Incidental Mutation 'R4463:Alox12e'
ID 381228
Institutional Source Beutler Lab
Gene Symbol Alox12e
Ensembl Gene ENSMUSG00000018907
Gene Name arachidonate lipoxygenase, epidermal
Synonyms 8-LOX, Aloxe, Alox12-ps2, e-LOX1, Alox12-ps1
MMRRC Submission 041721-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4463 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 70206436-70213454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70209082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 388 (L388P)
Ref Sequence ENSEMBL: ENSMUSP00000019051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019051]
AlphaFold P55249
Predicted Effect probably damaging
Transcript: ENSMUST00000019051
AA Change: L388P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: L388P

DomainStartEndE-ValueType
LH2 2 111 9.49e-38 SMART
Pfam:Lipoxygenase 163 649 1.2e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149060
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,769,981 (GRCm39) probably benign Het
Abcc8 T C 7: 45,756,005 (GRCm39) probably null Het
Aspm T A 1: 139,382,748 (GRCm39) S27T possibly damaging Het
Capn2 G A 1: 182,307,329 (GRCm39) probably benign Het
Catspere1 G A 1: 177,765,279 (GRCm39) noncoding transcript Het
Ccdc158 T C 5: 92,782,159 (GRCm39) D820G probably null Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Chd9 T A 8: 91,705,627 (GRCm39) D761E probably benign Het
Chst8 T C 7: 34,374,645 (GRCm39) D398G probably damaging Het
Clns1a T C 7: 97,370,156 (GRCm39) probably benign Het
Cyp3a57 A T 5: 145,318,084 (GRCm39) Y355F probably damaging Het
Cyp4f37 A G 17: 32,846,710 (GRCm39) probably null Het
Eif1ad11 A G 12: 87,994,129 (GRCm39) D119G probably benign Het
Eipr1 G A 12: 28,909,338 (GRCm39) A202T probably damaging Het
Fam83a T C 15: 57,858,655 (GRCm39) S232P probably damaging Het
Fastkd2 C T 1: 63,774,968 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,850,144 (GRCm39) M1197V probably benign Het
Fgfr4 G A 13: 55,304,280 (GRCm39) V107I probably benign Het
Gatad1 G T 5: 3,697,404 (GRCm39) S72R probably benign Het
Gli2 T C 1: 118,763,738 (GRCm39) D1471G probably damaging Het
Gm1330 A T 2: 148,845,064 (GRCm39) Y36* probably null Het
Gm29125 T C 1: 80,360,903 (GRCm39) noncoding transcript Het
Idi1 G A 13: 8,937,508 (GRCm39) probably benign Het
Itgbl1 C T 14: 124,078,080 (GRCm39) T190I probably damaging Het
Kbtbd3 G A 9: 4,331,257 (GRCm39) G544R probably damaging Het
Kifc3 T C 8: 95,828,744 (GRCm39) T638A probably damaging Het
Lama1 G A 17: 68,068,695 (GRCm39) C798Y probably damaging Het
Larp6 C A 9: 60,644,279 (GRCm39) H140N probably damaging Het
Mctp1 A T 13: 76,860,206 (GRCm39) D108V probably damaging Het
Myzap G T 9: 71,462,933 (GRCm39) D204E probably benign Het
Neb GCC GC 2: 52,169,734 (GRCm39) probably null Het
Or13p8 T C 4: 118,583,855 (GRCm39) V137A probably benign Het
Or1j20 T C 2: 36,760,205 (GRCm39) I209T probably benign Het
Or4c102 T C 2: 88,422,976 (GRCm39) V276A possibly damaging Het
Phka1 A G X: 101,588,990 (GRCm39) V818A probably benign Het
Plek T C 11: 16,931,873 (GRCm39) Y326C possibly damaging Het
Pp2d1 A G 17: 53,822,886 (GRCm39) I60T probably benign Het
Prmt3 T C 7: 49,467,837 (GRCm39) Y348H probably damaging Het
Psg27 G T 7: 18,291,010 (GRCm39) Q398K possibly damaging Het
Raver1 T C 9: 21,003,123 (GRCm39) T51A probably benign Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Sectm1a T A 11: 120,960,477 (GRCm39) I113L probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Snph A T 2: 151,436,035 (GRCm39) S229T probably damaging Het
