Incidental Mutation 'IGL02657:Alox12'
ID 302393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alox12
Ensembl Gene ENSMUSG00000000320
Gene Name arachidonate 12-lipoxygenase
Synonyms 9930022G08Rik, P-12LO, Alox12p
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # IGL02657
Quality Score
Status
Chromosome 11
Chromosomal Location 70132283-70146179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70138104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 410 (D410E)
Ref Sequence ENSEMBL: ENSMUSP00000000329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000329] [ENSMUST00000108574]
AlphaFold P39655
Predicted Effect probably benign
Transcript: ENSMUST00000000329
AA Change: D410E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320
AA Change: D410E

DomainStartEndE-ValueType
LH2 2 111 9.78e-40 SMART
Pfam:Lipoxygenase 172 650 5.1e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108574
SMART Domains Protein: ENSMUSP00000104214
Gene: ENSMUSG00000000320

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,725,648 (GRCm39) V120M possibly damaging Het
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L probably 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
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
R0422:Alox12 UTSW 11 70,145,384 (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
Posted On 2015-04-16