Incidental Mutation 'IGL02628:Ap3m1'
ID 301175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap3m1
Ensembl Gene ENSMUSG00000021824
Gene Name adaptor-related protein complex 3, mu 1 subunit
Synonyms C78982, 1200013D09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL02628
Quality Score
Status
Chromosome 14
Chromosomal Location 21083810-21102603 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 21095588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 81 (E81*)
Ref Sequence ENSEMBL: ENSMUSP00000117346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022371] [ENSMUST00000126536] [ENSMUST00000130291] [ENSMUST00000130370] [ENSMUST00000154460] [ENSMUST00000224016]
AlphaFold Q9JKC8
Predicted Effect probably null
Transcript: ENSMUST00000022371
AA Change: E81*
SMART Domains Protein: ENSMUSP00000022371
Gene: ENSMUSG00000021824
AA Change: E81*

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 96 1e-23 SMART
Pfam:Adap_comp_sub 111 364 9.1e-77 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000126536
AA Change: E81*
SMART Domains Protein: ENSMUSP00000116046
Gene: ENSMUSG00000021824
AA Change: E81*

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 91 9e-22 SMART
Predicted Effect probably null
Transcript: ENSMUST00000130291
AA Change: E81*
SMART Domains Protein: ENSMUSP00000118259
Gene: ENSMUSG00000021824
AA Change: E81*

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 138 9e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000130370
AA Change: E81*
SMART Domains Protein: ENSMUSP00000115157
Gene: ENSMUSG00000021824
AA Change: E81*

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 138 1.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148886
Predicted Effect probably null
Transcript: ENSMUST00000154460
AA Change: E81*
SMART Domains Protein: ENSMUSP00000117346
Gene: ENSMUSG00000021824
AA Change: E81*

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 136 1.8e-8 PFAM
Pfam:Adap_comp_sub 165 418 1e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156716
Predicted Effect probably benign
Transcript: ENSMUST00000224016
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 the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 T A 12: 71,001,430 (GRCm39) probably null Het
Ankhd1 T C 18: 36,780,756 (GRCm39) V1936A probably benign Het
Camkk1 T C 11: 72,919,995 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cmc1 A G 9: 117,894,376 (GRCm39) Y33H probably damaging Het
Cntnap5b A T 1: 99,999,794 (GRCm39) D184V probably damaging Het
F5 A T 1: 164,021,644 (GRCm39) D1373V probably damaging Het
Fam169a T C 13: 97,247,796 (GRCm39) probably benign Het
Fem1c G A 18: 46,639,019 (GRCm39) R328W probably damaging Het
Gba2 T C 4: 43,568,919 (GRCm39) R579G probably benign Het
Gm42641 G A 9: 108,887,698 (GRCm39) Q98* probably null Het
Hsd17b7 A G 1: 169,792,058 (GRCm39) F117L possibly damaging Het
Itsn1 A G 16: 91,696,511 (GRCm39) D38G possibly damaging Het
Map1a T C 2: 121,130,585 (GRCm39) I467T probably damaging Het
Map2k4 T A 11: 65,581,567 (GRCm39) I382F possibly damaging Het
Myh1 T G 11: 67,097,088 (GRCm39) probably benign Het
Nr1h4 C T 10: 89,309,701 (GRCm39) A339T probably damaging Het
Opn4 T A 14: 34,315,014 (GRCm39) T420S probably benign Het
Or5h22 A C 16: 58,895,155 (GRCm39) M96R probably benign Het
Or6n1 A G 1: 173,916,756 (GRCm39) Y50C probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Slc17a3 T A 13: 24,026,434 (GRCm39) M1K probably null Het
T T A 17: 8,654,190 (GRCm39) I125N probably damaging Het
Tns2 T A 15: 102,020,263 (GRCm39) S710T probably benign Het
Trav3-1 T A 14: 52,818,551 (GRCm39) V75E probably benign Het
U2surp A G 9: 95,354,143 (GRCm39) Y832H possibly damaging Het
Zng1 T A 19: 24,935,269 (GRCm39) E78D probably damaging Het
Other mutations in Ap3m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02815:Ap3m1 APN 14 21,086,750 (GRCm39) missense probably damaging 1.00
R0268:Ap3m1 UTSW 14 21,087,170 (GRCm39) splice site probably benign
R1780:Ap3m1 UTSW 14 21,091,138 (GRCm39) missense probably benign 0.20
R1961:Ap3m1 UTSW 14 21,091,083 (GRCm39) missense probably damaging 1.00
R2029:Ap3m1 UTSW 14 21,089,217 (GRCm39) missense possibly damaging 0.94
R3903:Ap3m1 UTSW 14 21,086,732 (GRCm39) missense probably null 1.00
R4837:Ap3m1 UTSW 14 21,087,225 (GRCm39) missense probably damaging 1.00
R4952:Ap3m1 UTSW 14 21,090,134 (GRCm39) missense probably benign 0.00
R5050:Ap3m1 UTSW 14 21,094,843 (GRCm39) missense probably benign 0.00
R5741:Ap3m1 UTSW 14 21,095,788 (GRCm39) missense possibly damaging 0.95
R6761:Ap3m1 UTSW 14 21,088,096 (GRCm39) missense probably benign
R7394:Ap3m1 UTSW 14 21,088,147 (GRCm39) missense probably benign 0.00
R7487:Ap3m1 UTSW 14 21,088,107 (GRCm39) missense probably benign
R7640:Ap3m1 UTSW 14 21,088,243 (GRCm39) missense probably benign 0.03
R9156:Ap3m1 UTSW 14 21,090,152 (GRCm39) missense probably damaging 0.99
R9331:Ap3m1 UTSW 14 21,095,666 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16