Incidental Mutation 'R1472:Haao'
ID 165050
Institutional Source Beutler Lab
Gene Symbol Haao
Ensembl Gene ENSMUSG00000000673
Gene Name 3-hydroxyanthranilate 3,4-dioxygenase
Synonyms 3HAO, 0610012J07Rik, 3-HAOxase, 3-HAO, 0610007K21Rik
MMRRC Submission 039525-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1472 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 84138585-84155392 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84146267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 69 (Q69L)
Ref Sequence ENSEMBL: ENSMUSP00000000687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000687]
AlphaFold Q78JT3
Predicted Effect probably benign
Transcript: ENSMUST00000000687
AA Change: Q69L

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000000687
Gene: ENSMUSG00000000673
AA Change: Q69L

DomainStartEndE-ValueType
Pfam:3-HAO 1 149 1e-78 PFAM
Meta Mutation Damage Score 0.2352 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,773,313 (GRCm39) T834M possibly damaging Het
Ak1 T C 2: 32,520,313 (GRCm39) L32P probably damaging Het
Ankrd24 A G 10: 81,470,754 (GRCm39) D61G probably damaging Het
Atp13a2 T C 4: 140,721,113 (GRCm39) S99P probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Bmp10 A G 6: 87,410,779 (GRCm39) I191V probably benign Het
C2cd6 A T 1: 59,106,944 (GRCm39) S294T possibly damaging Het
C4b T A 17: 34,962,743 (GRCm39) K20* probably null Het
Caps2 C T 10: 112,015,377 (GRCm39) T139I probably benign Het
Cdc25a T C 9: 109,705,157 (GRCm39) S34P probably benign Het
Cenpv T C 11: 62,427,121 (GRCm39) I146V probably benign Het
Cep57 A T 9: 13,732,850 (GRCm39) F32I probably benign Het
Cep85 A G 4: 133,894,711 (GRCm39) W32R probably damaging Het
Cntrl T C 2: 35,059,329 (GRCm39) probably null Het
Cpd A G 11: 76,675,224 (GRCm39) V1299A probably damaging Het
Cpne6 T C 14: 55,752,092 (GRCm39) V283A probably benign Het
Crot A G 5: 9,016,941 (GRCm39) C584R probably damaging Het
Ctsc A C 7: 87,930,670 (GRCm39) H83P possibly damaging Het
Dido1 T C 2: 180,302,513 (GRCm39) N1797S probably benign Het
Dlgap4 C T 2: 156,602,821 (GRCm39) Q148* probably null Het
Dnah3 T C 7: 119,670,181 (GRCm39) D688G probably benign Het
Dnmt1 T C 9: 20,843,472 (GRCm39) E138G probably benign Het
Edc4 T A 8: 106,619,460 (GRCm39) M1396K probably damaging Het
Hsd3b6 A T 3: 98,715,255 (GRCm39) probably null Het
Itpr3 T A 17: 27,333,199 (GRCm39) I1937N probably benign Het
Kcnk15 C A 2: 163,700,127 (GRCm39) T103K probably damaging Het
Kifc3 A G 8: 95,864,541 (GRCm39) probably null Het
Lama3 T A 18: 12,615,102 (GRCm39) F1342Y probably benign Het
Lilra6 A T 7: 3,915,718 (GRCm39) M98K probably damaging Het
Map3k21 T C 8: 126,668,417 (GRCm39) S668P probably benign Het
Mcpt8 T C 14: 56,319,791 (GRCm39) T220A probably benign Het
Mettl13 C T 1: 162,364,736 (GRCm39) V548I possibly damaging Het
Mfsd4b4 A G 10: 39,767,860 (GRCm39) M411T probably benign Het
Mrfap1 A G 5: 36,953,817 (GRCm39) S41P possibly damaging Het
Mroh2b A G 15: 4,978,137 (GRCm39) I1302V probably benign Het
Mrpl45 C T 11: 97,214,681 (GRCm39) R123* probably null Het
Mstn T A 1: 53,101,157 (GRCm39) I78K probably damaging Het
Mtdh T C 15: 34,114,191 (GRCm39) S168P possibly damaging Het
Muc15 G T 2: 110,561,905 (GRCm39) V114F probably damaging Het
Muc6 T C 7: 141,238,144 (GRCm39) E112G probably benign Het
Myocd G T 11: 65,078,330 (GRCm39) H360Q probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Nav3 T C 10: 109,563,802 (GRCm39) E1627G probably damaging Het
Nlrp14 T C 7: 106,781,910 (GRCm39) L369P probably benign Het
Nlrp6 A G 7: 140,503,408 (GRCm39) T505A probably damaging Het
Npbwr1 T C 1: 5,986,900 (GRCm39) S205G probably damaging Het
Nsmaf G A 4: 6,423,448 (GRCm39) R307* probably null Het
