Incidental Mutation 'R0422:Alox12'
ID 37136
Institutional Source Beutler Lab
Gene Symbol Alox12
Ensembl Gene ENSMUSG00000000320
Gene Name arachidonate 12-lipoxygenase
Synonyms 9930022G08Rik, P-12LO, Alox12p
MMRRC Submission 038624-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R0422 (G1)
Quality Score 158
Status Not validated
Chromosome 11
Chromosomal Location 70132283-70146179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70145384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 63 (V63E)
Ref Sequence ENSEMBL: ENSMUSP00000104214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000329] [ENSMUST00000108574]
AlphaFold P39655
Predicted Effect probably damaging
Transcript: ENSMUST00000000329
AA Change: V63E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320
AA Change: V63E

DomainStartEndE-ValueType
LH2 2 111 9.78e-40 SMART
Pfam:Lipoxygenase 172 650 5.1e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108574
AA Change: V63E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104214
Gene: ENSMUSG00000000320
AA Change: V63E

DomainStartEndE-ValueType
LH2 2 111 9.78e-40 SMART
Pfam:Lipoxygenase 121 211 8.1e-9 PFAM
Pfam:Lipoxygenase 210 390 3e-61 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased basal transepidermal water loss and hypersensitivity to adenosine 5'-diphosphate-induced platelet aggregation and mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T A 7: 119,372,963 (GRCm39) Y155* probably null Het
Adamts16 A G 13: 70,887,074 (GRCm39) C937R probably damaging Het
Akna T C 4: 63,310,391 (GRCm39) D451G probably damaging Het
Ap3b1 T C 13: 94,598,968 (GRCm39) I514T probably damaging Het
Arhgap23 T C 11: 97,354,478 (GRCm39) M286T probably damaging Het
Cdkl2 T C 5: 92,168,171 (GRCm39) D341G probably benign Het
Clip2 T C 5: 134,526,967 (GRCm39) D813G probably benign Het
Cntnap3 A G 13: 64,905,099 (GRCm39) V894A probably damaging Het
Coro2b T A 9: 62,335,259 (GRCm39) Y304F probably benign Het
Dclre1a T A 19: 56,532,567 (GRCm39) K676* probably null Het
Dmxl2 A G 9: 54,307,224 (GRCm39) probably null Het
Dpep3 A G 8: 106,702,750 (GRCm39) probably null Het
Efna5 C T 17: 62,914,414 (GRCm39) A177T probably benign Het
Fabp1 G A 6: 71,180,077 (GRCm39) V83I possibly damaging Het
H2-DMa G T 17: 34,356,921 (GRCm39) G140C probably damaging Het
Hectd4 T A 5: 121,481,145 (GRCm39) probably null Het
Hyou1 T A 9: 44,300,539 (GRCm39) N869K probably damaging Het
Ing1 G A 8: 11,611,933 (GRCm39) V124I probably damaging Het
Kalrn T A 16: 34,134,643 (GRCm39) I380F probably damaging Het
Kcnh1 A G 1: 192,019,888 (GRCm39) I378V probably benign Het
Kmt2c A G 5: 25,520,662 (GRCm39) V1816A probably benign Het
Matn2 G A 15: 34,435,917 (GRCm39) probably null Het
Naip2 C T 13: 100,297,621 (GRCm39) S805N probably benign Het
Napsa A C 7: 44,234,530 (GRCm39) Q254P probably damaging Het
Nat10 G T 2: 103,557,074 (GRCm39) S860* probably null Het
Nipbl T C 15: 8,381,112 (GRCm39) D560G probably benign Het
Nr3c2 A G 8: 77,912,596 (GRCm39) M736V probably benign Het
Or4k44 A T 2: 111,368,328 (GRCm39) F102Y probably damaging Het
Or7e174 A T 9: 20,012,744 (GRCm39) R230* probably null Het
Or8u8 A T 2: 86,011,566 (GRCm39) D296E probably benign Het
Palm3 A G 8: 84,755,492 (GRCm39) S335G possibly damaging Het
Panx1 G T 9: 14,919,112 (GRCm39) S249* probably null Het
Parvb A G 15: 84,179,812 (GRCm39) T231A probably benign Het
Pcdhb11 G T 18: 37,554,923 (GRCm39) L84F probably damaging Het
Pi4k2b T C 5: 52,925,096 (GRCm39) *447Q probably null Het
Ppp1r1a A G 15: 103,440,783 (GRCm39) S125P probably benign Het
Prss1 T A 6: 41,440,246 (GRCm39) D194E probably damaging Het
Rnf216 A T 5: 143,001,409 (GRCm39) C772* probably null Het
Rnf216 A T 5: 143,076,125 (GRCm39) F253Y probably benign Het
Rsf1 A T 7: 97,330,024 (GRCm39) E1183D probably benign Het
Rusc1 T C 3: 88,994,132 (GRCm39) T958A probably benign Het
