Incidental Mutation 'R2307:Alox12e'
ID 244643
Institutional Source Beutler Lab
Gene Symbol Alox12e
Ensembl Gene ENSMUSG00000018907
Gene Name arachidonate lipoxygenase, epidermal
Synonyms 8-LOX, Aloxe, Alox12-ps2, e-LOX1, Alox12-ps1
MMRRC Submission 040306-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2307 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 70206436-70213454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70212087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 170 (K170R)
Ref Sequence ENSEMBL: ENSMUSP00000019051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019051]
AlphaFold P55249
Predicted Effect probably damaging
Transcript: ENSMUST00000019051
AA Change: K170R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019051
Gene: ENSMUSG00000018907
AA Change: K170R

DomainStartEndE-ValueType
LH2 2 111 9.49e-38 SMART
Pfam:Lipoxygenase 163 649 1.2e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149060
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 T C 12: 84,122,375 (GRCm39) F320L possibly damaging Het
Ano2 T C 6: 125,969,849 (GRCm39) S722P probably benign Het
Cep192 A G 18: 67,946,970 (GRCm39) Y215C probably benign Het
Ces2g A G 8: 105,695,044 (GRCm39) N555S probably benign Het
Cfap58 C T 19: 47,950,925 (GRCm39) Q429* probably null Het
Clcnkb A G 4: 141,139,640 (GRCm39) S121P probably damaging Het
Cltb T A 13: 54,746,564 (GRCm39) E67D probably damaging Het
Ddhd1 A T 14: 45,846,447 (GRCm39) L581Q probably damaging Het
Dnajc3 T C 14: 119,190,633 (GRCm39) probably null Het
Fgf14 T A 14: 124,221,234 (GRCm39) N190I probably damaging Het
Galnt17 T G 5: 130,929,460 (GRCm39) Y449S probably damaging Het
Grin3a C T 4: 49,793,033 (GRCm39) probably null Het
Gxylt2 A G 6: 100,764,173 (GRCm39) N286S probably damaging Het
H2-K2 A G 17: 34,216,113 (GRCm39) V120A probably benign Het
Inpp5f T C 7: 128,296,034 (GRCm39) V168A probably damaging Het
Kif1a G T 1: 93,006,491 (GRCm39) H59N probably damaging Het
Krt24 T C 11: 99,175,456 (GRCm39) Q193R possibly damaging Het
Krtap5-4 C A 7: 141,857,351 (GRCm39) S7* probably null Het
Ltn1 A G 16: 87,229,312 (GRCm39) probably null Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mep1b A T 18: 21,221,632 (GRCm39) D194V probably damaging Het
Mettl25b A T 3: 87,834,162 (GRCm39) M171K possibly damaging Het
Orc3 C T 4: 34,586,503 (GRCm39) V382M probably damaging Het
Pclo T A 5: 14,728,665 (GRCm39) probably benign Het
Pcolce T C 5: 137,607,356 (GRCm39) H45R probably damaging Het
Prf1 T C 10: 61,138,942 (GRCm39) V300A possibly damaging Het
Prorp T C 12: 55,351,101 (GRCm39) F137L probably damaging Het
Prss53 T C 7: 127,490,037 (GRCm39) I18V probably benign Het
Rnase2b A G 14: 51,400,188 (GRCm39) T90A probably benign Het
Rpap1 G A 2: 119,614,247 (GRCm39) P50L probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec16b G A 1: 157,363,062 (GRCm39) V298I probably damaging Het
Smarcd3 C T 5: 24,800,746 (GRCm39) R156Q probably damaging Het
St6galnac2 C T 11: 116,572,731 (GRCm39) A242T probably damaging Het
Syce1l T C 8: 114,369,937 (GRCm39) probably null Het
Tcam1 T C 11: 106,174,940 (GRCm39) C132R probably damaging Het
Trpa1 T C 1: 14,982,605 (GRCm39) I84V probably benign Het
Ttn G A 2: 76,717,342 (GRCm39) R455* probably null Het
Ubl5 T A 9: 20,557,876 (GRCm39) probably benign Het
Ubr2 T A 17: 47,277,141 (GRCm39) K779* probably null Het