Stpg4 A G 17: 87,697,101 (GRCm39) F183L probably benign Het
Tango6 A T 8: 107,415,706 (GRCm39) T176S probably benign Het
Vmn1r196 A G 13: 22,477,853 (GRCm39) Q164R probably benign Het
Vstm4 T A 14: 32,639,833 (GRCm39) L236Q probably damaging Het
Xylb A G 9: 119,215,433 (GRCm39) D462G probably benign Het
Zc2hc1c A G 12: 85,337,071 (GRCm39) R243G probably damaging Het
Other mutations in Alox12e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Alox12e APN 11 70,211,880 (GRCm39) missense probably benign
IGL01781:Alox12e APN 11 70,212,282 (GRCm39) missense probably damaging 1.00
R0284:Alox12e UTSW 11 70,211,725 (GRCm39) splice site probably benign
R0417:Alox12e UTSW 11 70,212,691 (GRCm39) missense probably benign 0.12
R0557:Alox12e UTSW 11 70,212,274 (GRCm39) missense possibly damaging 0.80
R0593:Alox12e UTSW 11 70,211,723 (GRCm39) splice site probably benign
R1479:Alox12e UTSW 11 70,211,608 (GRCm39) missense probably benign 0.04
R1967:Alox12e UTSW 11 70,208,682 (GRCm39) missense probably benign 0.18
R1996:Alox12e UTSW 11 70,207,034 (GRCm39) missense probably benign 0.00
R2062:Alox12e UTSW 11 70,206,828 (GRCm39) missense probably damaging 1.00
R2063:Alox12e UTSW 11 70,206,828 (GRCm39) missense probably damaging 1.00
R2067:Alox12e UTSW 11 70,206,828 (GRCm39) missense probably damaging 1.00
R2068:Alox12e UTSW 11 70,206,828 (GRCm39) missense probably damaging 1.00
R2147:Alox12e UTSW 11 70,210,771 (GRCm39) missense probably damaging 1.00
R2307:Alox12e UTSW 11 70,212,087 (GRCm39) missense probably damaging 1.00
R3034:Alox12e UTSW 11 70,207,079 (GRCm39) missense probably benign 0.01
R3739:Alox12e UTSW 11 70,210,668 (GRCm39) missense probably damaging 1.00
R4572:Alox12e UTSW 11 70,212,007 (GRCm39) intron probably benign
R5004:Alox12e UTSW 11 70,212,330 (GRCm39) missense probably benign 0.00
R5113:Alox12e UTSW 11 70,206,821 (GRCm39) missense possibly damaging 0.70
R5155:Alox12e UTSW 11 70,207,081 (GRCm39) missense possibly damaging 0.61
R5464:Alox12e UTSW 11 70,208,505 (GRCm39) missense probably damaging 0.99
R5471:Alox12e UTSW 11 70,210,850 (GRCm39) missense probably benign 0.17
R5501:Alox12e UTSW 11 70,207,055 (GRCm39) missense probably benign 0.01
R5915:Alox12e UTSW 11 70,209,050 (GRCm39) missense possibly damaging 0.81
R6033:Alox12e UTSW 11 70,206,839 (GRCm39) missense probably benign 0.03
R6033:Alox12e UTSW 11 70,206,839 (GRCm39) missense probably benign 0.03
R6102:Alox12e UTSW 11 70,210,849 (GRCm39) missense possibly damaging 0.65
R6380:Alox12e UTSW 11 70,211,927 (GRCm39) missense probably benign 0.00
R6452:Alox12e UTSW 11 70,210,831 (GRCm39) missense probably damaging 0.96
R7175:Alox12e UTSW 11 70,210,534 (GRCm39) missense probably damaging 1.00
R7220:Alox12e UTSW 11 70,206,731 (GRCm39) missense probably benign 0.02
R7353:Alox12e UTSW 11 70,212,261 (GRCm39) missense probably damaging 1.00
R7542:Alox12e UTSW 11 70,212,582 (GRCm39) missense possibly damaging 0.69
R7916:Alox12e UTSW 11 70,212,111 (GRCm39) missense probably benign
R8314:Alox12e UTSW 11 70,206,998 (GRCm39) missense possibly damaging 0.83
R8331:Alox12e UTSW 11 70,211,923 (GRCm39) missense probably benign 0.01
R9027:Alox12e UTSW 11 70,212,600 (GRCm39) missense possibly damaging 0.68
R9380:Alox12e UTSW 11 70,206,994 (GRCm39) critical splice donor site probably null
R9641:Alox12e UTSW 11 70,212,261 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCCATTCAAGTATGAGGCG -3'
(R):5'- TGCTGGAATTACGATAGCAAACAC -3'

Sequencing Primer
(F):5'- CCTCCCGTGTAGAGCTGAGTTTG -3'
(R):5'- TACGATAGCAAACACAAAATTATGC -3'
Posted On 2016-04-20