Incidental Mutation 'IGL02603:Haao'
| ID |
300158 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Haao
|
| Ensembl Gene |
ENSMUSG00000000673 |
| Gene Name |
3-hydroxyanthranilate 3,4-dioxygenase |
| Synonyms |
3HAO, 0610012J07Rik, 3-HAOxase, 3-HAO, 0610007K21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02603
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
84138585-84155392 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84142970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q78JT3 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,637,071 (GRCm39) |
S3457P |
possibly damaging |
Het |
| Aipl1 |
A |
G |
11: 71,927,526 (GRCm39) |
I63T |
possibly damaging |
Het |
| Atp7b |
C |
T |
8: 22,484,792 (GRCm39) |
V1307M |
possibly damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,289 (GRCm39) |
S286P |
possibly damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,280,807 (GRCm39) |
R946H |
probably damaging |
Het |
| Fam98c |
A |
G |
7: 28,853,873 (GRCm39) |
S232P |
probably damaging |
Het |
| Glt1d1 |
G |
T |
5: 127,709,409 (GRCm39) |
R21L |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,125,436 (GRCm39) |
|
noncoding transcript |
Het |
| Hipk1 |
A |
G |
3: 103,657,588 (GRCm39) |
V832A |
probably damaging |
Het |
| Lrrtm4 |
C |
A |
6: 79,999,967 (GRCm39) |
Q460K |
possibly damaging |
Het |
| Lyar |
A |
G |
5: 38,391,405 (GRCm39) |
N368S |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Lztr1 |
C |
A |
16: 17,327,550 (GRCm39) |
N84K |
possibly damaging |
Het |
| Ndufa8 |
C |
A |
2: 35,934,470 (GRCm39) |
C36F |
probably damaging |
Het |
| Or11g24 |
T |
A |
14: 50,662,657 (GRCm39) |
V227E |
probably damaging |
Het |
| Or2n1d |
T |
A |
17: 38,646,404 (GRCm39) |
S119T |
probably damaging |
Het |
| Psg19 |
A |
G |
7: 18,526,693 (GRCm39) |
S146P |
probably benign |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Spopfm3 |
A |
T |
3: 94,105,744 (GRCm39) |
T21S |
possibly damaging |
Het |
|
| Other mutations in Haao |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R1472: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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation