Incidental Mutation 'IGL01095:Ap1s1'
ID51091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1s1
Ensembl Gene ENSMUSG00000004849
Gene Nameadaptor protein complex AP-1, sigma 1
SynonymsAP19
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #IGL01095
Quality Score
Status
Chromosome5
Chromosomal Location137034993-137046135 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 137041809 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 117 (I117T)
Ref Sequence ENSEMBL: ENSMUSP00000115941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111080] [ENSMUST00000129356] [ENSMUST00000144303] [ENSMUST00000150603]
Predicted Effect probably damaging
Transcript: ENSMUST00000111080
AA Change: I84T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106709
Gene: ENSMUSG00000004849
AA Change: I84T

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 damaging
Transcript: ENSMUST00000144303
AA Change: I84T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120895
Gene: ENSMUSG00000004849
AA Change: I84T

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 142 5.2e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150603
AA Change: I117T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115941
Gene: ENSMUSG00000004849
AA Change: I117T

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 A G 7: 139,845,654 T28A possibly damaging Het
Aldh8a1 A G 10: 21,389,281 E269G probably benign Het
Alkbh7 A G 17: 56,997,470 probably null Het
Ap1g2 T C 14: 55,105,114 T129A probably benign Het
Brca1 G A 11: 101,524,369 P119S possibly damaging Het
Chid1 A G 7: 141,530,229 V62A probably damaging Het
Cpa1 A T 6: 30,642,969 I299F probably benign Het
Cuzd1 A G 7: 131,316,136 V245A probably damaging Het
Ddx39b T C 17: 35,246,961 S71P probably benign Het
Ddx42 A G 11: 106,247,499 Y708C probably damaging Het
Dnah3 C A 7: 119,951,597 L3166F probably benign Het
Erap1 A G 13: 74,668,094 E114G probably benign Het
Fap G A 2: 62,524,201 T448I possibly damaging Het
Fhl2 A T 1: 43,131,681 Y158N probably benign Het
Fscb A G 12: 64,473,381 V437A possibly damaging Het
Gm5346 T A 8: 43,626,096 I364L probably benign Het
Il18 A T 9: 50,579,329 D88V probably damaging Het
Il5ra A T 6: 106,742,644 probably benign Het
Jakmip3 A T 7: 139,020,817 Q302L probably damaging Het
Lrp2 A T 2: 69,492,432 Y1857* probably null Het
Meis2 T C 2: 115,864,424 T406A probably benign Het
Mre11a T A 9: 14,809,824 S346R probably benign Het
Myh15 A T 16: 49,132,015 K816M probably damaging Het
Mysm1 C T 4: 94,967,869 probably null Het
Nyap1 C A 5: 137,738,084 R47L probably damaging Het
Oas3 A G 5: 120,772,889 Y209H probably damaging Het
Olfr1279 A G 2: 111,306,621 R139G probably benign Het
Olfr1396 T G 11: 49,112,853 Y291S probably damaging Het
Olfr799 A G 10: 129,647,629 D167G probably benign Het
Olfr901 A G 9: 38,430,515 I78V probably benign Het
Olfr974 T C 9: 39,942,680 V140A probably benign Het
Pde4b T C 4: 102,506,044 probably null Het
Psd3 G A 8: 67,908,513 T99M probably damaging Het
R3hcc1 T C 14: 69,700,028 E390G probably damaging Het
Rabgap1l A C 1: 160,738,969 C58W probably benign Het
Rasd1 A G 11: 59,964,291 I121T probably damaging Het
Spta1 A G 1: 174,213,485 N1284D probably benign Het
Tpr T C 1: 150,410,140 V525A possibly damaging Het
Other mutations in Ap1s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Ap1s1 APN 5 137041804 nonsense probably null
IGL02661:Ap1s1 APN 5 137037473 missense probably benign 0.01
IGL02850:Ap1s1 APN 5 137041780 missense possibly damaging 0.91
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 On2013-06-21