Incidental Mutation 'IGL01728:Haao'
ID105363
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? Non essential (E-score: 0.000) question?
Stock #IGL01728
Quality Score
Status
Chromosome17
Chromosomal Location83831356-83846790 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83835229 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 149 (F149S)
Ref Sequence ENSEMBL: ENSMUSP00000000687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000687]
Predicted Effect probably damaging
Transcript: ENSMUST00000000687
AA Change: F149S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000687
Gene: ENSMUSG00000000673
AA Change: F149S

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,182,509 S54P probably benign Het
Adamtsl1 T C 4: 86,110,837 I71T probably damaging Het
Agbl3 T C 6: 34,782,157 M1T probably null Het
Ankib1 A G 5: 3,701,992 probably benign Het
Brinp3 T G 1: 146,831,551 probably null Het
Chuk T C 19: 44,098,646 N138S possibly damaging Het
Dock7 G A 4: 98,962,331 T1588M probably damaging Het
Ehbp1 G A 11: 22,101,115 T479I probably damaging Het
Gpn2 T C 4: 133,584,502 I15T possibly damaging Het
Hist1h3b G A 13: 23,752,729 R117H probably benign Het
Iqsec3 T A 6: 121,412,664 probably benign Het
Lrrc39 G T 3: 116,579,500 probably benign Het
Ltbp2 C A 12: 84,791,009 S1199I probably damaging Het
Mageb3 G T 2: 121,954,460 P254T probably damaging Het
Mapkbp1 C T 2: 120,023,821 P1300S probably damaging Het
Mtfmt T A 9: 65,435,818 L2H probably damaging Het
Myo18a G T 11: 77,777,856 G181W probably damaging Het
Mzf1 T C 7: 13,051,727 probably benign Het
Nfatc2 A T 2: 168,536,242 L280Q probably damaging Het
Nudt15 A G 14: 73,523,296 probably null Het
Olfr633 T C 7: 103,946,752 F62S probably damaging Het
Olfr920 A G 9: 38,756,095 M136V possibly damaging Het
Parp14 A G 16: 35,857,435 V721A probably damaging Het
Pbp2 G T 6: 135,310,075 N91K probably damaging Het
Pde7b C A 10: 20,434,464 probably null Het
Pramel7 C A 2: 87,491,330 E120D possibly damaging Het
Rbbp5 C T 1: 132,498,080 T516M probably benign Het
Slc16a12 A G 19: 34,690,671 V28A possibly damaging Het
Slc6a9 T C 4: 117,864,605 F276S probably damaging Het
Spata9 A T 13: 75,993,074 I147L probably benign Het
Tenm4 A T 7: 96,896,064 Y2429F probably damaging Het
Tmtc1 A G 6: 148,411,066 S212P probably benign Het
Unc5cl A T 17: 48,459,963 I122F probably damaging Het
Unc79 T A 12: 103,165,684 F2350I probably damaging Het
Other mutations in Haao
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Haao APN 17 83834930 splice site probably benign
IGL02603:Haao APN 17 83835541 missense probably benign 0.45
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
R7390:Haao UTSW 17 83846652 missense probably damaging 0.99
R8073:Haao UTSW 17 83835220 missense possibly damaging 0.86
Posted On2014-01-21