Incidental Mutation 'IGL02161:Alox5'
ID282472
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: 0.114) question?
Stock #IGL02161
Quality Score
Status
Chromosome6
Chromosomal Location116410077-116461178 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116423193 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 262 (M262L)
Ref Sequence ENSEMBL: ENSMUSP00000130780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026795] [ENSMUST00000164547] [ENSMUST00000170186] [ENSMUST00000203722]
Predicted Effect probably benign
Transcript: ENSMUST00000026795
AA Change: M262L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000026795
Gene: ENSMUSG00000025701
AA Change: M262L

DomainStartEndE-ValueType
LH2 2 115 3.41e-39 SMART
Pfam:Lipoxygenase 212 662 1.5e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164547
AA Change: M262L

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130780
Gene: ENSMUSG00000025701
AA Change: M262L

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 probably benign
Transcript: ENSMUST00000170186
AA Change: M262L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000130424
Gene: ENSMUSG00000025701
AA Change: M262L

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 benign
Transcript: ENSMUST00000203722
AA Change: M262L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000145367
Gene: ENSMUSG00000025701
AA Change: M262L

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,874,755 V1024D probably benign Het
Arid5b T C 10: 68,096,668 T1135A probably benign Het
Ascc3 T A 10: 50,850,527 Y2177* probably null Het
Birc6 A C 17: 74,548,837 H214P probably damaging Het
Catsperb T A 12: 101,409,415 probably benign Het
Ccr1l1 G A 9: 123,977,963 T149I possibly damaging Het
Cfap57 T G 4: 118,579,372 R942S possibly damaging Het
Crocc G A 4: 141,033,991 A941V probably benign Het
Csde1 A G 3: 103,050,338 Q471R probably damaging Het
Csmd1 C T 8: 16,358,412 V380I probably damaging Het
Dhx8 A T 11: 101,757,606 Q857L probably damaging Het
Eftud2 A G 11: 102,854,876 probably benign Het
Fat3 C A 9: 15,997,050 R2552I probably benign Het
Fat3 T A 9: 15,997,051 R2552* probably null Het
Fbln7 A T 2: 128,889,791 K166I probably benign Het
Glrx2 C T 1: 143,739,683 S8L possibly damaging Het
Grin2d T G 7: 45,854,422 I630L possibly damaging Het
Gsap T A 5: 21,253,379 W423R probably damaging Het
Kifc2 A G 15: 76,666,045 E468G probably damaging Het
Kpnb1 A G 11: 97,168,936 S566P probably benign Het
Lemd2 A G 17: 27,190,651 S509P probably damaging Het
Lepr T C 4: 101,745,678 F221S probably damaging Het
Nynrin T C 14: 55,863,984 F370S probably damaging Het
Olfr642 C A 7: 104,049,590 V255L possibly damaging Het
Pcdhb15 T A 18: 37,475,502 S596T possibly damaging Het
Prkcq G T 2: 11,277,076 S472I probably benign Het
Rabgef1 T C 5: 130,207,099 probably benign Het
Rnd3 C T 2: 51,134,076 V164M probably benign Het
Rtn4rl1 G A 11: 75,265,840 R366Q probably damaging Het
Sesn2 A T 4: 132,496,918 I393N probably damaging Het
St8sia2 T C 7: 73,976,682 N46S probably benign Het
Svopl A G 6: 38,036,815 probably benign Het
Tbr1 C T 2: 61,805,239 Q178* probably null Het
Vax2 T C 6: 83,737,903 S267P probably damaging Het
Vmn1r47 T A 6: 90,022,316 Y143* probably null Het
Vmn2r28 A G 7: 5,488,124 S375P possibly damaging Het
Vmn2r44 A T 7: 8,377,815 Y360N possibly damaging Het
Zc3h6 G A 2: 128,993,226 S94N possibly damaging Het
Other mutations in Alox5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Alox5 APN 6 116415517 missense probably damaging 1.00
IGL00954:Alox5 APN 6 116454299 missense probably damaging 1.00
IGL01610:Alox5 APN 6 116413547 missense probably damaging 1.00
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
R7626:Alox5 UTSW 6 116413795 missense possibly damaging 0.94
R7690:Alox5 UTSW 6 116415456 missense probably damaging 1.00
R7912:Alox5 UTSW 6 116412536 missense probably benign 0.05
R7993:Alox5 UTSW 6 116412536 missense probably benign 0.05
X0028:Alox5 UTSW 6 116424154 missense probably damaging 1.00
Posted On2015-04-16