Incidental Mutation 'IGL00331:Alox5'
ID5384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alox5
Ensembl Gene ENSMUSG00000025701
Gene Namearachidonate 5-lipoxygenase
Synonyms5LO, 5-LOX, 5LX
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #IGL00331
Quality Score
Status
Chromosome6
Chromosomal Location116410077-116461178 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 116415517 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 348 (W348R)
Ref Sequence ENSEMBL: ENSMUSP00000145367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026795] [ENSMUST00000164547] [ENSMUST00000170186] [ENSMUST00000203722]
Predicted Effect probably damaging
Transcript: ENSMUST00000026795
AA Change: W348R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026795
Gene: ENSMUSG00000025701
AA Change: W348R

DomainStartEndE-ValueType
LH2 2 115 3.41e-39 SMART
Pfam:Lipoxygenase 212 662 1.5e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164547
AA Change: W348R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130780
Gene: ENSMUSG00000025701
AA Change: W348R

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 noncoding transcript
Transcript: ENSMUST00000169625
Predicted Effect probably damaging
Transcript: ENSMUST00000170186
AA Change: W348R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130424
Gene: ENSMUSG00000025701
AA Change: W348R

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 probably damaging
Transcript: ENSMUST00000203722
AA Change: W348R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145367
Gene: ENSMUSG00000025701
AA Change: W348R

DomainStartEndE-ValueType
LH2 2 115 2.2e-41 SMART
Pfam:Lipoxygenase 213 430 3e-35 PFAM
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp C A 1: 74,281,436 probably benign Het
Adamts19 T A 18: 59,007,325 probably benign Het
Afg3l1 T A 8: 123,487,389 F190I probably benign Het
Alms1 T A 6: 85,641,371 S2800T possibly damaging Het
Atp13a5 G A 16: 29,267,014 Q823* probably null Het
Atp6v1b2 T C 8: 69,088,934 probably null Het
Chuk T C 19: 44,088,023 I416M possibly damaging Het
Dmbt1 A T 7: 131,099,290 Q1066L possibly damaging Het
Dnah5 A G 15: 28,421,620 T3873A probably damaging Het
Endog C T 2: 30,172,900 T184M probably damaging Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgbp T C 7: 28,101,541 probably benign Het
Flii A G 11: 60,715,833 I1061T probably benign Het
Hdac2 T A 10: 36,997,071 N308K probably damaging Het
Hoxa2 T G 6: 52,163,517 Y163S probably damaging Het
Hsd3b7 T C 7: 127,802,972 L263P probably damaging Het
Klf17 T C 4: 117,761,038 T41A probably benign Het
Lrrfip1 T C 1: 91,068,621 M42T probably damaging Het
Mapk8ip1 C T 2: 92,385,188 V614I probably benign Het
Mocs1 T G 17: 49,435,264 probably null Het
Moxd1 T C 10: 24,282,555 probably benign Het
Mterf1a T C 5: 3,891,610 E86G probably damaging Het
Muc4 A G 16: 32,753,185 D1021G probably benign Het
Nomo1 T C 7: 46,045,336 S212P possibly damaging Het
Olfr1471 A G 19: 13,445,624 D204G probably benign Het
Olfr893 T A 9: 38,209,238 Y60N probably damaging Het
Phf21a A C 2: 92,348,029 T385P probably damaging Het
Piwil4 A T 9: 14,715,031 probably benign Het
Pknox1 T C 17: 31,599,645 probably null Het
Prr14l T C 5: 32,831,066 I362V probably benign Het
Sergef C T 7: 46,635,420 probably null Het
Sez6l T C 5: 112,424,645 D948G probably damaging Het
Skor1 A T 9: 63,146,441 L54Q probably damaging Het
Sntn C T 14: 13,679,086 Q87* probably null Het
Syde2 A G 3: 146,014,341 K772E possibly damaging Het
Taf2 T A 15: 55,071,449 probably null Het
Tbc1d13 T A 2: 30,140,511 Y113N probably damaging Het
Tmem154 T C 3: 84,684,415 F91L probably benign Het
Tmem63a A G 1: 180,966,497 D533G possibly damaging Het
Tmprss15 A T 16: 78,985,994 N712K possibly damaging Het
Trip12 A T 1: 84,730,541 D603E probably damaging Het
Trmt11 T C 10: 30,566,449 D246G probably damaging Het
Vmn1r174 T A 7: 23,754,533 M208K possibly damaging Het
Wdr54 T C 6: 83,155,773 H33R probably benign Het
Zfp207 A G 11: 80,389,002 D111G probably benign Het
Other mutations in Alox5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Alox5 APN 6 116454299 missense probably damaging 1.00
IGL01610:Alox5 APN 6 116413547 missense probably damaging 1.00
IGL02161:Alox5 APN 6 116423193 missense probably benign 0.31
IGL02653:Alox5 APN 6 116415477 missense probably benign 0.41
IGL02903:Alox5 APN 6 116420335 missense probably damaging 1.00
clanger UTSW 6 116414595 missense probably damaging 1.00
triangle UTSW 6 116427137 splice site probably null
R0265:Alox5 UTSW 6 116420362 missense probably benign 0.04
R0347:Alox5 UTSW 6 116413552 missense possibly damaging 0.88
R0543:Alox5 UTSW 6 116454317 critical splice acceptor site probably null
R0633:Alox5 UTSW 6 116420384 missense probably damaging 1.00
R0656:Alox5 UTSW 6 116423330 splice site probably benign
R1298:Alox5 UTSW 6 116427264 missense probably damaging 1.00
R1416:Alox5 UTSW 6 116423145 nonsense probably null
R1484:Alox5 UTSW 6 116454167 missense probably damaging 1.00
R1485:Alox5 UTSW 6 116424164 missense probably damaging 1.00
R1518:Alox5 UTSW 6 116413780 missense probably damaging 0.99
R1993:Alox5 UTSW 6 116415463 missense probably damaging 1.00
R2313:Alox5 UTSW 6 116413861 missense probably benign 0.00
R3125:Alox5 UTSW 6 116427137 splice site probably null
R4042:Alox5 UTSW 6 116461018 missense possibly damaging 0.95
R4092:Alox5 UTSW 6 116412674 intron probably benign
R4356:Alox5 UTSW 6 116420258 missense probably benign 0.05
R4367:Alox5 UTSW 6 116460963 missense possibly damaging 0.86
R4690:Alox5 UTSW 6 116423189 missense probably damaging 1.00
R4792:Alox5 UTSW 6 116461003 missense possibly damaging 0.94
R4873:Alox5 UTSW 6 116413850 unclassified probably null
R4875:Alox5 UTSW 6 116413850 unclassified probably null
R5135:Alox5 UTSW 6 116413786 missense probably benign 0.00
R5242:Alox5 UTSW 6 116460966 missense probably damaging 0.97
R5343:Alox5 UTSW 6 116413507 missense possibly damaging 0.95
R5780:Alox5 UTSW 6 116420349 missense probably benign 0.10
R6348:Alox5 UTSW 6 116414595 missense probably damaging 1.00
R6724:Alox5 UTSW 6 116414548 missense probably damaging 1.00
R6769:Alox5 UTSW 6 116415184 intron probably null
R6954:Alox5 UTSW 6 116420280 nonsense probably null
R7102:Alox5 UTSW 6 116413468 missense probably benign 0.01
R7476:Alox5 UTSW 6 116415433 missense probably benign 0.06
X0028:Alox5 UTSW 6 116424154 missense probably damaging 1.00
Posted On2012-04-20