Mutagenetix > Incidental Mutation

Incidental Mutation 'R1296:Haao'

158158

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

039362-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1296 (G1)

Quality Score

225

Status

Validated

Chromosome

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

Domain	Start	End	E-Value	Type
Pfam:3-HAO	1	149	1e-78	PFAM

Meta Mutation Damage Score

0.2352

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.5%
20x: 87.1%

Validation Efficiency

100% (72/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	G	A	8: 56,324,754 (GRCm39)	Q567*	probably null	Het
Apol11a	T	C	15: 77,395,219 (GRCm39)		probably benign	Het
Arhgap29	A	G	3: 121,786,044 (GRCm39)	H275R	probably benign	Het
Arhgef17	C	A	7: 100,530,476 (GRCm39)	E428*	probably null	Het
Atm	A	T	9: 53,367,830 (GRCm39)	V2431E	probably damaging	Het
Atn1	G	T	6: 124,724,750 (GRCm39)	P161Q	unknown	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Atp8a1	A	T	5: 67,780,049 (GRCm39)		probably benign	Het
Cdk18	T	C	1: 132,047,698 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Cntn4	G	T	6: 106,486,363 (GRCm39)	G264C	probably damaging	Het
Col6a4	A	G	9: 105,940,052 (GRCm39)	S1293P	possibly damaging	Het
Col6a6	T	C	9: 105,658,290 (GRCm39)	K641E	probably damaging	Het
Dmd	A	T	X: 82,922,126 (GRCm39)	K1465N	probably damaging	Het
Dus2	T	C	8: 106,779,675 (GRCm39)	V403A	possibly damaging	Het
Frs2	C	T	10: 116,916,979 (GRCm39)	C5Y	probably benign	Het
Gm5174	A	G	10: 86,492,866 (GRCm39)		noncoding transcript	Het
Gpr61	A	G	3: 108,057,797 (GRCm39)	V288A	possibly damaging	Het
Grik3	G	A	4: 125,598,357 (GRCm39)		probably benign	Het
Ints6	T	C	14: 62,942,352 (GRCm39)		probably benign	Het
Ints8	T	C	4: 11,221,204 (GRCm39)	I724V	possibly damaging	Het
Lrrk2	G	A	15: 91,613,123 (GRCm39)	C749Y	probably damaging	Het
Map4k1	A	G	7: 28,697,877 (GRCm39)	D471G	possibly damaging	Het
Mbtd1	A	G	11: 93,801,185 (GRCm39)	Y122C	probably damaging	Het
Mif-ps9	T	A	19: 56,743,766 (GRCm39)		noncoding transcript	Het
Mrfap1	A	G	5: 36,953,817 (GRCm39)	S41P	possibly damaging	Het
Mrm2	T	C	5: 140,314,308 (GRCm39)	T176A	probably benign	Het
Mslnl	T	C	17: 25,962,214 (GRCm39)	L204P	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Nfyb	A	G	10: 82,586,665 (GRCm39)		probably benign	Het
Nlgn3	T	C	X: 100,352,522 (GRCm39)		probably benign	Het
Nr3c1	G	A	18: 39,620,051 (GRCm39)	Q79*	probably null	Het
Nxpe4	C	G	9: 48,307,793 (GRCm39)	T299R	probably benign	Het
Otud4	C	A	8: 80,400,603 (GRCm39)	H1105N	unknown	Het
Pcnx2	A	G	8: 126,500,572 (GRCm39)	L1506P	probably damaging	Het
Prl2c5	T	A	13: 13,364,009 (GRCm39)	H88Q	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rbl1	A	T	2: 157,011,891 (GRCm39)	V688D	probably benign	Het
Rhox2g	C	A	X: 36,824,865 (GRCm39)		probably benign	Het
Rmnd5a	G	A	6: 71,375,439 (GRCm39)	L80F	probably benign	Het
Ryr2	T	C	13: 11,702,765 (GRCm39)		probably benign	Het
Sele	T	A	1: 163,878,379 (GRCm39)	S239R	probably damaging	Het
Siglecf	A	T	7: 43,005,344 (GRCm39)	R435*	probably null	Het
Slc23a1	C	T	18: 35,755,676 (GRCm39)	V407M	possibly damaging	Het
Slc6a14	G	A	X: 21,587,807 (GRCm39)	V122I	probably benign	Het
Spdl1	T	A	11: 34,704,434 (GRCm39)	E466D	unknown	Het
Stau2	A	G	1: 16,510,596 (GRCm39)	F121L	probably benign	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sufu	G	A	19: 46,443,159 (GRCm39)		probably benign	Het
Tap2	G	T	17: 34,430,889 (GRCm39)	V330L	probably benign	Het
Tbc1d1	T	C	5: 64,421,775 (GRCm39)	L389P	probably damaging	Het
Tbx2	A	G	11: 85,725,592 (GRCm39)	E181G	probably damaging	Het
Tlcd4	A	G	3: 121,000,940 (GRCm39)	V231A	probably benign	Het
Tmprss9	G	T	10: 80,726,279 (GRCm39)	A510S	probably benign	Het
Tnxb	G	A	17: 34,890,551 (GRCm39)	C298Y	probably damaging	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Ugt2a3	A	T	5: 87,475,005 (GRCm39)	L413Q	probably damaging	Het
Vcan	A	G	13: 89,805,675 (GRCm39)	I2335T	probably damaging	Het
Vmn2r28	T	C	7: 5,484,544 (GRCm39)	N552S	possibly damaging	Het
Zc3h7a	C	T	16: 10,978,890 (GRCm39)	R95H	probably damaging	Het
Zfp598	A	G	17: 24,898,623 (GRCm39)	N474S	probably benign	Het
Zng1	A	T	19: 24,920,039 (GRCm39)		probably benign	Het
Zpld1	T	C	16: 55,068,697 (GRCm39)	D138G	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GAATGTTGAGCTGTGCTCAGGAAGG -3'
(R):5'- CGATGCTAACGCTAACGATGCAGAC -3'

Sequencing Primer
(F):5'- CTCAGGAAGGGGGAGCC -3'
(R):5'- AGGAATATCTCCACTGCTGTG -3'

Posted On

2014-02-18