Incidental Mutation 'R6724:Alox5'
ID 529756
Institutional Source Beutler Lab
Gene Symbol Alox5
Ensembl Gene ENSMUSG00000025701
Gene Name arachidonate 5-lipoxygenase
Synonyms 5LO, 5-LOX, 5LX
MMRRC Submission 044842-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R6724 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 116387038-116438139 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116391509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 416 (I416N)
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: I416N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026795
Gene: ENSMUSG00000025701
AA Change: I416N

DomainStartEndE-ValueType
LH2 2 115 3.41e-39 SMART
Pfam:Lipoxygenase 212 662 1.5e-79 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000164547
AA Change: I416N

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130780
Gene: ENSMUSG00000025701
AA Change: I416N

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: I416N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130424
Gene: ENSMUSG00000025701
AA Change: I416N

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: I416N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145367
Gene: ENSMUSG00000025701
AA Change: I416N

DomainStartEndE-ValueType
LH2 2 115 2.2e-41 SMART
Pfam:Lipoxygenase 213 430 3e-35 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 98% (63/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T A 16: 85,665,445 (GRCm39) T619S probably benign Het
Adgra2 G A 8: 27,604,210 (GRCm39) A467T possibly damaging Het
Blmh A G 11: 76,862,733 (GRCm39) probably null Het
Cftr T A 6: 18,255,973 (GRCm39) Y567* probably null Het
Cnr1 T A 4: 33,944,728 (GRCm39) M372K possibly damaging Het
Col6a3 T C 1: 90,706,874 (GRCm39) T2080A unknown Het
Crybg3 A T 16: 59,364,501 (GRCm39) C2374S probably benign Het
Csmd2 A G 4: 128,457,164 (GRCm39) I3544V probably damaging Het
Dnah12 A T 14: 26,518,180 (GRCm39) D1809V probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnajb12 A G 10: 59,728,602 (GRCm39) D190G possibly damaging Het
Dtnb T A 12: 3,736,817 (GRCm39) V319D probably damaging Het
Eif1ad6 A T 12: 87,668,754 (GRCm39) I129F unknown Het
Ercc6 A T 14: 32,288,288 (GRCm39) E820V probably benign Het
Fip1l1 T G 5: 74,752,435 (GRCm39) V378G probably damaging Het
Gabrg1 T A 5: 70,911,552 (GRCm39) Y358F possibly damaging Het
Gcn1 T G 5: 115,747,217 (GRCm39) probably null Het
Gm11011 T A 2: 169,429,402 (GRCm39) T28S unknown Het
Guf1 C A 5: 69,723,736 (GRCm39) N438K probably damaging Het
Hoxa7 T C 6: 52,192,719 (GRCm39) E223G probably benign Het
Hspg2 G A 4: 137,242,618 (GRCm39) G611E probably damaging Het
Ipo8 A T 6: 148,711,473 (GRCm39) probably null Het
Isl2 A G 9: 55,448,572 (GRCm39) D3G possibly damaging Het
Kcnb2 A G 1: 15,780,664 (GRCm39) Y512C probably damaging Het
Kifc1 T A 17: 34,105,707 (GRCm39) probably null Het
Klhdc10 A G 6: 30,446,640 (GRCm39) D183G probably damaging Het
Klra5 T A 6: 129,883,643 (GRCm39) K71N probably benign Het
Lrp6 T C 6: 134,463,504 (GRCm39) H559R possibly damaging Het
Maml3 T C 3: 51,763,296 (GRCm39) N556S probably damaging Het
Man2a1 A G 17: 65,038,264 (GRCm39) I83V possibly damaging Het
Mrgpra9 A G 7: 46,884,786 (GRCm39) S293P probably damaging Het
Nalcn A G 14: 123,535,479 (GRCm39) S1282P probably damaging Het
Npepps A T 11: 97,096,828 (GRCm39) probably benign Het
Or4a72 A T 2: 89,405,309 (GRCm39) F254I probably benign Het
Or4c108 T G 2: 88,803,612 (GRCm39) I208L probably benign Het
Or8u10 A T 2: 85,915,701 (GRCm39) V140E possibly damaging Het
Or9m1 T G 2: 87,733,946 (GRCm39) S25R probably benign Het
Pkn3 C A 2: 29,980,562 (GRCm39) R818S possibly damaging Het
Plekha3 T A 2: 76,517,745 (GRCm39) H190Q probably damaging Het
Ppp2r3c A T 12: 55,335,281 (GRCm39) S261T probably benign Het
Ptprj T C 2: 90,281,195 (GRCm39) D1015G probably benign Het
Pus10 T C 11: 23,679,037 (GRCm39) M503T possibly damaging Het
Pvr T C 7: 19,652,604 (GRCm39) R104G possibly damaging Het
Rubcnl A G 14: 75,289,450 (GRCm39) R653G probably benign Het
Semp2l2a A T 8: 13,887,083 (GRCm39) L336Q probably damaging Het
Serpina1a G T 12: 103,826,679 (GRCm39) probably benign Het
Shank3 G A 15: 89,416,656 (GRCm39) R265Q probably damaging Het
Slc22a22 C T 15: 57,110,928 (GRCm39) R433H probably damaging Het
Slc22a26 A G 19: 7,779,726 (GRCm39) I30T probably benign Het
Spz1 A T 13: 92,711,992 (GRCm39) N161K possibly damaging Het
Tacc2 A G 7: 130,330,492 (GRCm39) R259G probably damaging Het
Top1 G A 2: 160,554,616 (GRCm39) V456M probably damaging Het
Tpcn2 G A 7: 144,810,257 (GRCm39) A649V probably benign Het
Trank1 C G 9: 111,194,984 (GRCm39) R1003G probably damaging Het
Tril T A 6: 53,796,559 (GRCm39) H221L possibly damaging Het
Unc79 C T 12: 103,071,120 (GRCm39) T1305I probably damaging Het
Unc80 C T 1: 66,722,350 (GRCm39) A2988V possibly damaging Het
Vinac1 A C 2: 128,879,976 (GRCm39) V650G probably benign Het
Vmn1r81 A T 7: 11,994,599 (GRCm39) M3K probably damaging Het
Vmn2r78 A T 7: 86,603,466 (GRCm39) D548V probably damaging Het
Vwa3b G A 1: 37,084,112 (GRCm39) R95Q probably damaging Het
Wdr6 G A 9: 108,452,093 (GRCm39) H597Y probably benign Het
Yme1l1 C T 2: 23,084,774 (GRCm39) T624I probably 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
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
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
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'- CTCAGACACTGAAACTGGACAG -3'
(R):5'- TACAGGGCAGGAAGGTCTAC -3'

Sequencing Primer
(F):5'- TCAGACACTGAAACTGGACAGGATAC -3'
(R):5'- GGTCTACACAGAGCCCTTTCAC -3'
Posted On 2018-08-01