Incidental Mutation 'R1298:Alox5'
ID 158211
Institutional Source Beutler Lab
Gene Symbol Alox5
Ensembl Gene ENSMUSG00000025701
Gene Name arachidonate 5-lipoxygenase
Synonyms 5LO, 5-LOX, 5LX
MMRRC Submission 039364-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R1298 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 116387038-116438139 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116404225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 145 (W145R)
Ref Sequence ENSEMBL: ENSMUSP00000145367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026795] [ENSMUST00000164547] [ENSMUST00000170186] [ENSMUST00000203722]
AlphaFold P48999
Predicted Effect probably damaging
Transcript: ENSMUST00000026795
AA Change: W145R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026795
Gene: ENSMUSG00000025701
AA Change: W145R

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: W145R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130780
Gene: ENSMUSG00000025701
AA Change: W145R

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 damaging
Transcript: ENSMUST00000170186
AA Change: W145R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130424
Gene: ENSMUSG00000025701
AA Change: W145R

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: W145R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145367
Gene: ENSMUSG00000025701
AA Change: W145R

DomainStartEndE-ValueType
LH2 2 115 2.2e-41 SMART
Pfam:Lipoxygenase 213 430 3e-35 PFAM
Meta Mutation Damage Score 0.9748 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.1%
Validation Efficiency 100% (38/38)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T A 1: 139,385,157 (GRCm39) V267D probably benign Het
Bbs4 A T 9: 59,247,096 (GRCm39) W135R probably damaging Het
Cavin4 T C 4: 48,672,593 (GRCm39) V346A probably benign Het
Cdk18 A C 1: 132,050,189 (GRCm39) probably benign Het
Cyp2j11 C T 4: 96,195,497 (GRCm39) probably null Het
Dnah6 A T 6: 73,136,118 (GRCm39) I1007K probably damaging Het
Dnmt1 T C 9: 20,852,752 (GRCm39) E118G probably benign Het
Eef2 C CN 10: 81,014,602 (GRCm39) probably null Het
Eif1ad5 T A 12: 87,946,853 (GRCm39) D98E probably benign Het
Gm14496 T C 2: 181,637,885 (GRCm39) F320L probably benign Het
Gsdmc3 A T 15: 63,732,130 (GRCm39) L299M probably damaging Het
H6pd T C 4: 150,066,971 (GRCm39) I472V probably benign Het
Hao2 G T 3: 98,790,985 (GRCm39) T63K possibly damaging Het
Jag2 C T 12: 112,879,939 (GRCm39) probably benign Het
Mapre3 A G 5: 31,022,211 (GRCm39) Y211C probably damaging Het
Mycbp2 A G 14: 103,393,334 (GRCm39) S2966P probably damaging Het
Nsd3 T A 8: 26,169,952 (GRCm39) V696E possibly damaging Het
Obscn A G 11: 58,945,723 (GRCm39) Y4163H possibly damaging Het
Or11h4b A T 14: 50,918,337 (GRCm39) Y251* probably null Het
Or12e8 G A 2: 87,188,414 (GRCm39) A209T probably benign Het
Or6c3 G T 10: 129,308,933 (GRCm39) C124F probably damaging Het
Pde2a A G 7: 101,156,409 (GRCm39) E607G probably benign Het
Pinlyp T A 7: 24,244,391 (GRCm39) D51V probably damaging Het
Rcbtb2 T A 14: 73,399,828 (GRCm39) I87N probably damaging Het
Sfswap A G 5: 129,618,442 (GRCm39) I459V probably benign Het
Slitrk6 T C 14: 110,989,297 (GRCm39) N137D possibly damaging Het
Smg1 A T 7: 117,767,434 (GRCm39) probably benign Het
Sobp T A 10: 42,898,331 (GRCm39) H418L probably damaging Het
Spock1 A C 13: 57,660,563 (GRCm39) D180E probably benign Het
Upk3a G A 15: 84,904,752 (GRCm39) V167I probably benign Het
Vmn1r180 T C 7: 23,652,572 (GRCm39) V245A possibly damaging Het
Zbtb25 T C 12: 76,396,775 (GRCm39) E149G probably benign Het
Zgrf1 T C 3: 127,377,538 (GRCm39) C44R possibly damaging 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
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
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'- CTGCCCTTCTGATCAAGAGTACAGC -3'
(R):5'- TGGAAAGATTCCTGGCACTTCCAC -3'

Sequencing Primer
(F):5'- GATCAAGAGTACAGCTTTCCTGG -3'
(R):5'- TCAGCTCAGGGGATAGCCAAA -3'
Posted On 2014-02-18