Incidental Mutation 'R6348:Alox5'
ID 514440
Institutional Source Beutler Lab
Gene Symbol Alox5
Ensembl Gene ENSMUSG00000025701
Gene Name arachidonate 5-lipoxygenase
Synonyms 5LO, 5-LOX, 5LX
MMRRC Submission 044502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R6348 (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 116391556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 400 (H400Q)
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: H400Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026795
Gene: ENSMUSG00000025701
AA Change: H400Q

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: H400Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130780
Gene: ENSMUSG00000025701
AA Change: H400Q

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: H400Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130424
Gene: ENSMUSG00000025701
AA Change: H400Q

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: H400Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145367
Gene: ENSMUSG00000025701
AA Change: H400Q

DomainStartEndE-ValueType
LH2 2 115 2.2e-41 SMART
Pfam:Lipoxygenase 213 430 3e-35 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (37/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef16 G T 4: 154,371,540 (GRCm39) Q218K probably benign Het
Asxl3 A T 18: 22,650,330 (GRCm39) H773L possibly damaging Het
Atic C T 1: 71,615,857 (GRCm39) R468W probably damaging Het
Bfsp2 A T 9: 103,357,271 (GRCm39) V52D probably benign Het
Bicd2 A G 13: 49,533,322 (GRCm39) H636R probably damaging Het
Chac2 A G 11: 30,927,406 (GRCm39) V171A probably damaging Het
Chd9 A G 8: 91,737,903 (GRCm39) I1512V possibly damaging Het
Cnbd1 T C 4: 18,860,462 (GRCm39) D428G probably damaging Het
Crlf1 T C 8: 70,945,990 (GRCm39) S22P probably benign Het
Crybg1 A G 10: 43,879,947 (GRCm39) F414L probably damaging Het
Dnah14 A T 1: 181,454,285 (GRCm39) D765V possibly damaging Het
Fat3 A G 9: 15,849,287 (GRCm39) probably null Het
Gabbr1 A T 17: 37,367,791 (GRCm39) M414L possibly damaging Het
Grip2 A T 6: 91,757,419 (GRCm39) D412E probably damaging Het
Herc1 G A 9: 66,395,258 (GRCm39) A4198T possibly damaging Het
Hsd3b3 C T 3: 98,663,265 (GRCm39) probably null Het
Ifi213 G A 1: 173,417,848 (GRCm39) T188I possibly damaging Het
Il36rn G A 2: 24,169,726 (GRCm39) A29T probably damaging Het
Klk1b11 T C 7: 43,647,275 (GRCm39) probably null Het
Mepce A T 5: 137,783,698 (GRCm39) D209E possibly damaging Het
Mtr A C 13: 12,262,840 (GRCm39) V111G possibly damaging Het
Mtrex T A 13: 113,047,451 (GRCm39) H298L possibly damaging Het
Or2h1b A G 17: 37,462,497 (GRCm39) V122A probably damaging Het
Or8k24 T A 2: 86,216,513 (GRCm39) Q83L probably benign Het
Or9k2b A T 10: 130,016,166 (GRCm39) N194K probably benign Het
P2rx1 G A 11: 72,890,148 (GRCm39) R3Q probably benign Het
Phc2 G A 4: 128,598,944 (GRCm39) G34S probably benign Het
Poglut3 G A 9: 53,301,740 (GRCm39) V131M probably damaging Het
Ppm1a A G 12: 72,837,449 (GRCm39) H332R probably benign Het
Sdk2 A G 11: 113,784,334 (GRCm39) V135A probably benign Het
Slc2a4 T C 11: 69,835,848 (GRCm39) T334A probably benign Het
Slc6a15 T G 10: 103,240,228 (GRCm39) V317G probably damaging Het
Speer2 T C 16: 69,654,895 (GRCm39) D190G possibly damaging Het
Tbc1d21 G A 9: 58,268,501 (GRCm39) A286V probably benign Het
Tmem210 T C 2: 25,178,796 (GRCm39) S82P probably benign Het
Top6bl G C 19: 4,722,106 (GRCm39) P105A probably damaging Het
Zbtb26 C T 2: 37,325,687 (GRCm39) V450M probably benign 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
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'- AGGCTCAGACACTGAAACTGG -3'
(R):5'- AGGCCTCCTATAGCTACAGG -3'

Sequencing Primer
(F):5'- CTCAGACACTGAAACTGGACAGG -3'
(R):5'- TCCTATAGCTACAGGGCAGG -3'
Posted On 2018-04-27