Or5h19 A T 16: 58,856,920 (GRCm39) L60Q probably damaging Het
Or9i1b T C 19: 13,897,208 (GRCm39) S275P probably damaging Het
Parp9 T G 16: 35,774,050 (GRCm39) S341A possibly damaging Het
Pdss2 A G 10: 43,289,533 (GRCm39) N346S probably benign Het
Pikfyve T A 1: 65,263,360 (GRCm39) F503Y probably damaging Het
Polr1e G T 4: 45,028,026 (GRCm39) A290S probably damaging Het
Ppp1r21 A T 17: 88,866,033 (GRCm39) H305L probably damaging Het
Prss47 A G 13: 65,197,103 (GRCm39) L117P probably damaging Het
Psmb2 A G 4: 126,580,825 (GRCm39) Y73C probably damaging Het
Rcn2 C T 9: 55,963,537 (GRCm39) P222L probably benign Het
Rnf144b T C 13: 47,396,361 (GRCm39) Y233H probably damaging Het
Rnf17 T C 14: 56,665,436 (GRCm39) L196P probably damaging Het
Sik2 A G 9: 50,920,111 (GRCm39) I22T probably damaging Het
Sis A G 3: 72,796,360 (GRCm39) V1807A probably benign Het
Slc1a2 T A 2: 102,568,254 (GRCm39) I88N probably damaging Het
Slc22a22 A G 15: 57,110,916 (GRCm39) F437S probably benign Het
Slc39a13 A T 2: 90,899,050 (GRCm39) C20* probably null Het
Sos2 C T 12: 69,632,090 (GRCm39) probably null Het
Sst A G 16: 23,709,448 (GRCm39) V16A probably benign Het
Stab1 C T 14: 30,863,543 (GRCm39) G2073D probably benign Het
Stxbp1 A T 2: 32,684,648 (GRCm39) S594T probably benign Het
Sugct A T 13: 17,627,131 (GRCm39) C241S probably benign Het
Svil T A 18: 5,048,950 (GRCm39) C76S probably benign Het
Tcaf1 A G 6: 42,663,382 (GRCm39) V166A possibly damaging Het
Tmem131 A T 1: 36,855,322 (GRCm39) N801K possibly damaging Het
Tox3 T C 8: 90,980,973 (GRCm39) N277S probably damaging Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Trpm2 C A 10: 77,801,841 (GRCm39) V75L probably damaging Het
Tshz1 A C 18: 84,031,930 (GRCm39) L826R possibly damaging Het
Ttn C T 2: 76,597,196 (GRCm39) V19906I probably damaging Het
Wnt5a C T 14: 28,240,461 (GRCm39) R184* probably null Het
Wnt5b G A 6: 119,410,442 (GRCm39) R333C probably damaging Het
Zbtb6 T C 2: 37,319,356 (GRCm39) T191A probably benign Het
Zc3h4 A G 7: 16,168,695 (GRCm39) N935D unknown Het
Zc3h7a C T 16: 10,978,890 (GRCm39) R95H probably damaging Het
Zfp110 T C 7: 12,582,468 (GRCm39) V372A possibly damaging Het
Zmym2 C T 14: 57,148,640 (GRCm39) S318L probably benign Het
Other mutations in Haao
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Haao APN 17 84,142,359 (GRCm39) splice site probably benign
IGL01728:Haao APN 17 84,142,658 (GRCm39) missense probably damaging 1.00
IGL02603:Haao APN 17 84,142,970 (GRCm39) missense probably benign 0.45
IGL03328:Haao APN 17 84,154,078 (GRCm39) missense probably damaging 1.00
R0635:Haao UTSW 17 84,146,003 (GRCm39) missense probably damaging 1.00
R1295:Haao UTSW 17 84,146,267 (GRCm39) missense probably benign 0.38
R1296:Haao UTSW 17 84,146,267 (GRCm39) missense probably benign 0.38
R1563:Haao UTSW 17 84,142,318 (GRCm39) missense probably benign 0.01
R2424:Haao UTSW 17 84,142,991 (GRCm39) missense probably damaging 0.99
R3917:Haao UTSW 17 84,146,228 (GRCm39) critical splice donor site probably null
R4657:Haao UTSW 17 84,139,774 (GRCm39) missense possibly damaging 0.67
R4857:Haao UTSW 17 84,146,009 (GRCm39) critical splice acceptor site probably null
R6475:Haao UTSW 17 84,139,113 (GRCm39) missense possibly damaging 0.87
R6989:Haao UTSW 17 84,139,103 (GRCm39) missense probably damaging 1.00
R7390:Haao UTSW 17 84,154,081 (GRCm39) missense probably damaging 0.99
R8073:Haao UTSW 17 84,142,649 (GRCm39) missense possibly damaging 0.86
R9309:Haao UTSW 17 84,146,270 (GRCm39) missense probably damaging 1.00
R9718:Haao UTSW 17 84,142,215 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAATGTTGAGCTGTGCTCAGGAAGG -3'
(R):5'- CGATGCTAACGCTAACGATGCAGAC -3'

Sequencing Primer
(F):5'- CTCAGGAAGGGGGAGCC -3'
(R):5'- AGGAATATCTCCACTGCTGTG -3'
Posted On 2014-03-28