|Institutional Source||Beutler Lab|
|Gene Name||leukotriene A4 hydrolase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8281 (G1)|
|Chromosomal Location||93453411-93484875 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 93453594 bp|
|Amino Acid Change||Aspartic acid to Tyrosine at position 29 (D29Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000016033 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000016033]|
|Predicted Effect||probably damaging
AA Change: D29Y
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D29Y
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene is an enzyme that contains both hydrolase and aminopeptidase activities. The hydrolase activity is used in the final step of the biosynthesis of leukotriene B4, a proinflammatory mediator. The aminopeptidase activity has been shown to degrade proline-glycine-proline (PGP), a neutrophil chemoattractant and biomarker for chronic obstructive pulmonary disease (COPD). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene have grossly normal phenotypes. Inflammatory reactions are reduced as are some other immunological responses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lta4h||
(F):5'- TGTCTAGCGCTAGCCTGATC -3'
(R):5'- TGCTGATGTAAAAGTGGGGC -3'
(F):5'- TGATCGCGCTGCATCATG -3'
(R):5'- CTGATGTAAAAGTGGGGCTGAGAAAG -3'