Incidental Mutation 'R8228:Alox12b'
ID 637064
Institutional Source Beutler Lab
Gene Symbol Alox12b
Ensembl Gene ENSMUSG00000032807
Gene Name arachidonate 12-lipoxygenase, 12R type
Synonyms e-LOX2, 12R-LOX, Aloxe2
MMRRC Submission 067661-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8228 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 69047898-69060617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69054755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 253 (Y253H)
Ref Sequence ENSEMBL: ENSMUSP00000035250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036424]
AlphaFold O70582
Predicted Effect probably damaging
Transcript: ENSMUST00000036424
AA Change: Y253H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035250
Gene: ENSMUSG00000032807
AA Change: Y253H

DomainStartEndE-ValueType
LH2 2 116 9.9e-32 SMART
low complexity region 164 175 N/A INTRINSIC
Pfam:Lipoxygenase 228 686 5.3e-59 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene can prevent the formation of the epidermal permeability barrier and cause an ichthyosiform phenotype. [provided by RefSeq, Sep 2015]
PHENOTYPE: Neonatal homozygous mutant mice exhibit reddened skin that quickly dehydrates and appears scaly. The epidermis is hyperkeratotic, and its permeability barrier function is compromised. Homozygotes die within 24 hours of birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T C 6: 72,324,500 (GRCm39) probably null Het
1700008O03Rik A G 7: 44,009,729 (GRCm39) Y158H probably benign Het
4930438A08Rik T A 11: 58,182,381 (GRCm39) I252N Het
A930011G23Rik G A 5: 99,524,980 (GRCm39) P60S probably damaging Het
Abcf1 A G 17: 36,271,933 (GRCm39) probably null Het
AI987944 T C 7: 41,026,260 (GRCm39) T14A probably damaging Het
Anapc1 T A 2: 128,461,837 (GRCm39) K1756* probably null Het
Arid5b T A 10: 68,114,536 (GRCm39) E2V possibly damaging Het
Atp13a1 G A 8: 70,251,569 (GRCm39) V545M probably damaging Het
Atp2b4 TTCTTC TTCTTCCTCTTC 1: 133,629,459 (GRCm39) probably benign Het
Cert1 A G 13: 96,679,723 (GRCm39) T18A probably benign Het
Cfap119 G A 7: 127,184,179 (GRCm39) T239M probably benign Het
Col1a1 T G 11: 94,836,426 (GRCm39) probably null Het
Csdc2 C T 15: 81,833,411 (GRCm39) T136I possibly damaging Het
Dpp9 A T 17: 56,498,129 (GRCm39) I609N probably damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Gjb6 T C 14: 57,361,926 (GRCm39) R112G probably benign Het
Gm19410 A G 8: 36,252,992 (GRCm39) K646E possibly damaging Het
Grik5 T C 7: 24,709,933 (GRCm39) E934G probably damaging Het
Grik5 A T 7: 24,745,735 (GRCm39) F446Y possibly damaging Het
Iffo2 C G 4: 139,302,483 (GRCm39) N75K probably damaging Het
Kif15 A G 9: 122,821,041 (GRCm39) N649D possibly damaging Het
Lrit2 G A 14: 36,791,148 (GRCm39) A276T probably damaging Het
Mcm8 T C 2: 132,684,714 (GRCm39) probably null Het
Mmut A G 17: 41,248,219 (GRCm39) E82G possibly damaging Het
Or4n4 A G 14: 50,518,997 (GRCm39) S238P probably damaging Het
Or5w8 T A 2: 87,688,284 (GRCm39) M255K probably benign Het
Pcdhga8 A G 18: 37,861,236 (GRCm39) Q764R probably benign Het
Pcgf2 T C 11: 97,582,865 (GRCm39) Y138C probably benign Het
Phf20l1 G T 15: 66,511,789 (GRCm39) V922F possibly damaging Het
Pkd1l2 A T 8: 117,792,514 (GRCm39) I426N probably damaging Het
Psmd6 T C 14: 14,116,843 (GRCm38) N160S possibly damaging Het
Robo1 A G 16: 72,809,768 (GRCm39) D1172G probably benign Het
Sdr9c7 T C 10: 127,734,544 (GRCm39) Y11H possibly damaging Het
Sec24c G T 14: 20,739,975 (GRCm39) A635S probably benign Het
Tex2 T C 11: 106,457,997 (GRCm39) I478V probably benign Het