Rxfp1 A G 3: 79,558,038 (GRCm39) M480T probably benign Het
Slc22a16 T A 10: 40,467,886 (GRCm39) V473E probably damaging Het
Slc26a3 A G 12: 31,515,848 (GRCm39) T583A possibly damaging Het
Slc7a15 T C 12: 8,584,400 (GRCm39) T117A probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Slitrk6 T A 14: 110,989,725 (GRCm39) probably benign Het
Spata31g1 T C 4: 42,972,199 (GRCm39) S511P possibly damaging Het
Spata7 A G 12: 98,624,524 (GRCm39) Y110C probably damaging Het
Supt16 T A 14: 52,421,453 (GRCm39) I31F probably benign Het
Taar7a T C 10: 23,869,172 (GRCm39) T70A probably benign Het
Top2a A G 11: 98,900,679 (GRCm39) F594L probably damaging Het
Unc13d C T 11: 115,960,846 (GRCm39) probably null Het
Unc80 T G 1: 66,522,497 (GRCm39) V233G probably damaging Het
Wdr91 A T 6: 34,857,781 (GRCm39) D735E probably damaging Het
Zzef1 A G 11: 72,756,917 (GRCm39) T1141A possibly damaging Het
Other mutations in Alox12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Alox12 APN 11 70,145,375 (GRCm39) missense probably benign 0.12
IGL01629:Alox12 APN 11 70,133,660 (GRCm39) missense probably damaging 1.00
IGL02657:Alox12 APN 11 70,138,104 (GRCm39) missense probably benign
IGL02966:Alox12 APN 11 70,140,911 (GRCm39) missense probably damaging 1.00
R0243:Alox12 UTSW 11 70,133,542 (GRCm39) missense possibly damaging 0.82
R0357:Alox12 UTSW 11 70,133,362 (GRCm39) missense probably damaging 1.00
R0394:Alox12 UTSW 11 70,136,761 (GRCm39) missense probably damaging 1.00
R0564:Alox12 UTSW 11 70,143,662 (GRCm39) missense probably damaging 0.99
R0751:Alox12 UTSW 11 70,137,776 (GRCm39) missense probably benign 0.00
R1539:Alox12 UTSW 11 70,144,069 (GRCm39) splice site probably null
R1562:Alox12 UTSW 11 70,140,991 (GRCm39) missense probably damaging 0.97
R2165:Alox12 UTSW 11 70,133,398 (GRCm39) splice site probably null
R2295:Alox12 UTSW 11 70,133,291 (GRCm39) missense probably benign 0.45
R4073:Alox12 UTSW 11 70,138,136 (GRCm39) missense probably damaging 1.00
R4558:Alox12 UTSW 11 70,143,889 (GRCm39) missense probably benign 0.03
R5081:Alox12 UTSW 11 70,146,140 (GRCm39) splice site probably null
R5198:Alox12 UTSW 11 70,145,243 (GRCm39) missense probably damaging 1.00
R5507:Alox12 UTSW 11 70,145,238 (GRCm39) missense possibly damaging 0.87
R5793:Alox12 UTSW 11 70,133,879 (GRCm39) missense probably benign 0.00
R5832:Alox12 UTSW 11 70,144,106 (GRCm39) missense probably damaging 0.98
R5975:Alox12 UTSW 11 70,133,609 (GRCm39) missense possibly damaging 0.89
R5984:Alox12 UTSW 11 70,137,881 (GRCm39) missense possibly damaging 0.83
R5988:Alox12 UTSW 11 70,142,413 (GRCm39) missense probably benign 0.05
R6030:Alox12 UTSW 11 70,145,417 (GRCm39) missense possibly damaging 0.72
R6030:Alox12 UTSW 11 70,145,417 (GRCm39) missense possibly damaging 0.72
R6248:Alox12 UTSW 11 70,143,936 (GRCm39) missense probably damaging 1.00
R6505:Alox12 UTSW 11 70,141,030 (GRCm39) missense probably damaging 1.00
R7320:Alox12 UTSW 11 70,145,298 (GRCm39) missense probably benign 0.02
R7595:Alox12 UTSW 11 70,133,230 (GRCm39) missense probably damaging 1.00
R7972:Alox12 UTSW 11 70,133,513 (GRCm39) missense probably benign 0.15
R8787:Alox12 UTSW 11 70,144,146 (GRCm39) missense probably benign 0.01
R8845:Alox12 UTSW 11 70,137,877 (GRCm39) missense probably damaging 1.00
R9051:Alox12 UTSW 11 70,138,153 (GRCm39) missense possibly damaging 0.93
R9055:Alox12 UTSW 11 70,143,903 (GRCm39) missense probably damaging 0.99
R9730:Alox12 UTSW 11 70,140,920 (GRCm39) missense probably benign 0.21
R9784:Alox12 UTSW 11 70,143,665 (GRCm39) missense possibly damaging 0.91
X0025:Alox12 UTSW 11 70,146,050 (GRCm39) missense probably damaging 0.96
Z1177:Alox12 UTSW 11 70,142,305 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- AGAAACTCACTGTTCCGTTTCTGCC -3'
(R):5'- TCTTAGACCCGCCAGACAGGTTAG -3'

Sequencing Primer
(F):5'- ACTCCCCCAGGGTAGGATG -3'
(R):5'- GCCAGACAGGTTAGGGGTG -3'
Posted On 2013-05-09