Incidental Mutation 'R6250:Ap3s1'
ID 505941
Institutional Source Beutler Lab
Gene Symbol Ap3s1
Ensembl Gene ENSMUSG00000024480
Gene Name adaptor-related protein complex 3, sigma 1 subunit
Synonyms [s]3A
MMRRC Submission 044367-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6250 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 46874943-46923893 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46887514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 49 (F49S)
Ref Sequence ENSEMBL: ENSMUSP00000153290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025357] [ENSMUST00000224622] [ENSMUST00000225415] [ENSMUST00000225520] [ENSMUST00000226108]
AlphaFold Q9DCR2
Predicted Effect probably damaging
Transcript: ENSMUST00000025357
AA Change: F49S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025357
Gene: ENSMUSG00000024480
AA Change: F49S

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 148 1.4e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000224622
AA Change: F49S

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000225415
AA Change: F49S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225520
AA Change: F49S

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226108
AA Change: F49S

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.9465 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 98% (60/61)
MGI Phenotype FUNCTION: This gene encodes the sigma subunit of the heterotetrameric adaptor protein complex AP-3 which is involved in the formation of specialized lysosome-related compartments such as melanosomes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on chromosomes 1, 8, 16, 17 and X. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 T C 2: 150,681,667 (GRCm39) Y241C probably damaging Het
Ak9 T C 10: 41,265,030 (GRCm39) V929A possibly damaging Het
Atp9b T C 18: 80,799,736 (GRCm39) H801R probably benign Het
B430218F22Rik A G 13: 118,523,944 (GRCm39) probably benign Het
Ccnd3 T A 17: 47,908,487 (GRCm39) L186* probably null Het
Cnbd1 T A 4: 19,098,255 (GRCm39) Q55L probably benign Het
Commd10 A G 18: 47,096,755 (GRCm39) E54G probably damaging Het
Cplx3 A G 9: 57,522,907 (GRCm39) V151A probably benign Het
D6Ertd527e G A 6: 87,088,194 (GRCm39) G119D unknown Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Disp2 A T 2: 118,621,247 (GRCm39) I660F probably damaging Het
Eef1a2 A G 2: 180,792,853 (GRCm39) F211L possibly damaging Het
Epb41 A T 4: 131,717,184 (GRCm39) F323L probably damaging Het
Eps8l3 A T 3: 107,797,781 (GRCm39) I403F probably benign Het
Ercc5 T A 1: 44,203,209 (GRCm39) V282D probably damaging Het
Faim A T 9: 98,874,176 (GRCm39) M1L probably benign Het
Fbxo24 A G 5: 137,619,543 (GRCm39) F111L probably damaging Het
Fcgbpl1 G A 7: 27,850,139 (GRCm39) G1195D probably damaging Het
Glrx A T 13: 75,988,229 (GRCm39) I48F probably damaging Het
Gucy2g A T 19: 55,205,856 (GRCm39) L668Q probably damaging Het
Hectd4 A G 5: 121,477,561 (GRCm39) D2828G possibly damaging Het
Hivep2 T C 10: 14,007,503 (GRCm39) V1367A probably benign Het
Hrob A G 11: 102,145,888 (GRCm39) T55A probably benign Het
Ipo13 A G 4: 117,769,351 (GRCm39) V147A possibly damaging Het
