Incidental Mutation 'R9113:Alox5ap'
ID 692350
Institutional Source Beutler Lab
Gene Symbol Alox5ap
Ensembl Gene ENSMUSG00000060063
Gene Name arachidonate 5-lipoxygenase activating protein
Synonyms arachidonate 5 lipoxygenase activating protein, Flap
MMRRC Submission 068920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R9113 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 149201814-149224963 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149216015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 67 (F67S)
Ref Sequence ENSEMBL: ENSMUSP00000071130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071130] [ENSMUST00000200806] [ENSMUST00000200928]
AlphaFold P30355
Predicted Effect probably damaging
Transcript: ENSMUST00000071130
AA Change: F67S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071130
Gene: ENSMUSG00000060063
AA Change: F67S

DomainStartEndE-ValueType
Pfam:MAPEG 5 133 7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200806
SMART Domains Protein: ENSMUSP00000144472
Gene: ENSMUSG00000060063

DomainStartEndE-ValueType
PDB:2Q7R|F 1 70 9e-41 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000200928
SMART Domains Protein: ENSMUSP00000144115
Gene: ENSMUSG00000060063

DomainStartEndE-ValueType
PDB:2Q7R|F 1 73 5e-43 PDB
Meta Mutation Damage Score 0.9675 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Targeted mutations of this gene result in a complete defect in leukotriene production, resistance to platelet-activating factor mediated anaphylaxis, and reduced acute and chronic inflammatory responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,591,656 (GRCm39) I791F probably damaging Het
Adamts15 A G 9: 30,822,498 (GRCm39) M389T probably damaging Het
Adgrb2 G A 4: 129,910,877 (GRCm39) V1065M probably damaging Het
Agbl1 C A 7: 76,239,225 (GRCm39) A827E unknown Het
Ankrd11 T C 8: 123,614,072 (GRCm39) N2566S possibly damaging Het
Arhgap10 T C 8: 77,985,701 (GRCm39) D722G probably damaging Het
Atp5mf A G 5: 145,128,315 (GRCm39) L4P probably benign Het
Bean1 T C 8: 104,940,557 (GRCm39) V130A probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cdhr2 A G 13: 54,882,700 (GRCm39) D1222G probably benign Het
Chrm4 T A 2: 91,758,075 (GRCm39) V161E probably benign Het
Ckap5 T C 2: 91,426,144 (GRCm39) S1335P probably damaging Het
Col11a1 T A 3: 113,888,192 (GRCm39) Y267* probably null Het
Col14a1 T C 15: 55,201,825 (GRCm39) Y38H unknown Het
Coro2a C T 4: 46,563,047 (GRCm39) G36S Het
Ctsc A T 7: 87,959,104 (GRCm39) K461N possibly damaging Het
Dcaf1 A G 9: 106,712,831 (GRCm39) probably benign Het
Dnah9 A G 11: 65,880,713 (GRCm39) I2628T probably damaging Het
Dnajb5 T C 4: 42,953,233 (GRCm39) I20T probably damaging Het
Dus2 C T 8: 106,775,333 (GRCm39) Q287* probably null Het
Fbxl17 A G 17: 63,532,085 (GRCm39) V586A probably benign Het
Glg1 A T 8: 111,887,452 (GRCm39) probably benign Het
Gm4924 G A 10: 82,214,113 (GRCm39) C637Y unknown Het
Gorasp1 A G 9: 119,757,442 (GRCm39) F310S probably damaging Het
Gsta5 A T 9: 78,212,667 (GRCm39) I213F probably benign Het
Igfn1 G A 1: 135,883,328 (GRCm39) T2726I probably damaging Het
Inppl1 G T 7: 101,475,231 (GRCm39) P940Q probably benign Het
Klk1b22 G A 7: 43,765,692 (GRCm39) V183M possibly damaging Het
Krt12 A G 11: 99,309,378 (GRCm39) M294T probably damaging Het
Krtap6-2 GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA 16: 89,216,613 (GRCm39) probably benign Het
Lep T C 6: 29,071,093 (GRCm39) L139P probably damaging Het
Ltn1 T C 16: 87,224,532 (GRCm39) D64G probably damaging Het
Lyzl1 C T 18: 4,168,604 (GRCm39) A28V probably null Het
Mcam T C 9: 44,051,693 (GRCm39) V483A probably benign Het
Mia2 C T 12: 59,217,053 (GRCm39) probably benign Het
Mzf1 T A 7: 12,778,279 (GRCm39) H454L probably damaging Het
Pde10a A G 17: 9,197,782 (GRCm39) T742A probably benign Het
Rapgef4 A G 2: 71,861,493 (GRCm39) Y61C probably benign Het
Ryr2 A T 13: 11,618,741 (GRCm39) probably benign Het
Setbp1 G T 18: 78,900,948 (GRCm39) H906Q probably damaging Het
Slc12a4 A G 8: 106,670,984 (GRCm39) V1032A probably benign Het
Slc6a15 T C 10: 103,236,140 (GRCm39) M285T probably damaging Het
Spata31h1 G A 10: 82,131,352 (GRCm39) Q553* probably null Het
Steap2 A G 5: 5,727,475 (GRCm39) Y287H probably damaging Het
Tas2r135 T G 6: 42,383,315 (GRCm39) F285V probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Ttn T C 2: 76,618,538 (GRCm39) T16249A probably benign Het
Usp8 A G 2: 126,579,343 (GRCm39) T299A probably benign Het
Vmn2r101 A G 17: 19,811,288 (GRCm39) I457M possibly damaging Het
Vps41 A G 13: 19,023,883 (GRCm39) E437G probably benign Het
Zfp638 A T 6: 83,953,894 (GRCm39) E1333V probably damaging Het
Other mutations in Alox5ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0042:Alox5ap UTSW 5 149,216,069 (GRCm39) intron probably benign
R1537:Alox5ap UTSW 5 149,201,993 (GRCm39) unclassified probably null
R2286:Alox5ap UTSW 5 149,222,240 (GRCm39) splice site probably null
R6861:Alox5ap UTSW 5 149,201,927 (GRCm39) missense probably damaging 1.00
R8343:Alox5ap UTSW 5 149,224,419 (GRCm39) missense probably damaging 1.00
R8859:Alox5ap UTSW 5 149,201,994 (GRCm39) critical splice donor site probably null
R9067:Alox5ap UTSW 5 149,222,190 (GRCm39) missense probably damaging 1.00
R9269:Alox5ap UTSW 5 149,216,006 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGTTGGGCATCTTCATCCTGC -3'
(R):5'- TGCATTACCACACCACGCTG -3'

Sequencing Primer
(F):5'- TGCCGCTCCCATTCAGACG -3'
(R):5'- AGGGCTCTCATCTCTCCAGG -3'
Posted On 2021-12-30