Incidental Mutation 'IGL01878:Alox8'
ID178940
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alox8
Ensembl Gene ENSMUSG00000020891
Gene Namearachidonate 8-lipoxygenase
Synonyms8-LOX, 8S-lipoxygenase, 8S-LOX, Alox15b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL01878
Quality Score
Status
Chromosome11
Chromosomal Location69183932-69197843 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 69197038 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 147 (Q147K)
Ref Sequence ENSEMBL: ENSMUSP00000091621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021262] [ENSMUST00000094078]
Predicted Effect probably benign
Transcript: ENSMUST00000021262
AA Change: Q147K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021262
Gene: ENSMUSG00000020891
AA Change: Q147K

DomainStartEndE-ValueType
LH2 2 122 1.07e-36 SMART
Pfam:Lipoxygenase 163 662 5.5e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094078
AA Change: Q147K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000091621
Gene: ENSMUSG00000020891
AA Change: Q147K

DomainStartEndE-ValueType
LH2 2 122 1.07e-36 SMART
Pfam:Lipoxygenase 205 405 6.9e-44 PFAM
Pfam:Lipoxygenase 402 640 1.9e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156157
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to the lipoxygenase (LOX) gene family whose members encode enzymes that catalyze the addition of molecular oxygen to polyunsaturated fatty acids (PUFAs) to yield fatty acid hydroperoxides. The encoded enzyme preferentially metabolizes arachidonic acid to yield 8-hydroxyeicosatetraenoic acid (8-HETE), while metabolizing linoleic acid less efficiently. The gene may also function as a tumor suppressor. This gene is located in a cluster of related genes that spans approximately 75 kilobases on chromosome 11. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankib1 T A 5: 3,734,152 M275L possibly damaging Het
Asb2 G A 12: 103,321,663 P546S possibly damaging Het
B9d1 T C 11: 61,507,623 probably benign Het
Col12a1 T C 9: 79,649,975 D1957G possibly damaging Het
Cryzl2 T C 1: 157,472,400 V44A possibly damaging Het
Fbxw19 A C 9: 109,483,279 probably benign Het
Gabrb3 T C 7: 57,816,415 F326L probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11168 T C 9: 3,005,204 C16R probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm7808 T A 9: 19,928,246 probably benign Het
Gpam T C 19: 55,083,374 I312V probably benign Het
H2-M10.5 A G 17: 36,773,816 Y144C probably damaging Het
Hivep3 T C 4: 120,095,227 S247P possibly damaging Het
Hs3st4 T G 7: 124,397,313 C401G probably damaging Het
Klhl2 A G 8: 64,759,824 V227A probably damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Lipm T A 19: 34,116,511 L276Q possibly damaging Het
Lmf2 T A 15: 89,352,418 H515L probably damaging Het
Mccc1 G A 3: 35,975,892 S423L probably damaging Het
Mettl21e G A 1: 44,211,033 S71L probably null Het
Muc16 T A 9: 18,495,543 H251L possibly damaging Het
Neb T C 2: 52,169,840 probably benign Het
Ntf5 T C 7: 45,416,026 I194T probably damaging Het
Olfr1124 T C 2: 87,434,970 I161T possibly damaging Het
Olfr1154 A T 2: 87,903,331 L115* probably null Het
Olfr1265 T C 2: 90,037,134 S72P probably damaging Het
Olfr1361 T C 13: 21,658,783 D180G possibly damaging Het
Olfr99 A G 17: 37,280,000 V140A possibly damaging Het
Pigv T C 4: 133,665,117 I247M probably benign Het
Pik3r5 A G 11: 68,492,530 N392D probably benign Het
Postn A G 3: 54,383,480 probably null Het
Prl2c5 G A 13: 13,185,817 S23N probably benign Het
Prpf40b T C 15: 99,306,532 C220R possibly damaging Het
Pzp A G 6: 128,495,298 S843P probably damaging Het
Rpl23 C A 11: 97,778,351 R85L probably benign Het
Shcbp1 A G 8: 4,749,721 S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 probably null Het
Sptbn4 T C 7: 27,364,146 E2285G probably damaging Het
Telo2 G T 17: 25,101,358 T784K probably benign Het
Tnfrsf19 C T 14: 60,996,644 V136M probably damaging Het
Trpm5 T A 7: 143,074,497 I22F probably damaging Het
Trpv6 G T 6: 41,626,867 probably benign Het
Vmn1r173 T G 7: 23,702,452 H37Q probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo6 T A 7: 126,174,193 H20L probably benign Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging Het
Other mutations in Alox8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Alox8 APN 11 69188690 missense probably benign
IGL02342:Alox8 APN 11 69186227 missense probably damaging 1.00
IGL02694:Alox8 APN 11 69186629 missense probably damaging 0.99
IGL03246:Alox8 APN 11 69186015 missense probably damaging 1.00
IGL03373:Alox8 APN 11 69186617 missense probably benign 0.00
R0567:Alox8 UTSW 11 69191522 critical splice donor site probably null
R1575:Alox8 UTSW 11 69185241 missense possibly damaging 0.94
R1688:Alox8 UTSW 11 69189906 missense probably benign 0.01
R2021:Alox8 UTSW 11 69186288 missense probably damaging 0.98
R2041:Alox8 UTSW 11 69197691 missense possibly damaging 0.67
R2175:Alox8 UTSW 11 69187766 missense possibly damaging 0.85
R2237:Alox8 UTSW 11 69185771 missense probably benign 0.00
R3821:Alox8 UTSW 11 69186482 missense probably damaging 0.98
R4870:Alox8 UTSW 11 69186568 missense probably damaging 1.00
R6836:Alox8 UTSW 11 69186505 missense probably damaging 1.00
R6836:Alox8 UTSW 11 69189889 missense possibly damaging 0.82
R7003:Alox8 UTSW 11 69191590 missense possibly damaging 0.70
R7158:Alox8 UTSW 11 69185870 missense probably benign 0.00
R7316:Alox8 UTSW 11 69186238 missense probably benign 0.01
R7513:Alox8 UTSW 11 69187844 missense probably benign 0.34
X0065:Alox8 UTSW 11 69185253 missense probably damaging 1.00
Posted On2014-05-07