Incidental Mutation 'R4873:Alox5'
ID 472579
Institutional Source Beutler Lab
Gene Symbol Alox5
Ensembl Gene ENSMUSG00000025701
Gene Name arachidonate 5-lipoxygenase
Synonyms 5LO, 5-LOX, 5LX
MMRRC Submission 042483-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R4873 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 116387038-116438139 bp(-) (GRCm39)
Type of Mutation splice site (4312 bp from exon)
DNA Base Change (assembly) A to T at 116390811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026795] [ENSMUST00000079012] [ENSMUST00000101032] [ENSMUST00000164547] [ENSMUST00000203722] [ENSMUST00000203193] [ENSMUST00000170186]
AlphaFold P48999
Predicted Effect probably benign
Transcript: ENSMUST00000026795
AA Change: S447T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026795
Gene: ENSMUSG00000025701
AA Change: S447T

DomainStartEndE-ValueType
LH2 2 115 3.41e-39 SMART
Pfam:Lipoxygenase 212 662 1.5e-79 PFAM
Predicted Effect probably null
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 null
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 benign
Transcript: ENSMUST00000164547
AA Change: S447T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130780
Gene: ENSMUSG00000025701
AA Change: S447T

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 noncoding transcript
Transcript: ENSMUST00000167585
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 noncoding transcript
Transcript: ENSMUST00000169625
Predicted Effect probably null
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
Predicted Effect probably benign
Transcript: ENSMUST00000170186
SMART Domains Protein: ENSMUSP00000130424
Gene: ENSMUSG00000025701

