Incidental Mutation 'R9544:Alox12b'
ID 720014
Institutional Source Beutler Lab
Gene Symbol Alox12b
Ensembl Gene ENSMUSG00000032807
Gene Name arachidonate 12-lipoxygenase, 12R type
Synonyms e-LOX2, 12R-LOX, Aloxe2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9544 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 69047898-69060617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69054812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 272 (I272F)
Ref Sequence ENSEMBL: ENSMUSP00000035250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036424]
AlphaFold O70582
Predicted Effect possibly damaging
Transcript: ENSMUST00000036424
AA Change: I272F

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035250
Gene: ENSMUSG00000032807
AA Change: I272F

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: 99.1%
  • 20x: 96.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik A G 6: 133,271,202 (GRCm39) E82G possibly damaging Het
Adra2a C G 19: 54,035,454 (GRCm39) P270R probably benign Het
Als2 C A 1: 59,250,468 (GRCm39) E425D probably benign Het
Arhgap21 C A 2: 20,858,938 (GRCm39) C1252F possibly damaging Het
Arhgap31 T G 16: 38,423,976 (GRCm39) T697P probably damaging Het
Aspm C A 1: 139,385,523 (GRCm39) T389K probably benign Het
B4galnt3 T A 6: 120,209,905 (GRCm39) I73F probably damaging Het
Btn2a2 A G 13: 23,672,008 (GRCm39) V27A probably benign Het
Cep97 A T 16: 55,735,303 (GRCm39) N570K possibly damaging Het
Cfh T C 1: 140,036,266 (GRCm39) I751V probably benign Het
Chd3 A G 11: 69,241,046 (GRCm39) C1516R probably damaging Het
Cul3 A G 1: 80,258,576 (GRCm39) F487L probably damaging Het
Dock1 T C 7: 134,348,186 (GRCm39) S266P possibly damaging Het
Dock6 A T 9: 21,732,830 (GRCm39) Y1118* probably null Het
Dolpp1 T A 2: 30,282,515 (GRCm39) Y23N probably damaging Het
Egf T C 3: 129,511,617 (GRCm39) M517V probably benign Het
Endou C A 15: 97,609,969 (GRCm39) K442N probably damaging Het
Fam210b C T 2: 172,194,633 (GRCm39) R162W probably damaging Het
Fbxw27 ATGT AT 9: 109,602,322 (GRCm39) probably null Het
Flt3 T A 5: 147,291,442 (GRCm39) Q641L possibly damaging Het
Ighv3-3 T A 12: 114,160,270 (GRCm39) I47F probably damaging Het
Il4 C T 11: 53,504,837 (GRCm39) R76H probably damaging Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Kcnq2 T G 2: 180,729,407 (GRCm39) D532A probably damaging Het
Krtap11-1 A C 16: 89,368,062 (GRCm39) probably benign Het
Lamp3 T A 16: 19,494,832 (GRCm39) probably null Het
Lcn3 A T 2: 25,656,151 (GRCm39) I69L probably benign Het
Lrrc43 A T 5: 123,641,307 (GRCm39) H497L probably damaging Het
Luc7l2 T G 6: 38,580,315 (GRCm39) S305A unknown Het
Malrd1 C T 2: 15,640,809 (GRCm39) T513I unknown Het
Mllt3 T A 4: 87,759,418 (GRCm39) D210V probably damaging Het
Mmp14 A G 14: 54,673,251 (GRCm39) H53R possibly damaging Het
Ndst4 A C 3: 125,476,808 (GRCm39) H11P probably damaging Het
Nln G A 13: 104,198,356 (GRCm39) T152M probably benign Het
Oas1c A G 5: 120,946,202 (GRCm39) F99L probably benign Het
Or10s1 T C 9: 39,986,353 (GRCm39) L254P probably damaging Het
Or1e35 T C 11: 73,797,637 (GRCm39) K227R probably benign Het
Or1j11 G T 2: 36,311,784 (GRCm39) A125S probably damaging Het
Or5w15 G A 2: 87,568,644 (GRCm39) T8I probably benign Het
Or7g25 T A 9: 19,160,561 (GRCm39) I45F probably damaging Het
Pappa2 C A 1: 158,784,817 (GRCm39) Q64H probably damaging Het
Pcdhb15 T C 18: 37,608,948 (GRCm39) F727L probably benign Het
Pcsk1 A T 13: 75,259,039 (GRCm39) N271I probably damaging Het
Pkhd1l1 G A 15: 44,410,239 (GRCm39) G2582D probably damaging Het
Psma4 A T 9: 54,862,245 (GRCm39) Q123L probably damaging Het
Selenbp2 A T 3: 94,605,368 (GRCm39) I127F possibly damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc29a3 G T 10: 60,551,960 (GRCm39) C361* probably null Het
Slx4 C A 16: 3,797,917 (GRCm39) R1489L probably damaging Het
Sorl1 A C 9: 41,993,105 (GRCm39) Y306* probably null Het
Tbc1d16 G T 11: 119,101,335 (GRCm39) H58Q probably damaging Het
Tfdp2 A G 9: 96,169,663 (GRCm39) T5A probably damaging Het
Thbs1 G T 2: 117,953,932 (GRCm39) G1061V probably damaging Het
Timm29 G A 9: 21,504,662 (GRCm39) R110H probably damaging Het
Tmf1 C T 6: 97,147,293 (GRCm39) E558K possibly damaging Het
Trappc11 T C 8: 47,972,713 (GRCm39) T287A possibly damaging Het
Unc119b G A 5: 115,272,827 (GRCm39) T48M probably benign Het
Vmn1r123 T C 7: 20,896,987 (GRCm39) I293T probably benign Het
Vmn2r67 G A 7: 84,786,317 (GRCm39) H563Y possibly damaging Het
Vps8 G T 16: 21,336,893 (GRCm39) V763L probably benign Het
Wdr3 A T 3: 100,050,752 (GRCm39) Y722* probably null Het
Xrn1 A G 9: 95,920,756 (GRCm39) T1339A probably benign Het
Zfp827 T A 8: 79,905,604 (GRCm39) H860Q 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
R8228:Alox12b UTSW 11 69,054,755 (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
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'- TGAAAGCCATCATCCTGTGCC -3'
(R):5'- AGGGGCAATAGAGATGCCTC -3'

Sequencing Primer
(F):5'- TCTGGACATTCAACACAAAGCTAAGG -3'
(R):5'- TGCCTCAGAAGAAGCCAGCG -3'
Posted On 2022-07-18