Incidental Mutation 'IGL02850:Ap1s1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1s1
Ensembl Gene ENSMUSG00000004849
Gene Nameadaptor protein complex AP-1, sigma 1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #IGL02850
Quality Score
Chromosomal Location137034993-137046135 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 137041780 bp
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]
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

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

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

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

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
Adgrd1 A G 5: 129,115,055 D63G probably damaging Het
Ahnak A G 19: 9,002,596 T415A probably benign Het
Antxr2 A G 5: 98,004,078 V178A probably damaging Het
Bbs2 A T 8: 94,077,082 M510K probably benign Het
C130079G13Rik A G 3: 59,936,572 Y229C probably damaging Het
Cbfa2t2 A G 2: 154,535,170 N591S probably damaging Het
Chd6 T A 2: 161,019,616 R504* probably null Het
Cnpy3 A G 17: 46,743,291 probably benign Het
Cntn2 T G 1: 132,518,376 K824T probably benign Het
Cntnap3 T C 13: 64,757,409 T853A probably damaging Het
Cog4 G A 8: 110,866,589 G444D possibly damaging Het
Col18a1 A T 10: 77,096,466 I510N probably damaging Het
Cxcr5 G A 9: 44,514,106 R85W probably damaging Het
Cyth3 C A 5: 143,686,504 T58K probably damaging Het
Dio3 T C 12: 110,279,536 V102A probably damaging Het
Dmbx1 G A 4: 115,918,007 R359C probably damaging Het
Fras1 C A 5: 96,778,175 P3746Q probably damaging Het
Glt1d1 T A 5: 127,644,345 M32K probably benign Het
Hunk A G 16: 90,432,572 N31S probably damaging Het
Ints11 T C 4: 155,875,304 S123P probably benign Het
Izumo2 T C 7: 44,708,915 L58S probably damaging Het
Izumo4 A G 10: 80,704,198 probably benign Het
Kcnh7 T A 2: 62,787,685 K487* probably null Het
Lrp12 T C 15: 39,878,575 Y248C probably damaging Het
Map3k4 T C 17: 12,271,914 D210G probably damaging Het
Mast4 T C 13: 102,754,232 D1038G probably damaging Het
Noa1 T C 5: 77,294,491 T651A probably benign Het
Nop2 G T 6: 125,144,070 G605V probably benign Het
Nop2 A C 6: 125,144,085 K610T possibly damaging Het
Npvf G A 6: 50,652,690 R107W probably benign Het
Oit1 C T 14: 8,361,475 probably null Het
Olfr286 A G 15: 98,227,351 V98A probably benign Het
Olfr92 T C 17: 37,111,973 N3S probably benign Het
Oxr1 A G 15: 41,854,933 T775A probably damaging Het
P2ry13 C T 3: 59,209,608 A250T probably damaging Het
Pcsk9 A T 4: 106,458,865 V127E probably damaging Het
Piezo2 G A 18: 63,020,633 S2547F probably benign Het
Pinx1 A G 14: 63,919,160 T179A probably damaging Het
Pjvk T C 2: 76,658,451 V322A possibly damaging Het
Pla2r1 T A 2: 60,502,069 R476S probably benign Het
Polb A G 8: 22,648,261 probably benign Het
Polg2 C T 11: 106,768,467 D407N probably damaging Het
Pou5f2 G A 13: 78,025,059 R40Q probably benign Het
Sctr T C 1: 120,044,663 M193T possibly damaging Het
Sctr T A 1: 120,022,179 C33S probably damaging Het
Sema5b T C 16: 35,660,515 S819P probably benign Het
Setd1b C T 5: 123,148,589 T566I unknown Het
Sptbn4 G A 7: 27,426,833 R222C possibly damaging Het
Taf5l A G 8: 124,003,458 V129A possibly damaging Het
Tmem163 C T 1: 127,500,247 V201I probably benign Het
Tmem57 T C 4: 134,828,386 K259E probably benign Het
Ube3b T C 5: 114,406,249 L569P probably damaging Het
Vwa3a A G 7: 120,773,292 E301G probably benign Het
Wnk1 T C 6: 119,937,862 I1660V probably benign Het
Zbtb22 T A 17: 33,917,013 L44Q probably damaging Het
Zfp691 T C 4: 119,170,192 D281G probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign Het
Other mutations in Ap1s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Ap1s1 APN 5 137041809 missense probably damaging 1.00
IGL01621:Ap1s1 APN 5 137041804 nonsense probably null
IGL02661:Ap1s1 APN 5 137037473 missense probably benign 0.01
R1597:Ap1s1 UTSW 5 137043241 missense probably damaging 0.99
R2257:Ap1s1 UTSW 5 137041779 missense possibly damaging 0.94
R2964:Ap1s1 UTSW 5 137037503 missense probably damaging 1.00
R2966:Ap1s1 UTSW 5 137037503 missense probably damaging 1.00
R5690:Ap1s1 UTSW 5 137037379 unclassified probably benign
R6164:Ap1s1 UTSW 5 137037386 unclassified probably benign
R7650:Ap1s1 UTSW 5 137045533 missense probably benign
Z1176:Ap1s1 UTSW 5 137037470 missense probably damaging 1.00
Z1177:Ap1s1 UTSW 5 137045233 intron probably benign
Posted On2015-12-18