Incidental Mutation 'R1518:Alox5'
ID 167177
Institutional Source Beutler Lab
Gene Symbol Alox5
Ensembl Gene ENSMUSG00000025701
Gene Name arachidonate 5-lipoxygenase
Synonyms 5LO, 5-LOX, 5LX
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R1518 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 116387038-116438139 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116390741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 470 (F470S)
Ref Sequence ENSEMBL: ENSMUSP00000130780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026795] [ENSMUST00000079012] [ENSMUST00000101032] [ENSMUST00000164547] [ENSMUST00000170186] [ENSMUST00000203722] [ENSMUST00000203193]
AlphaFold P48999
Predicted Effect possibly damaging
Transcript: ENSMUST00000026795
AA Change: F470S

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026795
Gene: ENSMUSG00000025701
AA Change: F470S

DomainStartEndE-ValueType
LH2 2 115 3.41e-39 SMART
Pfam:Lipoxygenase 212 662 1.5e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079012
SMART Domains Protein: ENSMUSP00000078024
Gene: ENSMUSG00000025702

DomainStartEndE-ValueType
low complexity region 47 64 N/A INTRINSIC
RINGv 75 123 1.16e-23 SMART
transmembrane domain 151 173 N/A INTRINSIC
transmembrane domain 188 210 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101032
SMART Domains Protein: ENSMUSP00000098594
Gene: ENSMUSG00000025702

DomainStartEndE-ValueType
low complexity region 47 64 N/A INTRINSIC
RINGv 75 123 1.16e-23 SMART
transmembrane domain 151 173 N/A INTRINSIC
transmembrane domain 188 210 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164547
AA Change: F470S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130780
Gene: ENSMUSG00000025701
AA Change: F470S

DomainStartEndE-ValueType
LH2 2 115 3.41e-39 SMART
Pfam:Lipoxygenase 125 217 5.1e-12 PFAM
Pfam:Lipoxygenase 213 564 8.4e-133 PFAM
Pfam:Lipoxygenase 558 609 7.3e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167447
Predicted Effect possibly damaging
Transcript: ENSMUST00000170186
AA Change: F438S

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130424
Gene: ENSMUSG00000025701
AA Change: F438S

DomainStartEndE-ValueType
LH2 2 115 3.41e-39 SMART
Pfam:Lipoxygenase 150 220 1.9e-13 PFAM
Pfam:Lipoxygenase 215 432 8.6e-79 PFAM
Pfam:Lipoxygenase 426 634 1e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169625
Predicted Effect probably benign
Transcript: ENSMUST00000203722
SMART Domains Protein: ENSMUSP00000145367
Gene: ENSMUSG00000025701

DomainStartEndE-ValueType
LH2 2 115 2.2e-41 SMART
Pfam:Lipoxygenase 213 430 3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203193
SMART Domains Protein: ENSMUSP00000145137
Gene: ENSMUSG00000025702

