Incidental Mutation 'IGL02990:Alox12b'
ID 406881
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
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02990
Quality Score
Status
Chromosome 11
Chromosomal Location 69156989-69169792 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 69163206 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 205 (V205F)
Ref Sequence ENSEMBL: ENSMUSP00000035250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036424]
AlphaFold O70582
Predicted Effect probably benign
Transcript: ENSMUST00000036424
AA Change: V205F

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000035250
Gene: ENSMUSG00000032807
AA Change: V205F

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ampd3 T C 7: 110,807,963 probably benign Het
Arhgef18 G A 8: 3,444,904 V388I probably benign Het
Atp6v1c2 C T 12: 17,294,740 V169I probably damaging Het
Ccdc88b G T 19: 6,847,409 L1328I probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cluh G A 11: 74,667,765 probably null Het
Cpsf7 C A 19: 10,531,795 N23K probably benign Het
Cyp4x1 A T 4: 115,121,749 F191L probably benign Het
Dcn A G 10: 97,509,973 T216A probably benign Het
Dirc2 C A 16: 35,735,491 V200F possibly damaging Het
Drosha C T 15: 12,827,267 probably benign Het
Foxn4 A G 5: 114,272,989 S24P probably damaging Het
Gm11733 A T 11: 117,486,983 probably null Het
Hapln1 A C 13: 89,601,606 Y90S probably benign Het
Igf2r C A 17: 12,710,746 probably benign Het
Jade2 A G 11: 51,831,247 probably benign Het
Kcnh7 A T 2: 62,705,986 L1084H probably benign Het
Kif1a T C 1: 93,039,263 D1155G probably damaging Het
Llgl2 A G 11: 115,854,333 M958V probably benign Het
Lrp2 A G 2: 69,441,396 V4064A possibly damaging Het
Mau2 A G 8: 70,022,255 probably benign Het
Mllt10 T C 2: 18,123,711 probably benign Het
Myo15 A G 11: 60,479,440 T1009A probably benign Het
Myo6 T C 9: 80,276,403 probably null Het
Neil2 G T 14: 63,191,809 H12N possibly damaging Het
Nrde2 T C 12: 100,142,096 E412G probably damaging Het
Olfr114 C T 17: 37,589,668 M228I probably benign Het
Olfr1220 T C 2: 89,097,129 Y266C possibly damaging Het
Patl2 T G 2: 122,124,497 probably null Het
Pkhd1 T C 1: 20,522,963 H1642R possibly damaging Het
Ppp6r1 A G 7: 4,643,023 I199T possibly damaging Het
Prom2 T A 2: 127,528,814 T817S probably benign Het
Slc9b1 A G 3: 135,394,983 probably null Het
Sv2c A T 13: 96,088,378 I141K probably damaging Het
Tas2r139 A T 6: 42,141,104 I57F probably damaging Het
Tep1 A G 14: 50,868,246 S106P possibly damaging Het
Tnni3k T C 3: 154,957,758 D319G probably benign Het
Tom1l2 C T 11: 60,230,236 D461N probably damaging Het
Ugt1a10 T C 1: 88,055,879 L133S probably damaging Het
Usf2 T G 7: 30,955,307 Q161P probably benign Het
Vmn1r15 A G 6: 57,258,608 T154A probably benign Het
Vmn2r95 C A 17: 18,452,036 Y678* probably null Het
Other mutations in Alox12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Alox12b APN 11 69166243 missense probably damaging 1.00
IGL03106:Alox12b APN 11 69168876 nonsense probably null
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
R7519:Alox12b UTSW 11 69163213 missense probably benign 0.37
R7669:Alox12b UTSW 11 69169341 missense probably benign 0.07
R7863:Alox12b UTSW 11 69166927 missense probably damaging 1.00
R7870:Alox12b UTSW 11 69169309 missense possibly damaging 0.76
R7998:Alox12b UTSW 11 69168837 missense probably damaging 0.99
R8228:Alox12b UTSW 11 69163929 missense probably damaging 0.99
R8674:Alox12b UTSW 11 69163975 missense possibly damaging 0.49
R9055:Alox12b UTSW 11 69164058 missense possibly damaging 0.70
R9306:Alox12b UTSW 11 69169570 missense possibly damaging 0.76
X0018:Alox12b UTSW 11 69157299 missense probably damaging 1.00
Z1176:Alox12b UTSW 11 69157323 missense possibly damaging 0.95
Z1176:Alox12b UTSW 11 69157325 missense possibly damaging 0.69
Posted On 2016-08-02