|Institutional Source||Beutler Lab|
|Gene Name||3-hydroxyanthranilate 3,4-dioxygenase|
|Synonyms||3HAO, 0610012J07Rik, 0610007K21Rik, 3-HAO, 3-HAOxase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6475 (G1)|
|Chromosomal Location||83831356-83846790 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 83831684 bp|
|Amino Acid Change||Serine to Proline at position 274 (S274P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000687 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000687]|
|Predicted Effect||possibly damaging
AA Change: S274P
PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: S274P
|Coding Region Coverage||
|Validation Efficiency||96% (54/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced LPS-induced depressive behaviors and altered kynurenine metabolism. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Haao||
(F):5'- TGCCAGTGACAGCTCTCAAC -3'
(R):5'- TCCTCTAAGGTGACAATGGGAGG -3'
(F):5'- GCTCTCAACCACTCAAGGGG -3'
(R):5'- TATAGCCCTGGCCCCAGATG -3'