Incidental Mutation 'R1870:Alox12b'
ID 210673
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 039892-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1870 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 69047898-69060617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69049199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 83 (Y83H)
Ref Sequence ENSEMBL: ENSMUSP00000035250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036424]
AlphaFold O70582
Predicted Effect possibly damaging
Transcript: ENSMUST00000036424
AA Change: Y83H

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035250
Gene: ENSMUSG00000032807
AA Change: Y83H

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
Meta Mutation Damage Score 0.4283 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.1%
Validation Efficiency 97% (96/99)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Abca5 C A 11: 110,220,043 (GRCm39) V8L probably benign Het
Abcc8 C T 7: 45,773,339 (GRCm39) E797K probably benign Het
Acd C A 8: 106,425,039 (GRCm39) probably null Het
Adam34l A T 8: 44,078,132 (GRCm39) Y697* probably null Het
Adamts12 T C 15: 11,311,240 (GRCm39) S1166P probably benign Het
Antxr2 A T 5: 98,178,297 (GRCm39) S38T probably damaging Het
Aox1 A G 1: 58,115,262 (GRCm39) E749G probably damaging Het
Arpc1a T A 5: 145,043,901 (GRCm39) C344S possibly damaging Het
Bcan T C 3: 87,902,908 (GRCm39) Y290C probably damaging Het
Bod1l G A 5: 41,991,018 (GRCm39) S179F possibly damaging Het
Catsper3 A C 13: 55,953,561 (GRCm39) D224A probably damaging Het
Ccar2 A G 14: 70,377,946 (GRCm39) S680P probably damaging Het
Ccdc18 A G 5: 108,368,703 (GRCm39) H1275R possibly damaging Het
Ccdc40 T C 11: 119,150,730 (GRCm39) M1011T possibly damaging Het
Cfap46 T A 7: 139,263,386 (GRCm39) D17V probably damaging Het
Csn1s2a T C 5: 87,926,058 (GRCm39) F45L probably benign Het
Cwf19l2 T G 9: 3,458,802 (GRCm39) N750K possibly damaging Het
Cyb5r4 A G 9: 86,922,462 (GRCm39) D157G probably benign Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Dennd4a C T 9: 64,804,516 (GRCm39) A1285V probably benign Het
Dlat A G 9: 50,548,874 (GRCm39) S561P probably damaging Het
Dlgap2 T A 8: 14,823,347 (GRCm39) V522E probably damaging Het
Dnah5 T A 15: 28,331,859 (GRCm39) Y2148* probably null Het
Dnase2a T C 8: 85,635,392 (GRCm39) probably benign Het
Elapor2 A G 5: 9,468,007 (GRCm39) E225G probably damaging Het
Fam83f T C 15: 80,574,113 (GRCm39) probably benign Het
Firrm G A 1: 163,792,363 (GRCm39) L545F probably damaging Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Galk2 T C 2: 125,817,183 (GRCm39) L324P probably benign Het
Gdpd4 G A 7: 97,622,162 (GRCm39) V214I probably benign Het
Gfra3 C T 18: 34,844,373 (GRCm39) A56T probably damaging Het
Glyctk A G 9: 106,032,547 (GRCm39) S489P probably damaging Het
Izumo4 A T 10: 80,539,569 (GRCm39) I135F probably damaging Het
Krt87 T A 15: 101,385,071 (GRCm39) T342S probably benign Het
L1td1 T A 4: 98,625,714 (GRCm39) D636E possibly damaging Het
Letm2 A G 8: 26,086,460 (GRCm39) probably benign Het
Lpin1 A G 12: 16,591,744 (GRCm39) F828L probably damaging Het
Lrrc37 T C 11: 103,511,431 (GRCm39) D179G unknown Het
