Incidental Mutation 'R5050:Ap3m1'
ID 394610
Institutional Source Beutler Lab
Gene Symbol Ap3m1
Ensembl Gene ENSMUSG00000021824
Gene Name adaptor-related protein complex 3, mu 1 subunit
Synonyms C78982, 1200013D09Rik
MMRRC Submission 042640-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R5050 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 21083810-21102603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21094843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 108 (I108T)
Ref Sequence ENSEMBL: ENSMUSP00000117346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022371] [ENSMUST00000126536] [ENSMUST00000130291] [ENSMUST00000130370] [ENSMUST00000154460] [ENSMUST00000224016]
AlphaFold Q9JKC8
Predicted Effect probably benign
Transcript: ENSMUST00000022371
SMART Domains Protein: ENSMUSP00000022371
Gene: ENSMUSG00000021824

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 96 1e-23 SMART
Pfam:Adap_comp_sub 111 364 9.1e-77 PFAM
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
AA Change: I108T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118259
Gene: ENSMUSG00000021824
AA Change: I108T

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 138 9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130370
AA Change: I108T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115157
Gene: ENSMUSG00000021824
AA Change: I108T

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 138 1.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148886
Predicted Effect probably benign
Transcript: ENSMUST00000154460
AA Change: I108T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000117346
Gene: ENSMUSG00000021824
AA Change: I108T

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
Meta Mutation Damage Score 0.0617 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 100% (69/69)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,989,822 (GRCm39) probably benign Het
Apobec1 T C 6: 122,568,061 (GRCm39) M1V probably null Het
Aqr A T 2: 113,943,090 (GRCm39) L1161* probably null Het
Aqr A T 2: 114,000,506 (GRCm39) probably null Het
Arhgef37 A G 18: 61,637,402 (GRCm39) I420T probably benign Het
Cacna1g C T 11: 94,350,541 (GRCm39) E435K probably damaging Het
Card6 G T 15: 5,129,858 (GRCm39) H513N probably benign Het
Ccdc158 A C 5: 92,814,738 (GRCm39) F29L probably benign Het
Ccr6 T C 17: 8,474,936 (GRCm39) L47S probably damaging Het
Cdc42bpa T A 1: 179,900,018 (GRCm39) Y444* probably null Het
Cdh17 A G 4: 11,784,654 (GRCm39) Y270C probably damaging Het
Cdh9 T C 15: 16,778,233 (GRCm39) F16S probably benign Het
Cdkl1 T C 12: 69,804,014 (GRCm39) K141R probably damaging Het
Cfhr4 T A 1: 139,664,578 (GRCm39) I494F probably damaging Het
Chd4 T C 6: 125,084,443 (GRCm39) Y692H probably damaging Het
Dhrs7 T A 12: 72,704,184 (GRCm39) D104V probably damaging Het
Dhtkd1 A T 2: 5,922,500 (GRCm39) L553Q probably benign Het
Dnah7a T G 1: 53,536,255 (GRCm39) D2596A probably benign Het
Dync1li2 T C 8: 105,164,073 (GRCm39) K151E probably damaging Het
Eno4 C T 19: 58,943,928 (GRCm39) H297Y probably benign Het
Epg5 T A 18: 78,019,156 (GRCm39) D976E possibly damaging Het
Fhip2a T A 19: 57,371,602 (GRCm39) F571L probably damaging Het
Gm4553 C A 7: 141,718,773 (GRCm39) K218N unknown Het
Gpld1 A T 13: 25,146,739 (GRCm39) T234S probably benign Het
Gtpbp6 A T 5: 110,252,567 (GRCm39) probably benign Het
Gucy2g T C 19: 55,229,367 (GRCm39) E101G probably benign Het
Gvin3 T C 7: 106,196,179 (GRCm39) noncoding transcript Het
Hira G A 16: 18,744,609 (GRCm39) R442K possibly damaging Het
Hrh3 A G 2: 179,742,350 (GRCm39) L394P probably damaging Het
Igkv1-110 T A 6: 68,248,176 (GRCm39) F95Y probably damaging Het
Iqgap3 T G 3: 87,997,493 (GRCm39) V223G probably damaging Het
Itpk1 T C 12: 102,671,069 (GRCm39) T3A probably damaging Het
Jag1 A G 2: 136,927,074 (GRCm39) V895A possibly damaging Het
Kazn G A 4: 141,845,514 (GRCm39) probably benign Het
Large2 A T 2: 92,198,124 (GRCm39) L282Q probably benign Het
Lgmn A G 12: 102,369,680 (GRCm39) probably null Het
Lrp4 A T 2: 91,322,767 (GRCm39) I1119F probably benign Het
Map3k19 T C 1: 127,751,299 (GRCm39) H684R probably benign Het
Mier3 C T 13: 111,851,107 (GRCm39) A367V possibly damaging Het
Mpdz A G 4: 81,213,685 (GRCm39) V1579A probably benign Het
Mroh2b A T 15: 4,929,932 (GRCm39) D6V possibly damaging Het
Myh7b A G 2: 155,473,670 (GRCm39) I1568V probably benign Het
Or52e8b T A 7: 104,673,594 (GRCm39) I198F probably damaging Het
Plch2 C T 4: 155,127,766 (GRCm39) probably benign Het
Plek T C 11: 16,945,216 (GRCm39) D38G probably damaging Het
Polr2f A G 15: 79,028,862 (GRCm39) probably benign Het
Samsn1 A G 16: 75,685,645 (GRCm39) S38P probably benign Het
Sf1 C T 19: 6,422,589 (GRCm39) T248I probably damaging Het
Sgms2 C T 3: 131,124,005 (GRCm39) V232M probably benign Het
Sharpin A T 15: 76,232,530 (GRCm39) L160H probably damaging Het
Sympk C T 7: 18,769,967 (GRCm39) R215C probably benign Het
Syn3 T C 10: 86,243,532 (GRCm39) T136A probably benign Het
Tcam1 G A 11: 106,176,278 (GRCm39) V335M possibly damaging Het
Tedc1 G T 12: 113,120,325 (GRCm39) V56L possibly damaging Het
Tenm4 T C 7: 96,544,995 (GRCm39) L2337P probably damaging Het
Ttn G A 2: 76,715,155 (GRCm39) probably benign Het
Tysnd1 T A 10: 61,532,050 (GRCm39) I234N probably damaging Het
Vmn2r51 T C 7: 9,834,349 (GRCm39) K230E probably damaging Het
Other mutations in Ap3m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02628:Ap3m1 APN 14 21,095,588 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- CTGTCATATGAGCAAAATGAGCTG -3'
(R):5'- GCAGATTGATGTCTCAGTACTTTC -3'

Sequencing Primer
(F):5'- GGATCAGTTCCTAGCAGT -3'
(R):5'- GATGTCTCAGTACTTTCTGTCATG -3'
Posted On 2016-06-15