Incidental Mutation 'IGL02815:Ap3m1'
ID 360763
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: 0.136) question?
Stock # IGL02815
Quality Score
Status
Chromosome 14
Chromosomal Location 21083810-21102603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21086750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 393 (D393G)
Ref Sequence ENSEMBL: ENSMUSP00000117346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022369] [ENSMUST00000022371] [ENSMUST00000126536] [ENSMUST00000130291] [ENSMUST00000154460] [ENSMUST00000224016]
AlphaFold Q9JKC8
Predicted Effect probably benign
Transcript: ENSMUST00000022369
SMART Domains Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823

DomainStartEndE-ValueType
Pfam:Vinculin 3 485 9e-203 PFAM
Pfam:Vinculin 475 1066 1.7e-301 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000022371
AA Change: D339G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022371
Gene: ENSMUSG00000021824
AA Change: D339G

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 96 1e-23 SMART
Pfam:Adap_comp_sub 111 364 9.1e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122974
Predicted Effect probably benign
Transcript: ENSMUST00000126536
SMART Domains Protein: ENSMUSP00000116046
Gene: ENSMUSG00000021824

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 91 9e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130291
SMART Domains Protein: ENSMUSP00000118259
Gene: ENSMUSG00000021824

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 138 9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131469
Predicted Effect probably damaging
Transcript: ENSMUST00000154460
AA Change: D393G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117346
Gene: ENSMUSG00000021824
AA Change: D393G

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 noncoding transcript
Transcript: ENSMUST00000148886
Predicted Effect probably damaging
Transcript: ENSMUST00000224016
AA Change: D179G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik A T 6: 40,941,729 (GRCm39) I3F probably benign Het
Alms1 G A 6: 85,644,939 (GRCm39) probably null Het
Arfgef3 T A 10: 18,528,299 (GRCm39) I363F probably damaging Het
Col19a1 T A 1: 24,324,332 (GRCm39) probably null Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Dnmt3a G A 12: 3,954,226 (GRCm39) probably null Het
Emc2 T A 15: 43,371,326 (GRCm39) probably benign Het
Epm2aip1 T C 9: 111,102,628 (GRCm39) S534P probably benign Het
Farp2 A C 1: 93,488,007 (GRCm39) N78T probably damaging Het
Fut8 T A 12: 77,411,857 (GRCm39) N106K probably benign Het
Gc A G 5: 89,605,518 (GRCm39) probably null Het
Gemin5 T C 11: 58,037,235 (GRCm39) Y660C probably damaging Het
Gfpt2 T A 11: 49,714,084 (GRCm39) D280E possibly damaging Het
Il16 T C 7: 83,300,249 (GRCm39) E348G probably damaging Het
Ints1 G A 5: 139,741,037 (GRCm39) T1874M probably damaging Het
Klrb1b A G 6: 128,797,937 (GRCm39) L52P probably damaging Het
Lamb3 A T 1: 193,007,863 (GRCm39) probably benign Het
Med17 A C 9: 15,173,563 (GRCm39) M637R probably damaging Het
Myo18b A G 5: 112,957,601 (GRCm39) L1454P probably damaging Het
Mysm1 A T 4: 94,845,285 (GRCm39) probably null Het
Naip5 T C 13: 100,359,239 (GRCm39) T666A probably benign Het
Nbas T A 12: 13,360,267 (GRCm39) S348T probably damaging Het
Pex1 A T 5: 3,686,797 (GRCm39) K1226M probably damaging Het
Pi4ka A G 16: 17,176,753 (GRCm39) probably benign Het
Pigr T A 1: 130,769,558 (GRCm39) V123D probably damaging Het
Pilra G A 5: 137,829,567 (GRCm39) P163S probably benign Het
Plekha4 T C 7: 45,187,836 (GRCm39) S303P probably damaging Het
Prrc2b A G 2: 32,094,265 (GRCm39) E549G probably damaging Het
Ptchd3 C T 11: 121,732,430 (GRCm39) S440L probably benign Het
Rock2 A G 12: 17,016,702 (GRCm39) probably benign Het
Scn1a A G 2: 66,155,202 (GRCm39) S586P probably damaging Het
Slc38a6 T A 12: 73,338,979 (GRCm39) H95Q probably damaging Het
Spata31d1d A T 13: 59,874,678 (GRCm39) N952K possibly damaging Het
Stard10 T A 7: 100,993,205 (GRCm39) C254S probably benign Het
Taar8a A T 10: 23,953,278 (GRCm39) Y294F probably benign Het
Tm7sf3 A T 6: 146,514,971 (GRCm39) probably null Het
Tnfrsf8 A T 4: 145,025,348 (GRCm39) V75D possibly damaging Het
Tor1aip1 C T 1: 155,911,662 (GRCm39) R107H probably damaging Het
Trpc4 C T 3: 54,206,695 (GRCm39) probably benign Het
Unc13c A G 9: 73,447,545 (GRCm39) L1885P possibly damaging Het
Vmn2r9 T C 5: 108,990,856 (GRCm39) D835G possibly damaging Het
Zfp462 A T 4: 55,051,303 (GRCm39) I1172F probably damaging Het
Other mutations in Ap3m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02628:Ap3m1 APN 14 21,095,588 (GRCm39) nonsense probably null
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 2015-12-18