Incidental Mutation 'R7870:Alox12b'
ID 608059
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 045922-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7870 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 69047898-69060617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69060135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 616 (M616T)
Ref Sequence ENSEMBL: ENSMUSP00000035250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036424]
AlphaFold O70582
Predicted Effect possibly damaging
Transcript: ENSMUST00000036424
AA Change: M616T

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035250
Gene: ENSMUSG00000032807
AA Change: M616T

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: 99.7%
  • 20x: 99.0%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,441,505 (GRCm39) F171L probably benign Het
2410137M14Rik A T 17: 37,288,909 (GRCm39) C152S unknown Het
Alb T C 5: 90,620,488 (GRCm39) F533L possibly damaging Het
Atxn2l A G 7: 126,091,924 (GRCm39) F968L probably benign Het
Cadps2 G T 6: 23,263,641 (GRCm39) H1227Q probably benign Het
Cdh18 A T 15: 23,474,413 (GRCm39) D761V possibly damaging Het
Cdkl3 T C 11: 51,909,284 (GRCm39) probably null Het
Chrdl2 T C 7: 99,659,249 (GRCm39) L9P unknown Het
Ctr9 A G 7: 110,651,618 (GRCm39) E946G unknown Het
Cygb T A 11: 116,540,116 (GRCm39) T178S probably benign Het
Cyp2c67 A C 19: 39,597,669 (GRCm39) M443R probably damaging Het
Dnah12 A G 14: 26,578,486 (GRCm39) T3082A probably benign Het
Flnc C T 6: 29,454,306 (GRCm39) T1906I probably damaging Het
Gm14496 A G 2: 181,637,906 (GRCm39) I327V probably benign Het
Gm29106 T A 1: 118,126,885 (GRCm39) N192K possibly damaging Het
H3f3a A T 1: 180,639,490 (GRCm39) M1K probably null Het
Htt T A 5: 35,055,891 (GRCm39) W2601R possibly damaging Het
Il18r1 T A 1: 40,530,296 (GRCm39) I341K probably benign Het
Kcnj1 G A 9: 32,307,881 (GRCm39) V102I probably benign Het
Lrp3 C A 7: 34,910,922 (GRCm39) G41V probably damaging Het
Lrrc9 G T 12: 72,532,964 (GRCm39) K944N probably damaging Het
Mettl21e T A 1: 44,249,371 (GRCm39) E95V probably damaging Het
Mib1 G A 18: 10,798,446 (GRCm39) R769Q possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Mymk A G 2: 26,952,298 (GRCm39) S190P probably damaging Het
Neb G A 2: 52,215,761 (GRCm39) P182L probably damaging Het
Nfil3 A G 13: 53,122,449 (GRCm39) Y152H probably damaging Het
Nisch A G 14: 30,894,052 (GRCm39) Y1174H probably damaging Het
Nyap1 G C 5: 137,733,658 (GRCm39) Y458* probably null Het
Or4d5 A C 9: 40,011,973 (GRCm39) V271G possibly damaging Het
Or52z13 T A 7: 103,247,473 (GRCm39) C317S probably damaging Het
Or5h17 G A 16: 58,820,086 (GRCm39) V13I probably benign Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Patj G T 4: 98,312,553 (GRCm39) G297V probably damaging Het
Pcdh9 A T 14: 94,124,693 (GRCm39) S492R probably damaging Het
Pcyox1 G A 6: 86,369,323 (GRCm39) R168C probably damaging Het
Plbd1 A T 6: 136,594,326 (GRCm39) Y308N possibly damaging Het
Rax A G 18: 66,071,284 (GRCm39) V117A probably benign Het
Rdh9 C A 10: 127,612,566 (GRCm39) N71K probably benign Het
Sap130 A G 18: 31,853,714 (GRCm39) N968S probably benign Het
Sema5a A T 15: 32,609,485 (GRCm39) I464F probably benign Het
Sez6l T G 5: 112,586,447 (GRCm39) D683A probably damaging Het
Slit2 C A 5: 48,459,649 (GRCm39) P1310T probably damaging Het
Snap47 T C 11: 59,328,904 (GRCm39) M133V probably benign Het
Son TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC 16: 91,453,486 (GRCm39) probably benign Het
Srcap G A 7: 127,159,730 (GRCm39) S3202N unknown Het
Ssh2 T C 11: 77,344,441 (GRCm39) W809R probably benign Het
Stau1 G T 2: 166,792,870 (GRCm39) A365D possibly damaging Het
Tfpi2 A G 6: 3,968,281 (GRCm39) L15P probably damaging Het
Thbs1 A T 2: 117,945,508 (GRCm39) N329I possibly damaging Het
Tmem65 A T 15: 58,659,010 (GRCm39) D184E probably damaging Het
Trpm6 G T 19: 18,792,605 (GRCm39) E676D probably benign Het
Vdr T G 15: 97,782,771 (GRCm39) D17A possibly damaging Het
Vmn1r123 C T 7: 20,896,192 (GRCm39) T28I probably damaging Het
Wdr90 A G 17: 26,079,513 (GRCm39) L207P probably damaging Het
Zfp354c TGTCACACTCG TG 11: 50,706,065 (GRCm39) probably benign Het
Zfp598 A G 17: 24,898,304 (GRCm39) E402G 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
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
Predicted Primers PCR Primer
(F):5'- ACTCAACCACCAGAGAGGGATG -3'
(R):5'- ATGTCTGGGAAGTGGCCAAG -3'

Sequencing Primer
(F):5'- GGGATGCCCAGGTTTGG -3'
(R):5'- CAGATGCTGGGACAAAGCC -3'
Posted On 2019-12-20