Incidental Mutation 'R6102:Alox12e'
ID 485326
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 044252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6102 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 70206436-70213454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70210849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 290 (I290T)
Ref Sequence ENSEMBL: ENSMUSP00000019051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019051]
AlphaFold P55249
Predicted Effect possibly damaging
Transcript: ENSMUST00000019051
AA Change: I290T

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: I290T

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apeh T A 9: 107,963,638 (GRCm39) D559V probably damaging Het
Aspm T A 1: 139,405,197 (GRCm39) Y1361* probably null Het
Atad5 G T 11: 80,002,398 (GRCm39) probably null Het
Ccr4 C T 9: 114,325,561 (GRCm39) probably null Het
Clasrp G A 7: 19,320,393 (GRCm39) probably benign Het
Cldn23 A G 8: 36,292,705 (GRCm39) M261T probably benign Het
Cmya5 T C 13: 93,230,739 (GRCm39) M1450V probably benign Het
Cyp4v3 T A 8: 45,773,197 (GRCm39) E202V probably damaging Het
Dnah7a A T 1: 53,598,299 (GRCm39) V1412E probably benign Het
Dnah9 A G 11: 65,881,342 (GRCm39) S2578P probably damaging Het
Dsc2 T A 18: 20,180,165 (GRCm39) Y196F probably benign Het
Exoc1 T C 5: 76,685,626 (GRCm39) S113P probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Frs3 C T 17: 48,013,596 (GRCm39) H173Y probably damaging Het
Ginm1 G T 10: 7,644,260 (GRCm39) T323K probably benign Het
Golgb1 T C 16: 36,733,227 (GRCm39) S825P probably damaging Het
Hs3st3b1 A T 11: 63,812,681 (GRCm39) C11* probably null Het
Ighv3-3 G C 12: 114,160,080 (GRCm39) A110G possibly damaging Het
Igkv6-20 G A 6: 70,312,853 (GRCm39) H107Y probably benign Het
Kcnj16 A G 11: 110,916,403 (GRCm39) E355G probably benign Het
Lig4 C T 8: 10,022,872 (GRCm39) G303S probably damaging Het
Map1b A C 13: 99,562,381 (GRCm39) V2443G unknown Het
Map3k6 T C 4: 132,974,442 (GRCm39) probably null Het
Mmp13 A G 9: 7,276,688 (GRCm39) Q261R probably benign Het
Mphosph9 T A 5: 124,435,772 (GRCm39) I554F possibly damaging Het
Mrgpra3 A T 7: 47,239,897 (GRCm39) F10I possibly damaging Het
Ms4a18 G A 19: 10,990,887 (GRCm39) T69I probably benign Het
Mtmr3 T C 11: 4,437,673 (GRCm39) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm39) Q188L probably benign Het
Nfatc2 A G 2: 168,361,427 (GRCm39) probably benign Het
Or5i1 T C 2: 87,613,192 (GRCm39) F103L probably damaging Het
Or5p70 T C 7: 107,994,491 (GRCm39) S55P probably damaging Het
Or7g34 T C 9: 19,478,318 (GRCm39) M121V possibly damaging Het
Paip2b A C 6: 83,785,828 (GRCm39) V134G possibly damaging Het
Pax3 T C 1: 78,108,984 (GRCm39) T225A probably damaging Het
Pbx1 C A 1: 168,011,134 (GRCm39) A298S probably benign Het
Pcdhac2 A T 18: 37,279,335 (GRCm39) K772* probably null Het
Pcsk4 A T 10: 80,161,651 (GRCm39) Y163* probably null Het
Plcd3 A G 11: 102,971,470 (GRCm39) V58A probably damaging Het
Plek2 T A 12: 78,946,867 (GRCm39) T57S possibly damaging Het
Plscr2 C T 9: 92,169,721 (GRCm39) T57I probably benign Het
Ppp2r5b A G 19: 6,284,768 (GRCm39) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm39) probably benign Het
Psme4 T A 11: 30,815,567 (GRCm39) L1693H probably damaging Het
Rrbp1 T A 2: 143,830,313 (GRCm39) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Serpina3b A T 12: 104,100,428 (GRCm39) T337S probably benign Het
Slc18a2 T C 19: 59,282,310 (GRCm39) Y506H probably benign Het
Slc9a9 A G 9: 94,818,482 (GRCm39) Y292C probably benign Het
Spta1 T C 1: 174,052,086 (GRCm39) V1840A probably benign Het
Ssb T C 2: 69,701,552 (GRCm39) *416Q probably null Het
Strada A G 11: 106,059,262 (GRCm39) V209A probably benign Het
Tbc1d31 A T 15: 57,799,489 (GRCm39) D225V probably damaging Het
Tgm4 T C 9: 122,885,600 (GRCm39) F381L probably benign Het
Tmem120b T A 5: 123,253,207 (GRCm39) Y203N probably damaging Het
Tmem176b A G 6: 48,812,868 (GRCm39) V109A probably benign Het
Tnfrsf11a C A 1: 105,747,671 (GRCm39) L201M possibly damaging Het
Ttn C A 2: 76,804,694 (GRCm39) probably null Het
Tubb2a T C 13: 34,259,326 (GRCm39) I155V probably benign Het
Vmn1r5 A G 6: 56,963,099 (GRCm39) D258G probably damaging Het
Vmn2r121 T C X: 123,043,272 (GRCm39) T120A probably benign Het
Vmn2r19 A T 6: 123,306,907 (GRCm39) I472F probably damaging Het
Vwa3a A G 7: 120,375,361 (GRCm39) probably null Het
Zfp273 A G 13: 67,970,466 (GRCm39) Y5C probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp825 A G 13: 74,628,772 (GRCm39) L248P 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
R4463:Alox12e UTSW 11 70,209,082 (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
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'- TGGAAGTCAGAGCTTCGGAC -3'
(R):5'- CAGTTCTGGGGAGATCAGTTGC -3'

Sequencing Primer
(F):5'- AGAGCTTCGGACCCAGATCTTG -3'
(R):5'- AGTTGCTTAGTATAAAATTGTTGGGC -3'
Posted On 2017-08-16