Incidental Mutation 'R6033:Alox12e'
ID 486404
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 044205-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6033 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 70206436-70213454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70206839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 616 (G616D)
Ref Sequence ENSEMBL: ENSMUSP00000019051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019051]
AlphaFold P55249
Predicted Effect probably benign
Transcript: ENSMUST00000019051
AA Change: G616D

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: G616D

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T A 8: 84,645,551 (GRCm39) V58E probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alas1 A G 9: 106,118,403 (GRCm39) S240P probably damaging Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Ccdc150 G T 1: 54,324,787 (GRCm39) probably null Het
Chct1 A G 11: 85,069,198 (GRCm39) E72G probably damaging Het
Cmtm8 T C 9: 114,625,141 (GRCm39) T97A probably damaging Het
Cnmd T C 14: 79,898,945 (GRCm39) S36G probably benign Het
Dnah3 A C 7: 119,670,870 (GRCm39) N609K probably benign Het
Dph1 C T 11: 75,082,023 (GRCm39) probably benign Het
Drosha G A 15: 12,926,085 (GRCm39) A1225T probably benign Het
Eid3 T A 10: 82,703,487 (GRCm39) I316K probably damaging Het
Erich6 A G 3: 58,530,622 (GRCm39) L449S probably benign Het
Fhod1 T C 8: 106,063,066 (GRCm39) probably benign Het
Glra1 A G 11: 55,418,245 (GRCm39) Y250H probably damaging Het
Gm21972 T C 1: 86,064,817 (GRCm39) Y950H probably damaging Het
Gm6712 T A 17: 17,514,678 (GRCm39) noncoding transcript Het
Grb7 C T 11: 98,346,023 (GRCm39) probably null Het
Hivep1 A G 13: 42,310,583 (GRCm39) E941G probably benign Het
Homer2 A C 7: 81,268,427 (GRCm39) S78A possibly damaging Het
Ica1 T A 6: 8,630,799 (GRCm39) probably null Het
Ifna12 T C 4: 88,521,154 (GRCm39) E131G possibly damaging Het
Igbp1b T C 6: 138,635,207 (GRCm39) Y79C probably damaging Het
Incenp C T 19: 9,850,061 (GRCm39) V871I probably damaging Het
Jaml G A 9: 45,000,008 (GRCm39) G60D probably damaging Het
Kcp C T 6: 29,493,193 (GRCm39) C110Y probably damaging Het
Manba T C 3: 135,255,022 (GRCm39) V460A probably benign Het
Myrfl A T 10: 116,685,006 (GRCm39) C125S probably benign Het
Ncan T C 8: 70,565,240 (GRCm39) D229G probably damaging Het
Ncoa4-ps A G 12: 119,225,475 (GRCm39) noncoding transcript Het
Nlrp10 A T 7: 108,523,784 (GRCm39) D565E probably benign Het
Npas2 T C 1: 39,377,261 (GRCm39) V541A probably damaging Het
Nsg2 G A 11: 32,005,058 (GRCm39) V87M possibly damaging Het
Or5al6 A T 2: 85,976,613 (GRCm39) V155E probably damaging Het
Prkd2 C T 7: 16,599,639 (GRCm39) R701C probably damaging Het
Prr3 A T 17: 36,289,516 (GRCm39) probably null Het
Prr5 A G 15: 84,626,126 (GRCm39) E67G probably damaging Het
Prss36 T C 7: 127,533,739 (GRCm39) R22G probably benign Het
Slc45a4 G A 15: 73,453,825 (GRCm39) A716V probably damaging Het
Slc46a1 T C 11: 78,356,833 (GRCm39) probably null Het
Slc6a5 T C 7: 49,609,099 (GRCm39) I768T probably benign Het
Slco6c1 C T 1: 97,009,041 (GRCm39) probably null Het
Taar2 A T 10: 23,816,874 (GRCm39) H138L probably benign Het
Taf2 A C 15: 54,922,297 (GRCm39) L330R probably damaging Het
Tgm5 T C 2: 120,901,210 (GRCm39) probably null Het
Tmed4 A T 11: 6,224,491 (GRCm39) Y56* probably null Het
Tmem156 A T 5: 65,232,964 (GRCm39) F135L probably benign Het
Ttll6 T C 11: 96,025,713 (GRCm39) S65P probably damaging Het
Ttn C T 2: 76,557,171 (GRCm39) G28199R probably damaging Het
Ubn2 T A 6: 38,447,159 (GRCm39) probably null Het
Unc80 A T 1: 66,512,419 (GRCm39) T110S possibly damaging Het
Vmn2r72 A T 7: 85,387,137 (GRCm39) V809E probably damaging Het
Zbtb2 A G 10: 4,318,599 (GRCm39) F476L probably damaging Het
Zbtb24 T C 10: 41,340,397 (GRCm39) F498L probably damaging Het
Zfp280d T A 9: 72,236,419 (GRCm39) L494Q probably damaging Het
Zfp281 T C 1: 136,554,464 (GRCm39) S481P probably benign 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
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'- GAGGACAAGACTGTGCACAC -3'
(R):5'- CAGATAACAGTCACCAAGTTCCTTG -3'

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