Incidental Mutation 'R5459:Aloxe3'
ID 432939
Institutional Source Beutler Lab
Gene Symbol Aloxe3
Ensembl Gene ENSMUSG00000020892
Gene Name arachidonate lipoxygenase 3
Synonyms e-LOX-3
MMRRC Submission 043022-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5459 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69016722-69039941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69023654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 259 (F259Y)
Ref Sequence ENSEMBL: ENSMUSP00000134814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021268] [ENSMUST00000175661]
AlphaFold Q9WV07
Predicted Effect probably benign
Transcript: ENSMUST00000021268
AA Change: F259Y

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021268
Gene: ENSMUSG00000020892
AA Change: F259Y

DomainStartEndE-ValueType
LH2 2 116 1.93e-20 SMART
Pfam:Lipoxygenase 249 697 3.4e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139257
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156874
Predicted Effect possibly damaging
Transcript: ENSMUST00000175661
AA Change: F259Y

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134814
Gene: ENSMUSG00000020892
AA Change: F259Y

DomainStartEndE-ValueType
LH2 2 116 1.93e-20 SMART
Pfam:Lipoxygenase 245 377 7.6e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176087
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete neonatal lethality, imapired skin barrier function, dehydration, tightly packed stratum corneum, impaired stratum corneum desquamation and reduced levels of ester-bound ceramide in the epidermis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik A G 17: 35,879,079 (GRCm39) E139G possibly damaging Het
Abcc6 T C 7: 45,631,607 (GRCm39) N1223S probably benign Het
Adamts3 A T 5: 89,839,332 (GRCm39) probably null Het
Armc9 G A 1: 86,135,694 (GRCm39) R550Q probably damaging Het
Ctnnd2 A G 15: 30,887,334 (GRCm39) D787G probably damaging Het
Dnah7b A G 1: 46,148,472 (GRCm39) I283V probably null Het
Ebf2 A G 14: 67,472,650 (GRCm39) M23V probably benign Het
Fbxw11 T C 11: 32,689,191 (GRCm39) V438A possibly damaging Het
Fcrla G A 1: 170,745,738 (GRCm39) T348M possibly damaging Het
Gpr179 A T 11: 97,227,483 (GRCm39) H1557Q probably benign Het
Gpr87 A G 3: 59,087,148 (GRCm39) V119A possibly damaging Het
Grep1 C T 17: 23,930,817 (GRCm39) probably benign Het
Hfm1 A G 5: 107,052,629 (GRCm39) S285P probably damaging Het
Hs3st5 T C 10: 36,704,742 (GRCm39) V15A possibly damaging Het
Hyal5 C T 6: 24,891,250 (GRCm39) H355Y probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Map4k3 T A 17: 80,917,216 (GRCm39) N587Y probably damaging Het
Mcm3ap T A 10: 76,332,316 (GRCm39) L1211* probably null Het
Mcmdc2 A G 1: 10,007,309 (GRCm39) I620V probably benign Het
Mical2 C T 7: 111,981,444 (GRCm39) H539Y probably benign Het
Myo9a T C 9: 59,791,803 (GRCm39) L1802P probably damaging Het
Neto2 T A 8: 86,397,112 (GRCm39) I47F probably benign Het
Oog3 G A 4: 143,885,815 (GRCm39) T261I probably benign Het
Or5b95 A G 19: 12,657,799 (GRCm39) E109G probably damaging Het
Pdilt A G 7: 119,086,158 (GRCm39) L519P probably benign Het
Pnpla6 A T 8: 3,585,829 (GRCm39) M844L probably benign Het
Polk C T 13: 96,631,984 (GRCm39) G250R probably damaging Het
Rasal2 A G 1: 156,985,231 (GRCm39) S839P probably damaging Het
Siae T C 9: 37,528,119 (GRCm39) Y31H probably damaging Het
Slc27a2 T C 2: 126,422,912 (GRCm39) V379A probably damaging Het
Snx9 C T 17: 5,970,913 (GRCm39) T418M probably damaging Het
Spata31e2 A C 1: 26,724,272 (GRCm39) S303A probably damaging Het
Srp72 A G 5: 77,132,185 (GRCm39) T258A probably benign Het
Tango6 T A 8: 107,576,921 (GRCm39) D1058E probably damaging Het
Tecpr1 T A 5: 144,144,234 (GRCm39) Y656F probably damaging Het
Tnik T A 3: 28,715,890 (GRCm39) I1168K probably damaging Het
Togaram1 A G 12: 65,014,510 (GRCm39) E587G probably damaging Het
