Incidental Mutation 'IGL03106:Alox12b'
ID 418971
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03106
Quality Score
Status
Chromosome 11
Chromosomal Location 69047898-69060617 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 69059702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 585 (Q585*)
Ref Sequence ENSEMBL: ENSMUSP00000035250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036424]
AlphaFold O70582
Predicted Effect probably null
Transcript: ENSMUST00000036424
AA Change: Q585*
SMART Domains Protein: ENSMUSP00000035250
Gene: ENSMUSG00000032807
AA Change: Q585*

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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 G T 8: 25,205,135 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,621,018 (GRCm39) N3911S probably benign Het
Amtn A G 5: 88,525,944 (GRCm39) Q36R probably benign Het
Arg2 G A 12: 79,196,665 (GRCm39) G129S probably damaging Het
Arhgef28 A C 13: 98,094,301 (GRCm39) Y948D probably damaging Het
Atp10b T C 11: 43,138,304 (GRCm39) V1195A probably benign Het
Bet1l G T 7: 140,434,523 (GRCm39) T42K probably benign Het
Cabin1 G A 10: 75,569,462 (GRCm39) T875I probably benign Het
Ccdc17 A G 4: 116,454,033 (GRCm39) probably null Het
Crebrf A G 17: 26,990,293 (GRCm39) E612G probably damaging Het
Cyp2c67 A T 19: 39,632,119 (GRCm39) M83K probably benign Het
Dgkz A G 2: 91,771,204 (GRCm39) S414P probably damaging Het
Dock10 G T 1: 80,546,551 (GRCm39) H411N probably damaging Het
Dpyd A T 3: 118,988,783 (GRCm39) T749S probably benign Het
Dsc1 C T 18: 20,219,701 (GRCm39) probably null Het
Echdc1 A T 10: 29,198,276 (GRCm39) M74L probably damaging Het
Edn1 C A 13: 42,458,499 (GRCm39) T104K possibly damaging Het
Fat2 T A 11: 55,202,727 (GRCm39) T116S probably benign Het
Fcrl5 A T 3: 87,343,190 (GRCm39) probably null Het
Fpgt C T 3: 154,792,759 (GRCm39) G423R probably damaging Het
Gprc5b A T 7: 118,583,416 (GRCm39) V151E probably damaging Het
Grm5 A G 7: 87,685,278 (GRCm39) Y465C probably damaging Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Ighmbp2 T C 19: 3,323,022 (GRCm39) K308R possibly damaging Het
Lrch1 A T 14: 75,073,202 (GRCm39) S146T possibly damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mterf3 T C 13: 67,078,221 (GRCm39) K16R probably damaging Het
Ncapg T A 5: 45,853,010 (GRCm39) H825Q probably damaging Het
Or2t1 G A 14: 14,328,851 (GRCm38) V247I probably damaging Het
Or2y1f T A 11: 49,184,988 (GRCm39) I280N probably damaging Het
Or4d5 A G 9: 40,012,030 (GRCm39) V252A probably damaging Het
Or5b95 G A 19: 12,658,287 (GRCm39) V272M possibly damaging Het
Or5t15 A C 2: 86,681,958 (GRCm39) L28R possibly damaging Het
Or5w15 A T 2: 87,568,462 (GRCm39) S69T probably benign Het
Pald1 A T 10: 61,182,884 (GRCm39) M355K probably benign Het
Phc1 A G 6: 122,300,428 (GRCm39) probably benign Het
Phkb T A 8: 86,745,095 (GRCm39) probably benign Het
Pkn3 G T 2: 29,975,257 (GRCm39) R506L probably damaging Het
Plod2 T C 9: 92,455,620 (GRCm39) Y100H probably damaging Het
Prl7b1 G T 13: 27,790,918 (GRCm39) Q56K probably benign Het
Rhot1 T A 11: 80,133,407 (GRCm39) C229* probably null Het
Sema3a G A 5: 13,649,456 (GRCm39) R735Q probably damaging Het
Slc18b1 A G 10: 23,702,557 (GRCm39) *460W probably null Het
Slco6c1 T A 1: 96,993,748 (GRCm39) probably benign Het
Slu7 T A 11: 43,333,457 (GRCm39) V359D possibly damaging Het
Suco T C 1: 161,662,049 (GRCm39) Y794C possibly damaging Het
Sult3a2 T C 10: 33,655,769 (GRCm39) N70S probably benign Het
Taar2 A T 10: 23,817,195 (GRCm39) D245V probably damaging Het
Taf1d A G 9: 15,221,237 (GRCm39) H181R possibly damaging Het
Tmem33 T C 5: 67,421,139 (GRCm39) S38P probably damaging Het
Traf3ip1 T C 1: 91,450,609 (GRCm39) S519P probably benign Het
Ttc12 T C 9: 49,369,362 (GRCm39) K253E possibly 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
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
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
Posted On 2016-08-02