Traip T C 9: 107,838,265 (GRCm39) M166T probably benign Het
Trdn T C 10: 33,033,014 (GRCm39) S80P probably damaging Het
Trim46 G T 3: 89,142,255 (GRCm39) T744N probably benign Het
Tsc1 C A 2: 28,566,141 (GRCm39) A520D probably benign Het
Usp36 T C 11: 118,155,716 (GRCm39) E852G possibly damaging Het
Vmn2r101 C T 17: 19,811,284 (GRCm39) T456I probably benign Het
Zc3h7a A G 16: 10,956,954 (GRCm39) F885S probably damaging Het
Zfp335 G A 2: 164,746,818 (GRCm39) R354W probably damaging Het
Zfp456 C A 13: 67,514,533 (GRCm39) C391F probably damaging Het
Other mutations in Alox12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Alox12b APN 11 69,057,069 (GRCm39) missense probably damaging 1.00
IGL02990:Alox12b APN 11 69,054,032 (GRCm39) missense probably benign 0.17
IGL03106:Alox12b APN 11 69,059,702 (GRCm39) nonsense probably null
R0126:Alox12b UTSW 11 69,058,297 (GRCm39) missense probably benign 0.36
R0135:Alox12b UTSW 11 69,053,574 (GRCm39) missense probably benign 0.06
R0305:Alox12b UTSW 11 69,058,205 (GRCm39) missense probably benign 0.25
R0432:Alox12b UTSW 11 69,060,382 (GRCm39) missense probably damaging 1.00
R0828:Alox12b UTSW 11 69,057,132 (GRCm39) missense possibly damaging 0.89
R0854:Alox12b UTSW 11 69,055,302 (GRCm39) critical splice donor site probably null
R1139:Alox12b UTSW 11 69,055,231 (GRCm39) missense probably damaging 1.00
R1558:Alox12b UTSW 11 69,056,711 (GRCm39) missense probably damaging 1.00
R1870:Alox12b UTSW 11 69,049,199 (GRCm39) missense possibly damaging 0.94
R4088:Alox12b UTSW 11 69,049,211 (GRCm39) missense probably benign 0.14
R4195:Alox12b UTSW 11 69,060,426 (GRCm39) missense probably benign 0.02
R4248:Alox12b UTSW 11 69,054,431 (GRCm39) missense probably benign
R4371:Alox12b UTSW 11 69,060,442 (GRCm39) missense possibly damaging 0.86
R4774:Alox12b UTSW 11 69,054,033 (GRCm39) missense probably benign 0.00
R5108:Alox12b UTSW 11 69,048,208 (GRCm39) missense probably benign 0.11
R5252:Alox12b UTSW 11 69,056,762 (GRCm39) missense probably damaging 1.00
R5579:Alox12b UTSW 11 69,053,758 (GRCm39) missense probably benign 0.04
R6000:Alox12b UTSW 11 69,060,394 (GRCm39) missense probably damaging 0.98
R6168:Alox12b UTSW 11 69,060,460 (GRCm39) missense probably damaging 1.00
R6322:Alox12b UTSW 11 69,049,199 (GRCm39) missense possibly damaging 0.94
R6634:Alox12b UTSW 11 69,059,647 (GRCm39) nonsense probably null
R7026:Alox12b UTSW 11 69,048,131 (GRCm39) missense possibly damaging 0.66
R7519:Alox12b UTSW 11 69,054,039 (GRCm39) missense probably benign 0.37
R7669:Alox12b UTSW 11 69,060,167 (GRCm39) missense probably benign 0.07
R7863:Alox12b UTSW 11 69,057,753 (GRCm39) missense probably damaging 1.00
R7870:Alox12b UTSW 11 69,060,135 (GRCm39) missense possibly damaging 0.76
R7998:Alox12b UTSW 11 69,059,663 (GRCm39) missense probably damaging 0.99
R8674:Alox12b UTSW 11 69,054,801 (GRCm39) missense possibly damaging 0.49
R9055:Alox12b UTSW 11 69,054,884 (GRCm39) missense possibly damaging 0.70
R9306:Alox12b UTSW 11 69,060,396 (GRCm39) missense possibly damaging 0.76
R9544:Alox12b UTSW 11 69,054,812 (GRCm39) missense possibly damaging 0.65
R9568:Alox12b UTSW 11 69,054,836 (GRCm39) missense possibly damaging 0.95
X0018:Alox12b UTSW 11 69,048,125 (GRCm39) missense probably damaging 1.00
Z1176:Alox12b UTSW 11 69,048,151 (GRCm39) missense possibly damaging 0.69
Z1176:Alox12b UTSW 11 69,048,149 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AATGGTGGGTGCATCCTTC -3'
(R):5'- ATGCCTCAGAAGAAGCCAGC -3'

Sequencing Primer
(F):5'- CATCCTTCTGAGGCTTTTTGAAAG -3'
(R):5'- GGCAAGCCAGACAGGACCTC -3'
Posted On 2020-07-13