Incidental Mutation 'R5958:Ap1s3'
ID 471261
Institutional Source Beutler Lab
Gene Symbol Ap1s3
Ensembl Gene ENSMUSG00000054702
Gene Name adaptor-related protein complex AP-1, sigma 3
Synonyms Jr2, [s]3A
MMRRC Submission 044145-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R5958 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 79584593-79649689 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 79591960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 130 (T130K)
Ref Sequence ENSEMBL: ENSMUSP00000125268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159312] [ENSMUST00000160706] [ENSMUST00000162342]
AlphaFold Q7TN05
Predicted Effect probably benign
Transcript: ENSMUST00000159312
SMART Domains Protein: ENSMUSP00000125119
Gene: ENSMUSG00000054702

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 70 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160706
SMART Domains Protein: ENSMUSP00000125631
Gene: ENSMUSG00000054702

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 81 1.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162342
AA Change: T130K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125268
Gene: ENSMUSG00000054702
AA Change: T130K

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 142 5e-60 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.0%
Validation Efficiency 95% (75/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,030,367 (GRCm39) D616G probably damaging Het
Adam30 A G 3: 98,069,280 (GRCm39) N243S probably damaging Het
Adck1 A G 12: 88,425,822 (GRCm39) I417V probably benign Het
Adcy4 T C 14: 56,016,556 (GRCm39) probably null Het
Ahctf1 A G 1: 179,574,107 (GRCm39) probably benign Het
Apold1 C T 6: 134,960,686 (GRCm39) R47C probably damaging Het
Atp13a5 T C 16: 29,157,860 (GRCm39) K197E probably damaging Het
Camk2d T G 3: 126,573,514 (GRCm39) probably benign Het
Ccin A G 4: 43,983,854 (GRCm39) D87G probably damaging Het
Cdan1 T C 2: 120,554,383 (GRCm39) T889A possibly damaging Het
Cel T A 2: 28,450,957 (GRCm39) Y102F probably damaging Het
Cma1 A C 14: 56,179,113 (GRCm39) *248E probably null Het
Cnbd1 T C 4: 18,862,056 (GRCm39) N378S probably benign Het
Col18a1 T A 10: 76,932,231 (GRCm39) Y533F probably benign Het
Cpb2 T C 14: 75,520,827 (GRCm39) I414T probably damaging Het
Dagla T C 19: 10,225,788 (GRCm39) Y792C probably damaging Het
Dlgap5 T A 14: 47,651,211 (GRCm39) E107D probably damaging Het
Dmtf1 T A 5: 9,172,415 (GRCm39) probably benign Het
Dst A G 1: 34,225,131 (GRCm39) K1682R probably damaging Het
Epyc A T 10: 97,485,704 (GRCm39) H48L probably benign Het
Fam135b A G 15: 71,334,744 (GRCm39) S817P Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Foxk1 T C 5: 142,442,429 (GRCm39) V693A probably benign Het
Fuom A T 7: 139,679,811 (GRCm39) F122I probably damaging Het
Glg1 G T 8: 111,985,736 (GRCm39) H31Q probably benign Het
Gm13199 C T 2: 5,867,065 (GRCm39) probably benign Het
Hdac9 G T 12: 34,423,882 (GRCm39) Q595K probably damaging Het
Homez C T 14: 55,094,298 (GRCm39) R119Q probably benign Het
Ifit3b A G 19: 34,589,142 (GRCm39) H106R probably benign Het
Ift57 C T 16: 49,531,471 (GRCm39) probably benign Het
Itk A T 11: 46,235,682 (GRCm39) probably benign Het