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
RINGv 36 84 2.9e-26 SMART
transmembrane domain 112 134 N/A INTRINSIC
transmembrane domain 149 171 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency
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 lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Nullizygous mice show altered inflammatory responses. One null mutation causes resistance to lethal anaphylaxis, abnormal eicosanoid production and neutrophil recruitment while another leads to increased body fat, bone density, leptin and VLDL cholesterol levels and resistance to autoimmune uveitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,186,666 (GRCm39) M493L probably benign Het
Abtb2 G A 2: 103,539,629 (GRCm39) V665I probably benign Het
Adamtsl1 C G 4: 86,260,840 (GRCm39) S1017W probably damaging Het
Aebp1 A G 11: 5,821,469 (GRCm39) T623A possibly damaging Het
Angpt2 T C 8: 18,755,855 (GRCm39) E204G probably benign Het
Apip A G 2: 102,919,838 (GRCm39) E138G probably damaging Het
Apob C T 12: 8,039,207 (GRCm39) T466M probably benign Het
Atp2b3 GACAACA GACA X: 72,588,729 (GRCm39) probably benign Het
Atxn7l3 A T 11: 102,185,340 (GRCm39) D56E probably benign Het
Cacna1s C T 1: 136,026,289 (GRCm39) A1092V probably damaging Het
Calr3 A G 8: 73,181,044 (GRCm39) F183L probably damaging Het
Cd300lb T A 11: 114,816,877 (GRCm39) D55V probably benign Het
Chid1 A C 7: 141,108,384 (GRCm39) V145G probably damaging Het
Chst15 T C 7: 131,871,855 (GRCm39) N142S probably damaging Het
Cnot4 C T 6: 35,028,389 (GRCm39) R409Q probably damaging Het
Cope T G 8: 70,765,411 (GRCm39) I287S possibly damaging Het
Cpd A T 11: 76,731,212 (GRCm39) probably null Het
Cux1 G T 5: 136,337,133 (GRCm39) T785K probably benign Het
Dennd2b A G 7: 109,156,562 (GRCm39) S63P probably damaging Het
Dthd1 T C 5: 62,979,383 (GRCm39) S348P probably damaging Het
Eno3 G T 11: 70,551,903 (GRCm39) E64* probably null Het
Entpd1 T A 19: 40,713,507 (GRCm39) Y184* probably null Het
Erv3 A T 2: 131,698,083 (GRCm39) M92K probably benign Het
Flg2 T A 3: 93,110,445 (GRCm39) H824Q unknown Het
Fndc9 G A 11: 46,128,930 (GRCm39) G150S probably benign Het
Gdap1 G A 1: 17,217,169 (GRCm39) V43I possibly damaging Het
Ifi213 C A 1: 173,417,229 (GRCm39) L394F probably damaging Het
Ift88 A G 14: 57,668,085 (GRCm39) T29A possibly damaging Het
Kdm4c A T 4: 74,252,063 (GRCm39) I437L probably benign Het
Kras T A 6: 145,177,977 (GRCm39) E98D probably benign Het
Lcorl C A 5: 45,891,543 (GRCm39) R353I possibly damaging Het
Lrrc4c A G 2: 97,460,921 (GRCm39) I516V probably benign Het
Lrrc51 T C 7: 101,564,803 (GRCm39) D85G probably damaging Het
Lypd6b G A 2: 49,837,504 (GRCm39) A159T probably damaging Het
Magel2 G A 7: 62,030,188 (GRCm39) V1031I unknown Het
Man1c1 A T 4: 134,308,100 (GRCm39) N338K probably benign Het
Mdn1 C A 4: 32,739,977 (GRCm39) Q3744K probably damaging Het
Micu3 G T 8: 40,788,893 (GRCm39) A135S possibly damaging Het
Muc4 T C 16: 32,569,167 (GRCm39) S76P possibly damaging Het
Nin T G 12: 70,061,547 (GRCm39) T2106P probably benign Het
Nlrp4e T C 7: 23,021,268 (GRCm39) I585T probably benign Het
Npy1r C T 8: 67,156,847 (GRCm39) A89V probably benign Het
Or11g27 T C 14: 50,771,622 (GRCm39) V251A probably damaging Het
Or4c115 G A 2: 88,927,944 (GRCm39) A109V probably benign Het
Or52ae7 T A 7: 103,119,249 (GRCm39) M1K probably null Het
Or52n3 T A 7: 104,530,515 (GRCm39) Y200* probably null Het
Or5w13 A T 2: 87,523,872 (GRCm39) M118K probably damaging Het
Parp14 T G 16: 35,677,008 (GRCm39) T987P possibly damaging Het
Pde7b A T 10: 20,423,867 (GRCm39) V3E probably damaging Het
Pdlim7 G T 13: 55,656,107 (GRCm39) Y104* probably null Het
Pgm2l1 A G 7: 99,910,932 (GRCm39) K292R probably benign Het
Plec T C 15: 76,072,401 (GRCm39) E728G probably damaging Het
Plppr4 T C 3: 117,129,152 (GRCm39) Y105C probably damaging Het
Polr1c A T 17: 46,558,821 (GRCm39) N23K possibly damaging Het
Ppp5c A T 7: 16,743,861 (GRCm39) M191K probably damaging Het
Prkca T C 11: 107,869,142 (GRCm39) D57G probably damaging Het
Prkcb A G 7: 122,143,854 (GRCm39) probably null Het
Prl6a1 A T 13: 27,502,911 (GRCm39) Q169L probably null Het
Prl6a1 C A 13: 27,502,910 (GRCm39) Q169K possibly damaging Het
Psmd14 G A 2: 61,591,335 (GRCm39) R46H probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ramp2 A G 11: 101,138,408 (GRCm39) T22A probably benign Het
Rbm19 AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 5: 120,278,345 (GRCm39) probably benign Het
Rbm25 A T 12: 83,715,219 (GRCm39) E463D possibly damaging Het
