Incidental Mutation 'R8674:Alox12b'
ID 661311
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 068529-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8674 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69047898-69060617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69054801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 268 (Y268C)
Ref Sequence ENSEMBL: ENSMUSP00000035250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036424]
AlphaFold O70582
Predicted Effect possibly damaging
Transcript: ENSMUST00000036424
AA Change: Y268C

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035250
Gene: ENSMUSG00000032807
AA Change: Y268C

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (38/38)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,956,696 (GRCm39) I165V probably benign Het
Adgrg1 A T 8: 95,727,526 (GRCm39) probably benign Het
Ahnak T C 19: 8,983,360 (GRCm39) I1548T probably damaging Het
Chd8 T C 14: 52,450,463 (GRCm39) D1465G probably damaging Het
Csgalnact1 A G 8: 68,826,268 (GRCm39) V350A possibly damaging Het
Cyp4a29 A T 4: 115,106,882 (GRCm39) I180F probably benign Het
Dcaf1 T A 9: 106,740,896 (GRCm39) D1294E probably damaging Het
Defb47 T C 14: 63,235,579 (GRCm39) L10P possibly damaging Het
Gpr179 T C 11: 97,225,873 (GRCm39) E2094G probably benign Het
Gtse1 C A 15: 85,746,376 (GRCm39) P64Q probably damaging Het
Gys2 A G 6: 142,376,048 (GRCm39) V538A probably benign Het
Hmgxb3 G A 18: 61,269,303 (GRCm39) S993L probably benign Het
Lgals8 A T 13: 12,462,117 (GRCm39) F238I probably damaging Het
Ltn1 A C 16: 87,195,673 (GRCm39) D1284E probably benign Het
Myh10 A G 11: 68,705,257 (GRCm39) E1925G probably damaging Het
Nck1 T C 9: 100,390,580 (GRCm39) N43S probably damaging Het
Nsun5 C A 5: 135,400,394 (GRCm39) T145N probably damaging Het
Or10d1 T C 9: 39,484,249 (GRCm39) Y102C probably damaging Het
Or10d3 A G 9: 39,461,675 (GRCm39) F164S probably damaging Het
Or10x4 A G 1: 174,219,258 (GRCm39) T208A probably damaging Het
Or4c103 T A 2: 88,513,774 (GRCm39) T101S probably benign Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Ppp4r4 A G 12: 103,562,720 (GRCm39) E563G probably damaging Het
Pramel42 T C 5: 94,685,605 (GRCm39) C422R probably damaging Het
Rab11fip5 T A 6: 85,318,910 (GRCm39) M660L probably benign Het
Rbm47 T A 5: 66,176,742 (GRCm39) N527I possibly damaging Het
Rpl12 T A 2: 32,852,122 (GRCm39) probably benign Het
Slc22a14 C A 9: 119,007,467 (GRCm39) W314L probably null Het
Spen C T 4: 141,197,681 (GRCm39) A3396T probably benign Het
Sphkap A G 1: 83,255,565 (GRCm39) V728A probably benign Het
Spint4 T A 2: 164,542,902 (GRCm39) probably null Het
Sptbn1 A G 11: 30,089,352 (GRCm39) S637P possibly damaging Het
Trpm7 T C 2: 126,641,086 (GRCm39) probably benign Het
Trrap C T 5: 144,727,842 (GRCm39) T521I probably benign Het
Vmn2r44 T C 7: 8,380,822 (GRCm39) Y357C probably damaging Het
Vwa2 A G 19: 56,875,427 (GRCm39) D82G possibly damaging Het
Zdhhc17 A G 10: 110,785,540 (GRCm39) I424T probably benign Het
Zmiz1 A G 14: 25,647,410 (GRCm39) I409M probably benign Het
Zscan18 T C 7: 12,504,827 (GRCm39) probably benign 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
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'- TTGAAAGCCATCATCCTGTGCC -3'
(R):5'- AGGGGCAATAGAGATGCCTC -3'

Sequencing Primer
(F):5'- TCTGGACATTCAACACAAAGCTAAGG -3'
(R):5'- TGCCTCAGAAGAAGCCAGCG -3'
Posted On 2021-03-08