Incidental Mutation 'IGL02603:Haao'
ID300158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Haao
Ensembl Gene ENSMUSG00000000673
Gene Name3-hydroxyanthranilate 3,4-dioxygenase
Synonyms3HAO, 0610012J07Rik, 0610007K21Rik, 3-HAO, 3-HAOxase
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.541) question?
Stock #IGL02603
Quality Score
Status
Chromosome17
Chromosomal Location83831356-83846790 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 83835541 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 125 (D125V)
Ref Sequence ENSEMBL: ENSMUSP00000000687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000687]
Predicted Effect probably benign
Transcript: ENSMUST00000000687
AA Change: D125V

PolyPhen 2 Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000000687
Gene: ENSMUSG00000000673
AA Change: D125V

DomainStartEndE-ValueType
Pfam:3-HAO 1 149 1e-78 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,488,952 S3457P possibly damaging Het
Aipl1 A G 11: 72,036,700 I63T possibly damaging Het
Atp7b C T 8: 21,994,776 V1307M possibly damaging Het
Cdc20b T C 13: 113,078,755 S286P possibly damaging Het
Eif2ak4 G A 2: 118,450,326 R946H probably damaging Het
Fam98c A G 7: 29,154,448 S232P probably damaging Het
Glt1d1 G T 5: 127,632,345 R21L probably damaging Het
Gm5286 A T 3: 94,198,437 T21S possibly damaging Het
Gm5422 A G 10: 31,249,440 noncoding transcript Het
Hipk1 A G 3: 103,750,272 V832A probably damaging Het
Lrrtm4 C A 6: 80,022,984 Q460K possibly damaging Het
Lyar A G 5: 38,234,061 N368S probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Lztr1 C A 16: 17,509,686 N84K possibly damaging Het
Ndufa8 C A 2: 36,044,458 C36F probably damaging Het
Olfr136 T A 17: 38,335,513 S119T probably damaging Het
Olfr739 T A 14: 50,425,200 V227E probably damaging Het
Psg19 A G 7: 18,792,768 S146P probably benign Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Other mutations in Haao
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Haao APN 17 83834930 splice site probably benign
IGL01728:Haao APN 17 83835229 missense probably damaging 1.00
IGL03328:Haao APN 17 83846649 missense probably damaging 1.00
R0635:Haao UTSW 17 83838574 missense probably damaging 1.00
R1295:Haao UTSW 17 83838838 missense probably benign 0.38
R1296:Haao UTSW 17 83838838 missense probably benign 0.38
R1472:Haao UTSW 17 83838838 missense probably benign 0.38
R1563:Haao UTSW 17 83834889 missense probably benign 0.01
R2424:Haao UTSW 17 83835562 missense probably damaging 0.99
R3917:Haao UTSW 17 83838799 critical splice donor site probably null
R4657:Haao UTSW 17 83832345 missense possibly damaging 0.67
R4857:Haao UTSW 17 83838580 critical splice acceptor site probably null
R6475:Haao UTSW 17 83831684 missense possibly damaging 0.87
R6989:Haao UTSW 17 83831674 missense probably damaging 1.00
Posted On2015-04-16