Incidental Mutation 'IGL03106:Alox12b'
ID418971
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alox12b
Ensembl Gene ENSMUSG00000032807
Gene Namearachidonate 12-lipoxygenase, 12R type
Synonymse-LOX2, 12R-LOX, Aloxe2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03106
Quality Score
Status
Chromosome11
Chromosomal Location69156989-69169792 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 69168876 bp
ZygosityHeterozygous
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]
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: 24,715,119 probably benign Het
Adgrv1 T C 13: 81,472,899 N3911S probably benign Het
Amtn A G 5: 88,378,085 Q36R probably benign Het
Arg2 G A 12: 79,149,891 G129S probably damaging Het
Arhgef28 A C 13: 97,957,793 Y948D probably damaging Het
Atp10b T C 11: 43,247,477 V1195A probably benign Het
Bet1l G T 7: 140,854,610 T42K probably benign Het
Cabin1 G A 10: 75,733,628 T875I probably benign Het
Ccdc17 A G 4: 116,596,836 probably null Het
Crebrf A G 17: 26,771,319 E612G probably damaging Het
Cyp2c67 A T 19: 39,643,675 M83K probably benign Het
Dgkz A G 2: 91,940,859 S414P probably damaging Het
Dock10 G T 1: 80,568,834 H411N probably damaging Het
Dpyd A T 3: 119,195,134 T749S probably benign Het
Dsc1 C T 18: 20,086,644 probably null Het
Echdc1 A T 10: 29,322,280 M74L probably damaging Het
Edn1 C A 13: 42,305,023 T104K possibly damaging Het
Fat2 T A 11: 55,311,901 T116S probably benign Het
Fcrl5 A T 3: 87,435,883 probably null Het
Fpgt C T 3: 155,087,122 G423R probably damaging Het
Gprc5b A T 7: 118,984,193 V151E probably damaging Het
Grm5 A G 7: 88,036,070 Y465C probably damaging Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Ighmbp2 T C 19: 3,273,022 K308R possibly damaging Het
Lrch1 A T 14: 74,835,762 S146T possibly damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mterf3 T C 13: 66,930,157 K16R probably damaging Het
Ncapg T A 5: 45,695,668 H825Q probably damaging Het
Olfr1095 A C 2: 86,851,614 L28R possibly damaging Het
Olfr1138 A T 2: 87,738,118 S69T probably benign Het
Olfr1392 T A 11: 49,294,161 I280N probably damaging Het
Olfr1443 G A 19: 12,680,923 V272M possibly damaging Het
Olfr31 G A 14: 14,328,851 V247I probably damaging Het
Olfr984 A G 9: 40,100,734 V252A probably damaging Het
Pald1 A T 10: 61,347,105 M355K probably benign Het
Phc1 A G 6: 122,323,469 probably benign Het
Phkb T A 8: 86,018,466 probably benign Het
Pkn3 G T 2: 30,085,245 R506L probably damaging Het
Plod2 T C 9: 92,573,567 Y100H probably damaging Het
Prl7b1 G T 13: 27,606,935 Q56K probably benign Het
Rhot1 T A 11: 80,242,581 C229* probably null Het
Sema3a G A 5: 13,599,488 R735Q probably damaging Het
Slc18b1 A G 10: 23,826,659 *460W probably null Het
Slco6c1 T A 1: 97,066,023 probably benign Het
Slu7 T A 11: 43,442,630 V359D possibly damaging Het
Suco T C 1: 161,834,480 Y794C possibly damaging Het
Sult3a2 T C 10: 33,779,773 N70S probably benign Het
Taar2 A T 10: 23,941,297 D245V probably damaging Het
Taf1d A G 9: 15,309,941 H181R possibly damaging Het
Tmem33 T C 5: 67,263,796 S38P probably damaging Het
Traf3ip1 T C 1: 91,522,887 S519P probably benign Het
Ttc12 T C 9: 49,458,062 K253E possibly damaging Het
Other mutations in Alox12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Alox12b APN 11 69166243 missense probably damaging 1.00
IGL02990:Alox12b APN 11 69163206 missense probably benign 0.17
R0126:Alox12b UTSW 11 69167471 missense probably benign 0.36
R0135:Alox12b UTSW 11 69162748 missense probably benign 0.06
R0305:Alox12b UTSW 11 69167379 missense probably benign 0.25
R0432:Alox12b UTSW 11 69169556 missense probably damaging 1.00
R0828:Alox12b UTSW 11 69166306 missense possibly damaging 0.89
R0854:Alox12b UTSW 11 69164476 critical splice donor site probably null
R1139:Alox12b UTSW 11 69164405 missense probably damaging 1.00
R1558:Alox12b UTSW 11 69165885 missense probably damaging 1.00
R1870:Alox12b UTSW 11 69158373 missense possibly damaging 0.94
R4088:Alox12b UTSW 11 69158385 missense probably benign 0.14
R4195:Alox12b UTSW 11 69169600 missense probably benign 0.02
R4248:Alox12b UTSW 11 69163605 missense probably benign
R4371:Alox12b UTSW 11 69169616 missense possibly damaging 0.86
R4774:Alox12b UTSW 11 69163207 missense probably benign 0.00
R5108:Alox12b UTSW 11 69157382 missense probably benign 0.11
R5252:Alox12b UTSW 11 69165936 missense probably damaging 1.00
R5579:Alox12b UTSW 11 69162932 missense probably benign 0.04
R6000:Alox12b UTSW 11 69169568 missense probably damaging 0.98
R6168:Alox12b UTSW 11 69169634 missense probably damaging 1.00
R6322:Alox12b UTSW 11 69158373 missense possibly damaging 0.94
R6634:Alox12b UTSW 11 69168821 nonsense probably null
R7026:Alox12b UTSW 11 69157305 missense possibly damaging 0.66
X0018:Alox12b UTSW 11 69157299 missense probably damaging 1.00
Posted On2016-08-02