Katnip A G 7: 125,412,807 (GRCm39) K358E probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Klhdc3 A T 17: 46,986,028 (GRCm39) V378D probably benign Het
Klhl14 A G 18: 21,698,592 (GRCm39) I407T probably damaging Het
Meioc A T 11: 102,565,979 (GRCm39) T476S probably benign Het
Olfm3 G A 3: 114,915,955 (GRCm39) V276I probably damaging Het
Or5b24 T C 19: 12,912,411 (GRCm39) F103S probably damaging Het
Pcm1 T C 8: 41,782,016 (GRCm39) L1972P probably damaging Het
Pcsk6 A G 7: 65,693,359 (GRCm39) E3G probably damaging Het
Pctp A G 11: 89,876,945 (GRCm39) S185P probably benign Het
Pik3c2a A G 7: 115,961,799 (GRCm39) L1010S probably damaging Het
Pitpnm3 G T 11: 72,003,193 (GRCm39) probably null Het
Prrc2b A G 2: 32,102,092 (GRCm39) M722V possibly damaging Het
Rad18 T C 6: 112,673,603 (GRCm39) probably benign Het
Senp6 T C 9: 80,049,576 (GRCm39) S1036P probably damaging Het
Slc22a22 C T 15: 57,126,932 (GRCm39) A46T possibly damaging Het
Sox15 C T 11: 69,546,556 (GRCm39) R120C probably damaging Het
Spag6l C A 16: 16,580,885 (GRCm39) probably null Het
Strc T C 2: 121,207,403 (GRCm39) H656R possibly damaging Het
Tanc2 A G 11: 105,731,451 (GRCm39) D409G probably benign Het
Thap11 A G 8: 106,582,696 (GRCm39) H235R probably damaging Het
Thsd7a T A 6: 12,337,261 (GRCm39) Y1252F probably benign Het
Tlr11 T G 14: 50,598,234 (GRCm39) N73K probably damaging Het
Ttll10 T C 4: 156,120,523 (GRCm39) probably null Het
Ubr4 A T 4: 139,182,949 (GRCm39) N445I probably damaging Het
Ugt1a6a C T 1: 88,143,510 (GRCm39) probably benign Het
Urb2 T C 8: 124,756,398 (GRCm39) F702L probably benign Het
Utp14b A T 1: 78,642,659 (GRCm39) K186* probably null Het
Utp14b A T 1: 78,642,660 (GRCm39) K186M probably damaging Het
Vmn2r16 T A 5: 109,510,153 (GRCm39) M512K possibly damaging Het
Vmn2r27 T A 6: 124,208,686 (GRCm39) M20L probably benign Het
Other mutations in Ap1s3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Ap1s3 APN 1 79,601,439 (GRCm39) missense possibly damaging 0.81
IGL02747:Ap1s3 APN 1 79,601,409 (GRCm39) missense probably damaging 0.99
IGL03164:Ap1s3 APN 1 79,602,887 (GRCm39) missense probably damaging 1.00
R2567:Ap1s3 UTSW 1 79,602,921 (GRCm39) missense possibly damaging 0.91
R4647:Ap1s3 UTSW 1 79,591,920 (GRCm39) splice site probably null
R4780:Ap1s3 UTSW 1 79,586,889 (GRCm39) missense probably benign 0.00
R6279:Ap1s3 UTSW 1 79,602,840 (GRCm39) missense probably damaging 1.00
R6300:Ap1s3 UTSW 1 79,602,840 (GRCm39) missense probably damaging 1.00
R6515:Ap1s3 UTSW 1 79,592,044 (GRCm39) missense probably damaging 1.00
R7078:Ap1s3 UTSW 1 79,602,845 (GRCm39) missense probably benign 0.00
R7135:Ap1s3 UTSW 1 79,586,919 (GRCm39) missense probably benign
R7485:Ap1s3 UTSW 1 79,592,018 (GRCm39) missense probably damaging 0.99
R7707:Ap1s3 UTSW 1 79,591,964 (GRCm39) missense probably benign 0.00
R8378:Ap1s3 UTSW 1 79,601,445 (GRCm39) missense probably damaging 1.00
R8897:Ap1s3 UTSW 1 79,601,494 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACAGCAAGTCTCTATTCATTCAC -3'
(R):5'- GCAGATGCCTCTCCTGATTC -3'

Sequencing Primer
(F):5'- GCAGTCCTCAGTGTTAAC -3'
(R):5'- GCAGATGCCTCTCCTGATTCTACTG -3'
Posted On 2017-03-31