Incidental Mutation 'IGL01629:Alox12'
ID 92864
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 # IGL01629
Quality Score
Status
Chromosome 11
Chromosomal Location 70132283-70146179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70133660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 555 (P555S)
Ref Sequence ENSEMBL: ENSMUSP00000000329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000329] [ENSMUST00000021180] [ENSMUST00000021181] [ENSMUST00000040428] [ENSMUST00000102569] [ENSMUST00000108575] [ENSMUST00000108577] [ENSMUST00000141880] [ENSMUST00000176268] [ENSMUST00000125752] [ENSMUST00000108578] [ENSMUST00000108579] [ENSMUST00000176116]
AlphaFold P39655
Predicted Effect probably damaging
Transcript: ENSMUST00000000329
AA Change: P555S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320
AA Change: P555S

DomainStartEndE-ValueType
LH2 2 111 9.78e-40 SMART
Pfam:Lipoxygenase 172 650 5.1e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000021180
SMART Domains Protein: ENSMUSP00000021180
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
Blast:SANT 38 69 1e-16 BLAST
SCOP:d1ba5__ 41 59 9e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021181
SMART Domains Protein: ENSMUSP00000021181
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
SANT 38 83 7.29e-1 SMART
low complexity region 106 129 N/A INTRINSIC
low complexity region 135 150 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040428
SMART Domains Protein: ENSMUSP00000048271
Gene: ENSMUSG00000093989

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 65 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102569
SMART Domains Protein: ENSMUSP00000099629
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
low complexity region 72 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108575
SMART Domains Protein: ENSMUSP00000104215
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
low complexity region 72 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108577
SMART Domains Protein: ENSMUSP00000104218
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
low complexity region 72 95 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150504
Predicted Effect probably benign
Transcript: ENSMUST00000141880
SMART Domains Protein: ENSMUSP00000135383
Gene: ENSMUSG00000093989

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176268
SMART Domains Protein: ENSMUSP00000135088
Gene: ENSMUSG00000040904

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 65 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125752
Predicted Effect probably benign
Transcript: ENSMUST00000108578
SMART Domains Protein: ENSMUSP00000104219
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
SANT 38 83 7.29e-1 SMART
low complexity region 106 129 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108579
SMART Domains Protein: ENSMUSP00000104220
Gene: ENSMUSG00000020831

DomainStartEndE-ValueType
low complexity region 72 95 N/A INTRINSIC
low complexity region 101 116 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176116
SMART Domains Protein: ENSMUSP00000135134
Gene: ENSMUSG00000040904

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Adm2 T A 15: 89,207,605 (GRCm39) probably null Het
Alpk2 A G 18: 65,433,113 (GRCm39) S1798P probably damaging Het
Amfr T A 8: 94,714,136 (GRCm39) probably null Het
Arhgef18 T A 8: 3,431,942 (GRCm39) C168S possibly damaging Het
Atxn7l3 A T 11: 102,183,320 (GRCm39) probably benign Het
Ccdc191 A G 16: 43,779,663 (GRCm39) K707E possibly damaging Het
Cdc5l G T 17: 45,724,116 (GRCm39) D391E probably benign Het
Cmtm2b T C 8: 105,056,420 (GRCm39) S110P possibly damaging Het
Cyp2j8 T C 4: 96,387,840 (GRCm39) D207G probably damaging Het
Ddhd2 A G 8: 26,225,855 (GRCm39) F501L possibly damaging Het
Dnaaf6rt T A 1: 31,262,014 (GRCm39) probably null Het
Dnah1 C T 14: 31,014,277 (GRCm39) V1823M probably damaging Het
Gjb4 T C 4: 127,245,419 (GRCm39) D174G possibly damaging Het
Gm45213 A G 7: 65,711,962 (GRCm39) D58G probably damaging Het
Hes1 C T 16: 29,884,976 (GRCm39) probably benign Het
Krt33b T A 11: 99,920,386 (GRCm39) Q89L probably benign Het
Llcfc1 C A 6: 41,661,459 (GRCm39) S3Y possibly damaging Het
Ltf A G 9: 110,864,874 (GRCm39) N569S probably damaging Het
Mknk1 T A 4: 115,732,731 (GRCm39) W320R probably damaging Het
Mrgprx3-ps T A 7: 46,959,353 (GRCm39) K213* probably null Het
Mslnl T G 17: 25,963,749 (GRCm39) V388G possibly damaging Het
Nfkb1 T C 3: 135,307,228 (GRCm39) I566V probably benign Het
Npy1r G A 8: 67,156,873 (GRCm39) V98I probably benign Het
Phf1 G T 17: 27,153,247 (GRCm39) A22S probably benign Het
Plcg1 T G 2: 160,599,930 (GRCm39) F897V possibly damaging Het
Ric1 A T 19: 29,581,381 (GRCm39) E1367D probably benign Het
Slc24a3 T C 2: 145,482,130 (GRCm39) probably benign Het
Sorl1 A G 9: 41,968,565 (GRCm39) probably null Het
Speer4a2 C T 5: 26,290,700 (GRCm39) S157N probably damaging Het
Spink5 T C 18: 44,129,677 (GRCm39) probably benign Het
Syne2 A G 12: 76,051,377 (GRCm39) I4036V possibly damaging Het
Taok1 A T 11: 77,429,030 (GRCm39) M890K possibly damaging Het
Tenm2 A T 11: 36,755,711 (GRCm39) Y96N probably damaging Het
Ttll10 T A 4: 156,131,351 (GRCm39) T233S probably benign Het
Vps39 G T 2: 120,154,079 (GRCm39) L628M probably benign Het
Zfp563 G A 17: 33,323,600 (GRCm39) R105H probably damaging Het
Other mutations in Alox12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Alox12 APN 11 70,145,375 (GRCm39) missense probably benign 0.12
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
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 2013-12-09