,138,277 (GRCm39) probably benign Het
Polg2 C T 11: 106,659,293 (GRCm39) D407N probably damaging Het
Pou5f2 G A 13: 78,173,178 (GRCm39) R40Q probably benign Het
Sctr T C 1: 119,972,393 (GRCm39) M193T possibly damaging Het
Sctr T A 1: 119,949,909 (GRCm39) C33S probably damaging Het
Sema5b T C 16: 35,480,885 (GRCm39) S819P probably benign Het
Setd1b C T 5: 123,286,652 (GRCm39) T566I unknown Het
Sptbn4 G A 7: 27,126,258 (GRCm39) R222C possibly damaging Het
Taf5l A G 8: 124,730,197 (GRCm39) V129A possibly damaging Het
Tmem163 C T 1: 127,427,984 (GRCm39) V201I probably benign Het
Ube3b T C 5: 114,544,310 (GRCm39) L569P probably damaging Het
Vwa3a A G 7: 120,372,515 (GRCm39) E301G probably benign Het
Wnk1 T C 6: 119,914,823 (GRCm39) I1660V probably benign Het
Zbtb22 T A 17: 34,135,987 (GRCm39) L44Q probably damaging Het
Zfp691 T C 4: 119,027,389 (GRCm39) D281G probably damaging Het
Zfy2 C T Y: 2,106,894 (GRCm39) G580D probably benign Het
Zfy2 T A Y: 2,117,188 (GRCm39) H213L 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
R1597:Ap1s1 UTSW 5 137,072,095 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-12-18