Tyw1 A C 5: 130,303,547 (GRCm39) D305A probably damaging Het
Vmn1r19 T A 6: 57,381,475 (GRCm39) Y9* probably null Het
Zkscan3 A T 13: 21,578,982 (GRCm39) V142E probably damaging Het
Other mutations in Aloxe3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Aloxe3 APN 11 69,020,839 (GRCm39) missense probably benign 0.41
IGL01925:Aloxe3 APN 11 69,019,459 (GRCm39) missense probably damaging 1.00
IGL01947:Aloxe3 APN 11 69,033,847 (GRCm39) splice site probably benign
IGL02421:Aloxe3 APN 11 69,020,872 (GRCm39) missense possibly damaging 0.87
IGL03206:Aloxe3 APN 11 69,020,472 (GRCm39) missense possibly damaging 0.74
IGL03054:Aloxe3 UTSW 11 69,020,433 (GRCm39) missense possibly damaging 0.78
R1613:Aloxe3 UTSW 11 69,020,872 (GRCm39) missense possibly damaging 0.87
R1757:Aloxe3 UTSW 11 69,026,775 (GRCm39) missense possibly damaging 0.72
R1839:Aloxe3 UTSW 11 69,020,911 (GRCm39) missense probably damaging 1.00
R2182:Aloxe3 UTSW 11 69,020,426 (GRCm39) missense possibly damaging 0.93
R2912:Aloxe3 UTSW 11 69,020,866 (GRCm39) missense probably damaging 1.00
R2919:Aloxe3 UTSW 11 69,033,749 (GRCm39) missense probably damaging 0.99
R2920:Aloxe3 UTSW 11 69,033,749 (GRCm39) missense probably damaging 0.99
R4731:Aloxe3 UTSW 11 69,019,480 (GRCm39) missense probably null 0.59
R5245:Aloxe3 UTSW 11 69,020,502 (GRCm39) missense probably benign 0.00
R5493:Aloxe3 UTSW 11 69,019,443 (GRCm39) nonsense probably null
R5725:Aloxe3 UTSW 11 69,019,480 (GRCm39) missense probably null 0.59
R5755:Aloxe3 UTSW 11 69,023,575 (GRCm39) missense probably benign 0.04
R5789:Aloxe3 UTSW 11 69,017,265 (GRCm39) missense probably damaging 1.00
R7343:Aloxe3 UTSW 11 69,023,569 (GRCm39) missense probably benign 0.00
R7419:Aloxe3 UTSW 11 69,018,353 (GRCm39) missense probably benign 0.00
R7451:Aloxe3 UTSW 11 69,033,746 (GRCm39) missense possibly damaging 0.90
R7669:Aloxe3 UTSW 11 69,025,946 (GRCm39) missense probably benign 0.00
R7964:Aloxe3 UTSW 11 69,017,362 (GRCm39) missense probably damaging 0.99
R8080:Aloxe3 UTSW 11 69,023,900 (GRCm39) missense probably damaging 1.00
R8492:Aloxe3 UTSW 11 69,017,301 (GRCm39) missense possibly damaging 0.61
R8694:Aloxe3 UTSW 11 69,033,677 (GRCm39) missense probably damaging 1.00
R8998:Aloxe3 UTSW 11 69,033,051 (GRCm39) missense probably benign 0.03
R9185:Aloxe3 UTSW 11 69,025,114 (GRCm39) missense probably damaging 0.99
R9222:Aloxe3 UTSW 11 69,023,903 (GRCm39) missense probably damaging 0.99
X0019:Aloxe3 UTSW 11 69,039,561 (GRCm39) missense probably damaging 1.00
X0020:Aloxe3 UTSW 11 69,023,853 (GRCm39) critical splice acceptor site probably null
Z1176:Aloxe3 UTSW 11 69,023,905 (GRCm39) missense probably damaging 1.00
Z1186:Aloxe3 UTSW 11 69,039,429 (GRCm39) missense probably benign 0.00
Z1186:Aloxe3 UTSW 11 69,019,501 (GRCm39) missense probably benign
Z1187:Aloxe3 UTSW 11 69,039,429 (GRCm39) missense probably benign 0.00
Z1187:Aloxe3 UTSW 11 69,019,501 (GRCm39) missense probably benign
Z1188:Aloxe3 UTSW 11 69,039,429 (GRCm39) missense probably benign 0.00
Z1188:Aloxe3 UTSW 11 69,019,501 (GRCm39) missense probably benign
Z1189:Aloxe3 UTSW 11 69,039,429 (GRCm39) missense probably benign 0.00
Z1189:Aloxe3 UTSW 11 69,019,501 (GRCm39) missense probably benign
Z1190:Aloxe3 UTSW 11 69,039,429 (GRCm39) missense probably benign 0.00
Z1190:Aloxe3 UTSW 11 69,019,501 (GRCm39) missense probably benign
Z1191:Aloxe3 UTSW 11 69,039,429 (GRCm39) missense probably benign 0.00
Z1191:Aloxe3 UTSW 11 69,019,501 (GRCm39) missense probably benign
Z1192:Aloxe3 UTSW 11 69,039,429 (GRCm39) missense probably benign 0.00
Z1192:Aloxe3 UTSW 11 69,019,501 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGAACCCACTGATTCTCTCCAG -3'
(R):5'- TCACACCAATGCTCGGTGAC -3'

Sequencing Primer
(F):5'- GATTCTCTCCAGCCACGAG -3'
(R):5'- ACGTACTCTGGTGGGGG -3'
Posted On 2016-10-06