Ugt1a10 A G 1: 87,983,669 (GRCm39) I156V probably benign Het
Unc13b A G 4: 43,239,854 (GRCm39) T3513A probably damaging Het
Vmn1r20 C T 6: 57,409,121 (GRCm39) T149I probably benign Het
Zfp804a T A 2: 82,087,201 (GRCm39) D343E probably benign Het
Other mutations in Alox12e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Alox12e APN 11 70,211,880 (GRCm39) missense probably benign
IGL01781:Alox12e APN 11 70,212,282 (GRCm39) missense probably damaging 1.00
R0284:Alox12e UTSW 11 70,211,725 (GRCm39) splice site probably benign
R0417:Alox12e UTSW 11 70,212,691 (GRCm39) missense probably benign 0.12
R0557:Alox12e UTSW 11 70,212,274 (GRCm39) missense possibly damaging 0.80
R0593:Alox12e UTSW 11 70,211,723 (GRCm39) splice site probably benign
R1479:Alox12e UTSW 11 70,211,608 (GRCm39) missense probably benign 0.04
R1967:Alox12e UTSW 11 70,208,682 (GRCm39) missense probably benign 0.18
R1996:Alox12e UTSW 11 70,207,034 (GRCm39) missense probably benign 0.00
R2062:Alox12e UTSW 11 70,206,828 (GRCm39) missense probably damaging 1.00
R2063:Alox12e UTSW 11 70,206,828 (GRCm39) missense probably damaging 1.00
R2067:Alox12e UTSW 11 70,206,828 (GRCm39) missense probably damaging 1.00
R2068:Alox12e UTSW 11 70,206,828 (GRCm39) missense probably damaging 1.00
R2147:Alox12e UTSW 11 70,210,771 (GRCm39) missense probably damaging 1.00
R3034:Alox12e UTSW 11 70,207,079 (GRCm39) missense probably benign 0.01
R3739:Alox12e UTSW 11 70,210,668 (GRCm39) missense probably damaging 1.00
R4463:Alox12e UTSW 11 70,209,082 (GRCm39) missense probably damaging 1.00
R4572:Alox12e UTSW 11 70,212,007 (GRCm39) intron probably benign
R5004:Alox12e UTSW 11 70,212,330 (GRCm39) missense probably benign 0.00
R5113:Alox12e UTSW 11 70,206,821 (GRCm39) missense possibly damaging 0.70
R5155:Alox12e UTSW 11 70,207,081 (GRCm39) missense possibly damaging 0.61
R5464:Alox12e UTSW 11 70,208,505 (GRCm39) missense probably damaging 0.99
R5471:Alox12e UTSW 11 70,210,850 (GRCm39) missense probably benign 0.17
R5501:Alox12e UTSW 11 70,207,055 (GRCm39) missense probably benign 0.01
R5915:Alox12e UTSW 11 70,209,050 (GRCm39) missense possibly damaging 0.81
R6033:Alox12e UTSW 11 70,206,839 (GRCm39) missense probably benign 0.03
R6033:Alox12e UTSW 11 70,206,839 (GRCm39) missense probably benign 0.03
R6102:Alox12e UTSW 11 70,210,849 (GRCm39) missense possibly damaging 0.65
R6380:Alox12e UTSW 11 70,211,927 (GRCm39) missense probably benign 0.00
R6452:Alox12e UTSW 11 70,210,831 (GRCm39) missense probably damaging 0.96
R7175:Alox12e UTSW 11 70,210,534 (GRCm39) missense probably damaging 1.00
R7220:Alox12e UTSW 11 70,206,731 (GRCm39) missense probably benign 0.02
R7353:Alox12e UTSW 11 70,212,261 (GRCm39) missense probably damaging 1.00
R7542:Alox12e UTSW 11 70,212,582 (GRCm39) missense possibly damaging 0.69
R7916:Alox12e UTSW 11 70,212,111 (GRCm39) missense probably benign
R8314:Alox12e UTSW 11 70,206,998 (GRCm39) missense possibly damaging 0.83
R8331:Alox12e UTSW 11 70,211,923 (GRCm39) missense probably benign 0.01
R9027:Alox12e UTSW 11 70,212,600 (GRCm39) missense possibly damaging 0.68
R9380:Alox12e UTSW 11 70,206,994 (GRCm39) critical splice donor site probably null
R9641:Alox12e UTSW 11 70,212,261 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGCAGAGCAGTCTTTGTATG -3'
(R):5'- TCGGTGAGTTCAAGAAAACTGTC -3'

Sequencing Primer
(F):5'- GGAATACTTTCTGGTAATCTTCCAGC -3'
(R):5'- AACTGTCGATCGCCCTCTAGAG -3'
Posted On 2014-10-30