Retnlb A G 16: 48,637,678 (GRCm39) I35V probably benign Het
Sestd1 A G 2: 77,071,976 (GRCm39) Y49H probably damaging Het
Setd2 T A 9: 110,431,306 (GRCm39) I2378N probably damaging Het
Slc26a1 A T 5: 108,819,740 (GRCm39) C486* probably null Het
Spef2 T A 15: 9,667,316 (GRCm39) I791F probably damaging Het
Sptb T C 12: 76,650,798 (GRCm39) T1726A possibly damaging Het
Stk38l T A 6: 146,673,129 (GRCm39) M296K probably benign Het
Taf5 T C 19: 47,070,285 (GRCm39) F624L probably damaging Het
Tmem30c G T 16: 57,086,855 (GRCm39) T316K probably damaging Het
Trpm2 A G 10: 77,778,839 (GRCm39) S376P possibly damaging Het
Vmn2r82 A T 10: 79,214,702 (GRCm39) L228F probably damaging Het
Zfp607b G A 7: 27,398,087 (GRCm39) C57Y possibly damaging Het
Zfp983 A G 17: 21,881,269 (GRCm39) H399R probably damaging Het
Zfp984 A T 4: 147,840,002 (GRCm39) M283K probably benign Het
Other mutations in Alox5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Alox5 APN 6 116,392,478 (GRCm39) missense probably damaging 1.00
IGL00954:Alox5 APN 6 116,431,260 (GRCm39) missense probably damaging 1.00
IGL01610:Alox5 APN 6 116,390,508 (GRCm39) missense probably damaging 1.00
IGL02161:Alox5 APN 6 116,400,154 (GRCm39) missense probably benign 0.31
IGL02653:Alox5 APN 6 116,392,438 (GRCm39) missense probably benign 0.41
IGL02903:Alox5 APN 6 116,397,296 (GRCm39) missense probably damaging 1.00
clanger UTSW 6 116,391,556 (GRCm39) missense probably damaging 1.00
nova UTSW 6 116,389,510 (GRCm39) nonsense probably null
timpani UTSW 6 116,392,417 (GRCm39) missense probably damaging 1.00
Triangle UTSW 6 116,404,098 (GRCm39) splice site probably null
R0265:Alox5 UTSW 6 116,397,323 (GRCm39) missense probably benign 0.04
R0347:Alox5 UTSW 6 116,390,513 (GRCm39) missense possibly damaging 0.88
R0543:Alox5 UTSW 6 116,431,278 (GRCm39) critical splice acceptor site probably null
R0633:Alox5 UTSW 6 116,397,345 (GRCm39) missense probably damaging 1.00
R0656:Alox5 UTSW 6 116,400,291 (GRCm39) splice site probably benign
R1298:Alox5 UTSW 6 116,404,225 (GRCm39) missense probably damaging 1.00
R1416:Alox5 UTSW 6 116,400,106 (GRCm39) nonsense probably null
R1484:Alox5 UTSW 6 116,431,128 (GRCm39) missense probably damaging 1.00
R1485:Alox5 UTSW 6 116,401,125 (GRCm39) missense probably damaging 1.00
R1993:Alox5 UTSW 6 116,392,424 (GRCm39) missense probably damaging 1.00
R2313:Alox5 UTSW 6 116,390,822 (GRCm39) missense probably benign 0.00
R3125:Alox5 UTSW 6 116,404,098 (GRCm39) splice site probably null
R4042:Alox5 UTSW 6 116,437,979 (GRCm39) missense possibly damaging 0.95
R4092:Alox5 UTSW 6 116,389,635 (GRCm39) intron probably benign
R4356:Alox5 UTSW 6 116,397,219 (GRCm39) missense probably benign 0.05
R4367:Alox5 UTSW 6 116,437,924 (GRCm39) missense possibly damaging 0.86
R4690:Alox5 UTSW 6 116,400,150 (GRCm39) missense probably damaging 1.00
R4792:Alox5 UTSW 6 116,437,964 (GRCm39) missense possibly damaging 0.94
R4873:Alox5 UTSW 6 116,390,811 (GRCm39) splice site probably null
R4875:Alox5 UTSW 6 116,390,811 (GRCm39) splice site probably null
R5135:Alox5 UTSW 6 116,390,747 (GRCm39) missense probably benign 0.00
R5242:Alox5 UTSW 6 116,437,927 (GRCm39) missense probably damaging 0.97
R5343:Alox5 UTSW 6 116,390,468 (GRCm39) missense possibly damaging 0.95
R5780:Alox5 UTSW 6 116,397,310 (GRCm39) missense probably benign 0.10
R6348:Alox5 UTSW 6 116,391,556 (GRCm39) missense probably damaging 1.00
R6724:Alox5 UTSW 6 116,391,509 (GRCm39) missense probably damaging 1.00
R6769:Alox5 UTSW 6 116,392,145 (GRCm39) splice site probably null
R6954:Alox5 UTSW 6 116,397,241 (GRCm39) nonsense probably null
R7102:Alox5 UTSW 6 116,390,429 (GRCm39) missense probably benign 0.01
R7476:Alox5 UTSW 6 116,392,394 (GRCm39) missense probably benign 0.06
R7626:Alox5 UTSW 6 116,390,756 (GRCm39) missense possibly damaging 0.94
R7690:Alox5 UTSW 6 116,392,417 (GRCm39) missense probably damaging 1.00
R7912:Alox5 UTSW 6 116,389,497 (GRCm39) missense probably benign 0.05
R8234:Alox5 UTSW 6 116,390,835 (GRCm39) missense probably damaging 0.98
R8701:Alox5 UTSW 6 116,390,787 (GRCm39) missense possibly damaging 0.47
R8787:Alox5 UTSW 6 116,390,102 (GRCm39) missense probably damaging 0.99
R8910:Alox5 UTSW 6 116,389,510 (GRCm39) nonsense probably null
R9708:Alox5 UTSW 6 116,392,537 (GRCm39) missense probably damaging 1.00
X0028:Alox5 UTSW 6 116,401,115 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCGTACACGTAAACATCCTTCAC -3'
(R):5'- CAGCTTTTGGGGAAAGCAACCAAAC -3'

Sequencing Primer
(F):5'- CTATCAGGAGTGCGTATCCAG -3'
(R):5'- AAACTCAGGCTCTCTGCTC -3'
Posted On 2014-04-13