Incidental Mutation 'IGL00795:Ap1m1'
ID12461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1m1
Ensembl Gene ENSMUSG00000003033
Gene Nameadaptor-related protein complex AP-1, mu subunit 1
Synonymsmu1A, [m]1A, Cltnm, AP47, Adtm1A
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00795
Quality Score
Status
Chromosome8
Chromosomal Location72240018-72257385 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 72253509 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 308 (N308S)
Ref Sequence ENSEMBL: ENSMUSP00000003117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003117] [ENSMUST00000126885] [ENSMUST00000145213] [ENSMUST00000212708] [ENSMUST00000212841] [ENSMUST00000212940]
PDB Structure
AP1 CLATHRIN ADAPTOR CORE [X-RAY DIFFRACTION]
HIV-1 Nef in complex with MHC-I cytoplasmic domain and Mu1 adaptin subunit of AP1 adaptor (second domain) [X-RAY DIFFRACTION]
HIV-1 Nef in complex with MHC-I cytoplasmic domain and Mu1 adaptin subunit of AP1 adaptor (second domain) [X-RAY DIFFRACTION]
Structural basis for recruitment and activation of the AP-1 clathrin adaptor complex by Arf1 [X-RAY DIFFRACTION]
Crystal structure of the human BST2 cytoplasmic domain and the HIV-1 Vpu cytoplasmic domain bound to the clathrin adaptor protein complex 1 (AP1) core [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000003117
AA Change: N308S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003117
Gene: ENSMUSG00000003033
AA Change: N308S

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 2 141 4.6e-7 PFAM
Pfam:Adap_comp_sub 157 422 2.5e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126885
SMART Domains Protein: ENSMUSP00000120435
Gene: ENSMUSG00000003033

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 4 115 4.8e-7 PFAM
Pfam:Adap_comp_sub 131 181 6.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145213
SMART Domains Protein: ENSMUSP00000138319
Gene: ENSMUSG00000003033

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 3 107 7e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156735
Predicted Effect probably benign
Transcript: ENSMUST00000212708
Predicted Effect probably benign
Transcript: ENSMUST00000212841
Predicted Effect probably benign
Transcript: ENSMUST00000212940
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the mu-1 subunit of the scaffolding adapter protein complex AP-1 and is a member of the mu adaptin family. The AP-1 complex, which consists of 4 subunits (mu-adaptin, beta-prime adaptin, gamma-adaptin, and the small chain adaptin), is one of the predominant coat proteins of membrane vesicles involved in eukaryotic post-Golgi trafficking. The AP-1 complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. AP-1 complex subunit mu-1 and other mu-adaptins select cargo proteins bearing sequence-specific sorting motifs. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E13.5. Homozygous embryos display hemorrhage of the ventricles and spinal canal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,104,155 R50G probably damaging Het
Bub1 A G 2: 127,821,815 V222A probably benign Het
Ccdc91 G T 6: 147,507,807 D4Y probably damaging Het
Defb21 A G 2: 152,574,745 D47G probably benign Het
Dnah17 C A 11: 118,093,634 C1607F probably benign Het
Fam126b C T 1: 58,552,179 E102K probably damaging Het
Insc T C 7: 114,842,154 L401P probably damaging Het
Kif18a A T 2: 109,293,020 N213I probably damaging Het
Mapre1 A G 2: 153,746,314 D19G probably damaging Het
Mettl8 A T 2: 70,982,090 I32N probably damaging Het
Mroh9 T A 1: 163,060,622 T295S probably damaging Het
Pum3 T A 19: 27,422,358 Y225F probably damaging Het
Tas2r131 G A 6: 132,957,591 T85I possibly damaging Het
Tbcd T G 11: 121,616,932 I1193S probably benign Het
Tgoln1 C T 6: 72,616,252 A82T probably benign Het
Other mutations in Ap1m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Ap1m1 APN 8 72255755 missense possibly damaging 0.53
IGL02165:Ap1m1 APN 8 72249809 missense probably benign 0.41
R0363:Ap1m1 UTSW 8 72252894 missense probably benign 0.22
R0363:Ap1m1 UTSW 8 72256724 unclassified probably benign
R1295:Ap1m1 UTSW 8 72251875 splice site probably null
R1681:Ap1m1 UTSW 8 72256122 missense possibly damaging 0.95
R1784:Ap1m1 UTSW 8 72252849 missense probably benign 0.01
R1934:Ap1m1 UTSW 8 72255793 missense probably damaging 1.00
R4549:Ap1m1 UTSW 8 72240220 missense probably damaging 1.00
R4654:Ap1m1 UTSW 8 72252873 missense possibly damaging 0.94
R6003:Ap1m1 UTSW 8 72249167 missense probably damaging 1.00
R7048:Ap1m1 UTSW 8 72249798 missense probably damaging 1.00
Posted On2012-12-06