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (40/41)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak1 A T 2: 32,521,189 (GRCm39) E119D probably benign Het
Atad5 T C 11: 80,011,515 (GRCm39) V1294A probably damaging Het
BB019430 A G 10: 58,539,865 (GRCm39) noncoding transcript Het
Bbs9 T C 9: 22,490,011 (GRCm39) F261L probably benign Het
Catsperb A T 12: 101,554,244 (GRCm39) N646I possibly damaging Het
Ccdc112 A G 18: 46,429,356 (GRCm39) I114T probably damaging Het
Cecr2 T C 6: 120,727,877 (GRCm39) L340P probably damaging Het
Ces2e T A 8: 105,653,817 (GRCm39) V85E probably damaging Het
Cnpy2 C A 10: 128,161,964 (GRCm39) T79K probably damaging Het
Cntn4 G A 6: 106,414,874 (GRCm39) R135H possibly damaging Het
Cyp3a16 C A 5: 145,389,659 (GRCm39) M235I probably benign Het
Dll3 A G 7: 27,995,860 (GRCm39) C314R probably damaging Het
Dnah7c A G 1: 46,728,085 (GRCm39) N2928D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dqx1 C A 6: 83,037,993 (GRCm39) D460E probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Ehbp1 A G 11: 22,051,164 (GRCm39) C438R probably damaging Het
Ehd3 T G 17: 74,112,299 (GRCm39) V21G probably damaging Het
Ero1b G A 13: 12,619,325 (GRCm39) V440I probably damaging Het
Fpgt G A 3: 154,793,550 (GRCm39) A159V probably damaging Het
Gcn1 T C 5: 115,714,229 (GRCm39) L123P possibly damaging Het
Gm14496 A T 2: 181,639,226 (GRCm39) R439W probably damaging Het
Gm4353 G C 7: 115,683,648 (GRCm39) P49R probably damaging Het
Gsdmc2 C T 15: 63,700,101 (GRCm39) A224T probably benign Het
Hnf1a T C 5: 115,108,732 (GRCm39) T58A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcns1 T C 2: 164,010,021 (GRCm39) Y246C probably damaging Het
Kif26b A G 1: 178,742,892 (GRCm39) E549G probably benign Het
Krt9 T C 11: 100,080,863 (GRCm39) I330V probably benign Het
Lair1 A T 7: 4,032,033 (GRCm39) S25T probably benign Het
Lhx4 T C 1: 155,581,013 (GRCm39) T171A possibly damaging Het
Luzp2 A G 7: 54,816,996 (GRCm39) I149V possibly damaging Het
Mcoln1 T A 8: 3,557,422 (GRCm39) S143T probably benign Het
Mcph1 A G 8: 18,675,574 (GRCm39) probably null Het
Mgat5 G A 1: 127,396,986 (GRCm39) V578M probably damaging Het
Mis18bp1 G A 12: 65,208,209 (GRCm39) T168M probably benign Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Myom1 T C 17: 71,379,114 (GRCm39) V626A probably damaging Het
Naa80 C T 9: 107,460,818 (GRCm39) R238C probably damaging Het
Ncam1 T C 9: 49,418,921 (GRCm39) probably benign Het
Nlrp2 A T 7: 5,301,858 (GRCm39) F211L probably benign Het
Or10a49 A T 7: 108,467,993 (GRCm39) F123I probably damaging Het
Or10q12 T A 19: 13,746,126 (GRCm39) M140K probably damaging Het
Or2ad1 T A 13: 21,326,450 (GRCm39) Y259F probably damaging Het
Osbpl11 G A 16: 33,054,863 (GRCm39) V649I probably benign Het
Oscar A T 7: 3,619,016 (GRCm39) probably null Het
Pax8 T A 2: 24,331,652 (GRCm39) M144L probably benign Het
Pcnt T C 10: 76,205,688 (GRCm39) T2555A probably benign Het
Plat T A 8: 23,258,466 (GRCm39) I23K probably benign Het
Plpp2 G A 10: 79,366,763 (GRCm39) T51M probably damaging Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Prl7c1 T C 13: 27,957,742 (GRCm39) M233V probably benign Het
Prox1 A C 1: 189,894,319 (GRCm39) F42C probably damaging Het
Pwwp2b A T 7: 138,835,978 (GRCm39) Q473L possibly damaging Het
Rims4 A T 2: 163,707,443 (GRCm39) N127K probably null Het
Scn1a T C 2: 66,158,820 (GRCm39) T367A possibly damaging Het
Slc23a2 A G 2: 131,898,800 (GRCm39) I579T possibly damaging Het
Sp9 T C 2: 73,103,962 (GRCm39) V172A possibly damaging Het
Spta1 T A 1: 174,003,396 (GRCm39) L109Q probably damaging Het
Synj2 A T 17: 6,038,343 (GRCm39) probably benign Het
Tcstv2c T C 13: 120,616,206 (GRCm39) V15A probably damaging Het
Tnrc18 A T 5: 142,750,932 (GRCm39) M1216K unknown Het
Tpst2 T A 5: 112,457,687 (GRCm39) Y69* probably null Het
Tpx2 C A 2: 152,735,535 (GRCm39) A721E probably benign Het
Trmt1l A G 1: 151,330,755 (GRCm39) T591A probably benign Het
Tubgcp4 T A 2: 121,015,330 (GRCm39) probably benign Het
Ubiad1 T C 4: 148,528,556 (GRCm39) T118A possibly damaging Het
Unc13c T C 9: 73,424,566 (GRCm39) T2017A probably damaging Het
Vmn1r59 G T 7: 5,457,108 (GRCm39) N217K probably benign Het
Vmn2r87 T C 10: 130,308,367 (GRCm39) I624V probably damaging Het
Wdr4 A G 17: 31,718,129 (GRCm39) V315A probably benign Het
Xpo7 T C 14: 70,914,256 (GRCm39) probably null Het
Zfp827 T A 8: 79,787,403 (GRCm39) W190R probably damaging Het
Zfp971 A G 2: 177,674,940 (GRCm39) T180A probably benign Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S 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
R1518:Alox5 UTSW 6 116,390,741 (GRCm39) missense probably damaging 0.99
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
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
Posted On 2017-04-14