Jchain T C 5: 88,674,034 (GRCm39) T37A probably benign Het
Kif1b A G 4: 149,298,100 (GRCm39) V1034A probably benign Het
Krt25 T A 11: 99,211,989 (GRCm39) N216I probably damaging Het
Mfsd4b1 T C 10: 39,879,106 (GRCm39) S264G possibly damaging Het
Mxra8 G T 4: 155,925,546 (GRCm39) R82L possibly damaging Het
Nlrp1b A T 11: 71,072,625 (GRCm39) I406N probably benign Het
Or13c7 T C 4: 43,854,363 (GRCm39) L18P possibly damaging Het
Or2y11 A T 11: 49,442,711 (GRCm39) I46F probably damaging Het
Or5h23 G A 16: 58,906,195 (GRCm39) S217F probably damaging Het
Pak5 T C 2: 136,016,189 (GRCm39) probably benign Het
Pcsk4 T C 10: 80,161,426 (GRCm39) R222G probably benign Het
Pik3cb A C 9: 98,976,651 (GRCm39) F149V probably benign Het
Plscr4 G A 9: 92,366,881 (GRCm39) R165Q possibly damaging Het
Ppp2r2a A T 14: 67,276,403 (GRCm39) V34E probably damaging Het
Prpf8 T G 11: 75,384,334 (GRCm39) S659R possibly damaging Het
Ptprd A G 4: 76,047,232 (GRCm39) S342P probably damaging Het
Pum2 T C 12: 8,794,755 (GRCm39) probably null Het
Ranbp3 T G 17: 56,984,208 (GRCm39) probably null Het
Rassf7 A G 7: 140,797,156 (GRCm39) E123G probably damaging Het
Rcor1 G T 12: 111,078,311 (GRCm39) A469S probably benign Het
Rcor3 G T 1: 191,785,196 (GRCm39) P524Q probably damaging Het
Rnf44 A T 13: 54,829,920 (GRCm39) probably null Het
Rtf1 T C 2: 119,505,658 (GRCm39) V37A unknown Het
Sdc4 A T 2: 164,273,138 (GRCm39) D57E probably damaging Het
Setbp1 T C 18: 78,901,217 (GRCm39) T817A probably benign Het
Setd1a A G 7: 127,390,471 (GRCm39) E506G unknown Het
Slc30a8 G A 15: 52,198,545 (GRCm39) R330Q probably benign Het
Snx22 C A 9: 65,976,923 (GRCm39) E14* probably null Het
Spata31d1a A G 13: 59,849,615 (GRCm39) S838P possibly damaging Het
Sprr4 G T 3: 92,407,770 (GRCm39) Q11K unknown Het
Trpm3 A G 19: 22,887,418 (GRCm39) N839S probably benign Het
Vps9d1 T C 8: 123,974,947 (GRCm39) probably null Het
Vwa3b T C 1: 37,090,966 (GRCm39) probably null Het
Ythdf1 T C 2: 180,552,893 (GRCm39) T414A probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Other mutations in Ap3s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0087:Ap3s1 UTSW 18 46,891,106 (GRCm39) missense probably damaging 1.00
R0410:Ap3s1 UTSW 18 46,912,279 (GRCm39) missense probably benign 0.02
R2102:Ap3s1 UTSW 18 46,887,469 (GRCm39) missense possibly damaging 0.88
R4234:Ap3s1 UTSW 18 46,912,267 (GRCm39) missense probably benign 0.28
R4500:Ap3s1 UTSW 18 46,923,067 (GRCm39) missense possibly damaging 0.47
R4894:Ap3s1 UTSW 18 46,891,183 (GRCm39) critical splice donor site probably null
R5081:Ap3s1 UTSW 18 46,887,497 (GRCm39) missense probably benign 0.01
R6063:Ap3s1 UTSW 18 46,887,505 (GRCm39) missense probably benign 0.02
R6209:Ap3s1 UTSW 18 46,912,318 (GRCm39) missense probably benign 0.00
R6401:Ap3s1 UTSW 18 46,891,074 (GRCm39) missense probably benign 0.00
R6575:Ap3s1 UTSW 18 46,887,448 (GRCm39) missense probably benign 0.00
R9413:Ap3s1 UTSW 18 46,887,531 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCTTCGGCCAGAATTTTCCAG -3'
(R):5'- GCAACATGCAAATGAACATTAAGTG -3'

Sequencing Primer
(F):5'- TCCTTCCTCAGAGTGAAG -3'
(R):5'- GCAAATGAACATTAAGTGTGATCTC -3'
Posted On 2018-02-28