Incidental Mutation 'IGL01327:Alox12'
ID74305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alox12
Ensembl Gene ENSMUSG00000000320
Gene Namearachidonate 12-lipoxygenase
SynonymsP-12LO, 9930022G08Rik, Alox12p
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #IGL01327
Quality Score
Status
Chromosome11
Chromosomal Location70241457-70255353 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70254549 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 66 (H66L)
Ref Sequence ENSEMBL: ENSMUSP00000000329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000329] [ENSMUST00000108574]
Predicted Effect probably benign
Transcript: ENSMUST00000000329
AA Change: H66L

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320
AA Change: H66L

DomainStartEndE-ValueType
LH2 2 111 9.78e-40 SMART
Pfam:Lipoxygenase 172 650 5.1e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108574
AA Change: H66L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104214
Gene: ENSMUSG00000000320
AA Change: H66L

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 147,945,064 V497E probably damaging Het
4930563D23Rik T C 16: 92,320,773 Y209C probably benign Het
Adcy7 T G 8: 88,318,790 probably benign Het
Aldh1a2 T A 9: 71,285,966 F486I possibly damaging Het
Apoh T G 11: 108,397,361 Y102D probably damaging Het
Arl9 T C 5: 77,006,554 V43A possibly damaging Het
Atf6 A G 1: 170,788,606 probably null Het
Atp4a T A 7: 30,713,250 I127N possibly damaging Het
AY358078 T A 14: 51,805,709 probably benign Het
Baat T G 4: 49,490,338 K249Q probably damaging Het
Brat1 C T 5: 140,718,208 Q739* probably null Het
C8g A G 2: 25,499,077 F165L probably damaging Het
Cel T G 2: 28,557,955 D353A possibly damaging Het
Col6a1 G T 10: 76,710,979 T803K unknown Het
Cpxm1 A G 2: 130,396,357 L95P probably benign Het
Ctsr A G 13: 61,162,675 probably benign Het
Cyth1 A G 11: 118,193,613 probably null Het
Dync1h1 A T 12: 110,616,692 probably benign Het
Ezh1 C T 11: 101,203,436 C407Y probably damaging Het
Gm3696 A T 14: 7,090,701 W38R probably benign Het
Gm9611 T C 14: 42,294,665 T39A possibly damaging Het
Gnpat T A 8: 124,878,633 L287H probably damaging Het
Golm1 G T 13: 59,645,144 N182K possibly damaging Het
Hdac6 T C X: 7,931,774 M899V probably benign Het
Hsf3 T A X: 96,314,972 M272L probably benign Het
Kif19a C T 11: 114,781,799 probably benign Het
Lcn2 T G 2: 32,386,018 Y100S possibly damaging Het
Lrrc8d T A 5: 105,812,265 S180R probably damaging Het
Ly6h A G 15: 75,565,099 probably benign Het
Macf1 T C 4: 123,509,912 N705D probably benign Het
Mst1r C T 9: 107,907,844 P234S probably benign Het
Msto1 T A 3: 88,910,632 probably null Het
Myo5a T A 9: 75,187,538 probably benign Het
Nipa1 T C 7: 55,979,661 I235V probably benign Het
Nlgn3 T C X: 101,318,622 V399A probably benign Het
Olfr1367 A G 13: 21,347,207 N93S probably benign Het
Olfr412 T A 11: 74,364,912 M81K possibly damaging Het
Pih1d1 T C 7: 45,159,975 S289P probably benign Het
Ppl T C 16: 5,087,644 N1596D probably benign Het
Psmb6 T A 11: 70,526,586 S114R possibly damaging Het
Pum1 C A 4: 130,730,543 Q289K probably damaging Het
Shkbp1 T C 7: 27,355,251 I75V probably benign Het
Slc24a3 T A 2: 145,602,558 I284N probably benign Het
Slc44a3 C T 3: 121,527,193 G53D probably damaging Het
Slc9a4 A C 1: 40,629,405 D736A probably benign Het
Stra6 A G 9: 58,152,571 D605G probably benign Het
Tas2r126 T A 6: 42,434,750 H72Q probably benign Het
Tbrg1 C T 9: 37,653,112 R166Q probably benign Het
Thumpd1 C T 7: 119,720,702 G14R probably benign Het
Ticrr C T 7: 79,694,461 T1358I probably benign Het
Tmtc2 A T 10: 105,348,479 N518K probably benign Het
Trpm4 C A 7: 45,315,073 W533C probably damaging Het
Tsen54 T C 11: 115,821,712 Y119H possibly damaging Het
Tulp3 G A 6: 128,327,634 T219M probably damaging Het
Usp19 T C 9: 108,498,961 L1000S possibly damaging Het
Vps16 A T 2: 130,437,696 Y43F probably benign Het
Vsig1 T A X: 140,937,680 V283E possibly damaging Het
Other mutations in Alox12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Alox12 APN 11 70242834 missense probably damaging 1.00
IGL02657:Alox12 APN 11 70247278 missense probably benign
IGL02966:Alox12 APN 11 70250085 missense probably damaging 1.00
R0243:Alox12 UTSW 11 70242716 missense possibly damaging 0.82
R0357:Alox12 UTSW 11 70242536 missense probably damaging 1.00
R0394:Alox12 UTSW 11 70245935 missense probably damaging 1.00
R0422:Alox12 UTSW 11 70254558 missense probably damaging 1.00
R0564:Alox12 UTSW 11 70252836 missense probably damaging 0.99
R0751:Alox12 UTSW 11 70246950 missense probably benign 0.00
R1539:Alox12 UTSW 11 70253243 splice site probably null
R1562:Alox12 UTSW 11 70250165 missense probably damaging 0.97
R2165:Alox12 UTSW 11 70242572 splice site probably null
R2295:Alox12 UTSW 11 70242465 missense probably benign 0.45
R4073:Alox12 UTSW 11 70247310 missense probably damaging 1.00
R4558:Alox12 UTSW 11 70253063 missense probably benign 0.03
R5081:Alox12 UTSW 11 70255314 splice site probably null
R5198:Alox12 UTSW 11 70254417 missense probably damaging 1.00
R5507:Alox12 UTSW 11 70254412 missense possibly damaging 0.87
R5793:Alox12 UTSW 11 70243053 missense probably benign 0.00
R5832:Alox12 UTSW 11 70253280 missense probably damaging 0.98
R5975:Alox12 UTSW 11 70242783 missense possibly damaging 0.89
R5984:Alox12 UTSW 11 70247055 missense possibly damaging 0.83
R5988:Alox12 UTSW 11 70251587 missense probably benign 0.05
R6030:Alox12 UTSW 11 70254591 missense possibly damaging 0.72
R6030:Alox12 UTSW 11 70254591 missense possibly damaging 0.72
R6248:Alox12 UTSW 11 70253110 missense probably damaging 1.00
R6505:Alox12 UTSW 11 70250204 missense probably damaging 1.00
R7320:Alox12 UTSW 11 70254472 missense probably benign 0.02
R7595:Alox12 UTSW 11 70242404 missense probably damaging 1.00
R7972:Alox12 UTSW 11 70242687 missense probably benign 0.15
X0025:Alox12 UTSW 11 70255224 missense probably damaging 0.96
Z1177:Alox12 UTSW 11 70251479 missense possibly damaging 0.66
Posted On2013-10-07