Incidental Mutation 'R4234:Ap3s1'
ID 321036
Institutional Source Beutler Lab
Gene Symbol Ap3s1
Ensembl Gene ENSMUSG00000024480
Gene Name adaptor-related protein complex 3, sigma 1 subunit
Synonyms [s]3A
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4234 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 46874943-46923893 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46912267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 96 (T96S)
Ref Sequence ENSEMBL: ENSMUSP00000153510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025357] [ENSMUST00000224622] [ENSMUST00000225415] [ENSMUST00000225520] [ENSMUST00000226108]
AlphaFold Q9DCR2
Predicted Effect probably benign
Transcript: ENSMUST00000025357
AA Change: T96S

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000025357
Gene: ENSMUSG00000024480
AA Change: T96S

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 148 1.4e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224622
AA Change: T96S

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000225415
Predicted Effect probably benign
Transcript: ENSMUST00000225520
AA Change: T96S

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000226108
AA Change: T96S

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ahnak A T 19: 8,978,150 (GRCm39) K90* probably null Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Aspg T A 12: 112,089,750 (GRCm39) Y429* probably null Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
BC034090 C T 1: 155,117,326 (GRCm39) G264D probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cerk T C 15: 86,026,989 (GRCm39) K174E probably benign Het
Col19a1 T C 1: 24,354,476 (GRCm39) probably null Het
Cyp2c23 G T 19: 44,017,604 (GRCm39) T8K unknown Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dok4 T C 8: 95,592,292 (GRCm39) E232G probably damaging Het
Dpf1 T C 7: 29,015,057 (GRCm39) S304P probably damaging Het
Dpyd T A 3: 119,225,233 (GRCm39) I1002N probably damaging Het
Fam107b T C 2: 3,771,777 (GRCm39) S3P possibly damaging Het
Gm1527 G A 3: 28,968,515 (GRCm39) G189D probably damaging Het
Hspa12b T C 2: 130,980,932 (GRCm39) V162A probably benign Het
Lix1l T A 3: 96,530,973 (GRCm39) probably null Het
Mdc1 T C 17: 36,159,716 (GRCm39) C658R probably benign Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Myh15 G T 16: 48,983,405 (GRCm39) V1507L probably benign Het
Nfe2l1 T C 11: 96,710,735 (GRCm39) D210G probably damaging Het
Notch3 T A 17: 32,360,315 (GRCm39) I1539F probably damaging Het
Pcdhac1 A C 18: 37,224,011 (GRCm39) S275R probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rbbp5 A G 1: 132,412,496 (GRCm39) T20A probably benign Het
Rere T C 4: 150,701,862 (GRCm39) V1414A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr3 G T 2: 112,740,752 (GRCm39) N538K probably damaging Het
Serpina3j C A 12: 104,281,445 (GRCm39) T206K probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc27a5 C A 7: 12,722,370 (GRCm39) C416F probably benign Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tex30 A T 1: 44,130,672 (GRCm39) I32K possibly damaging Het
Trpc2 T C 7: 101,737,342 (GRCm39) I752T possibly damaging Het
Wnk2 A G 13: 49,214,604 (GRCm39) V1314A 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
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
R6250:Ap3s1 UTSW 18 46,887,514 (GRCm39) missense probably damaging 1.00
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'- CCTGAGGAGGCCTTATGTGAATG -3'
(R):5'- AAGCACAGTGGCCTGATTC -3'

Sequencing Primer
(F):5'- AGGAGGCCTTATGTGAATGTTTAAG -3'
(R):5'- GTGGCCTGATTCATGGTAAAAATAAC -3'
Posted On 2015-06-12