Mdn1 T A 4: 32,763,339 (GRCm39) D5146E probably damaging Het
Megf10 T A 18: 57,324,257 (GRCm39) Y99* probably null Het
Men1 A G 19: 6,387,660 (GRCm39) D285G probably damaging Het
Mertk T G 2: 128,643,116 (GRCm39) D838E probably benign Het
Mta1 T C 12: 113,091,694 (GRCm39) S266P possibly damaging Het
Mta3 G A 17: 84,089,397 (GRCm39) V320M probably damaging Het
Nlrp9c G A 7: 26,084,245 (GRCm39) Q445* probably null Het
Or2m12 A T 16: 19,105,357 (GRCm39) N45K probably damaging Het
Or51e1 T C 7: 102,358,961 (GRCm39) I165T possibly damaging Het
Or8b38 A T 9: 37,972,646 (GRCm39) K10I probably benign Het
Or8d6 T G 9: 39,854,117 (GRCm39) I187R probably damaging Het
Pbrm1 T A 14: 30,828,132 (GRCm39) L1320I probably damaging Het
Pdzd2 G T 15: 12,457,972 (GRCm39) T297K probably damaging Het
Pfas T C 11: 68,882,795 (GRCm39) D782G probably damaging Het
Pik3c3 T C 18: 30,426,185 (GRCm39) probably null Het
Pira2 T C 7: 3,847,452 (GRCm39) N79S probably damaging Het
Pkdrej G T 15: 85,700,632 (GRCm39) T1768K probably damaging Het
Plcb3 T C 19: 6,940,353 (GRCm39) I439V probably benign Het
Pold4 T A 19: 4,282,593 (GRCm39) Y58* probably null Het
Ppef2 T G 5: 92,398,371 (GRCm39) Q49P probably damaging Het
Ralgapa1 T A 12: 55,723,817 (GRCm39) I2026F possibly damaging Het
Rest T A 5: 77,416,209 (GRCm39) V141E possibly damaging Het
Rnf139 T C 15: 58,771,202 (GRCm39) V409A probably benign Het
Rnpc3 T C 3: 113,404,704 (GRCm39) probably benign Het
S100a10 A T 3: 93,468,377 (GRCm39) E36V probably benign Het
S1pr3 A C 13: 51,573,952 (GRCm39) K378Q probably benign Het
Scaper T A 9: 55,593,222 (GRCm39) I472F probably damaging Het
Sgcg G A 14: 61,477,896 (GRCm39) probably benign Het
Shank1 A T 7: 43,991,539 (GRCm39) R69* probably null Het
Shoc1 G A 4: 59,054,142 (GRCm39) probably benign Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slc25a54 T A 3: 108,987,932 (GRCm39) Y24* probably null Het
Slc29a4 T C 5: 142,707,243 (GRCm39) *529R probably null Het
Slc41a2 G A 10: 83,137,029 (GRCm39) Q293* probably null Het
Slc4a7 T C 14: 14,737,509 (GRCm38) probably null Het
Slfn9 G T 11: 82,872,402 (GRCm39) T778N probably benign Het
Ssr2 T C 3: 88,483,949 (GRCm39) probably benign Het
Tecrl T A 5: 83,502,706 (GRCm39) T33S probably benign Het
Tnfrsf9 T A 4: 151,018,804 (GRCm39) C158* probably null Het
Tradd T C 8: 105,985,792 (GRCm39) E253G possibly damaging Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r27 T C 6: 124,201,170 (GRCm39) I262M probably benign Het
Vps13a A G 19: 16,737,316 (GRCm39) V91A probably damaging Het
Vwf C T 6: 125,619,902 (GRCm39) R1527C probably damaging Het
Wwc1 C T 11: 35,752,772 (GRCm39) G763D probably damaging Het
Zfp526 T G 7: 24,924,594 (GRCm39) D284E possibly damaging Het
Zfp646 T C 7: 127,483,021 (GRCm39) F1733L possibly damaging Het
Zfp90 A G 8: 107,145,755 (GRCm39) H29R probably benign Het
Zkscan4 A G 13: 21,668,104 (GRCm39) E185G 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
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
Predicted Primers PCR Primer
(F):5'- GGGTTCACATCTGTGCCTTC -3'
(R):5'- ATCTGGAGTAGCTGGGCAAG -3'

Sequencing Primer
(F):5'- TCCAGCAGGGGAGTGTTACTAAC -3'
(R):5'- GAGTAAGGAAACTCCCTGCATG -3'
Posted On 2014-06-30