Mutagenetix > Incidental Mutation

Incidental Mutation 'R6475:Haao'

517408

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

044608-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6475 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84138585-84155392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84139113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 274 (S274P)

Ref Sequence

ENSEMBL: ENSMUSP00000000687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000687]

AlphaFold

Q78JT3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000687
AA Change: S274P

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000687
Gene: ENSMUSG00000000673
AA Change: S274P

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

Meta Mutation Damage Score

0.1862

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

96% (54/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb5	T	A	8: 55,003,610 (GRCm39)	V44E	probably damaging	Het
Bmpr2	T	A	1: 59,907,503 (GRCm39)	D865E	probably damaging	Het
Ccr4	A	G	9: 114,322,047 (GRCm39)	V6A	probably benign	Het
Cd209a	A	T	8: 3,797,031 (GRCm39)	D102E	probably damaging	Het
Cdh18	A	G	15: 23,227,022 (GRCm39)	D161G	possibly damaging	Het
Cog4	T	A	8: 111,607,526 (GRCm39)	I671N	possibly damaging	Het
Col14a1	T	G	15: 55,309,218 (GRCm39)		probably benign	Het
Cpne6	A	G	14: 55,751,110 (GRCm39)	D173G	probably damaging	Het
Daglb	G	T	5: 143,467,406 (GRCm39)	V275L	probably benign	Het
Defb43	G	T	14: 63,249,321 (GRCm39)		probably null	Het
Dhx30	A	G	9: 109,914,120 (GRCm39)	V1022A	possibly damaging	Het
Egfem1	A	T	3: 29,711,312 (GRCm39)	K297M	probably damaging	Het
Egfr	A	G	11: 16,841,259 (GRCm39)	I717V	probably benign	Het
Eif2ak1	T	G	5: 143,803,765 (GRCm39)		probably null	Het
Epb42	T	C	2: 120,857,614 (GRCm39)	Y307C	possibly damaging	Het
Erlec1	G	A	11: 30,898,442 (GRCm39)	Q10*	probably null	Het
Fam185a	A	G	5: 21,630,281 (GRCm39)	D39G	probably benign	Het
Fbxl4	T	A	4: 22,433,661 (GRCm39)	D599E	probably damaging	Het
Fgfr2	T	A	7: 129,802,850 (GRCm39)	T268S	probably benign	Het
Gabra1	A	T	11: 42,053,382 (GRCm39)	M84K	probably benign	Het
Gba1	A	G	3: 89,113,235 (GRCm39)	D222G	probably benign	Het
Gm3409	T	A	5: 146,474,596 (GRCm39)	H37Q	possibly damaging	Het
Gm4559	A	G	7: 141,827,887 (GRCm39)	C72R	unknown	Het
Grik4	T	C	9: 42,540,304 (GRCm39)	N292S	probably benign	Het
Hsd17b4	T	A	18: 50,305,329 (GRCm39)		probably null	Het
Igdcc4	A	T	9: 65,027,603 (GRCm39)	S222C	probably damaging	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Itgb7	T	A	15: 102,124,701 (GRCm39)	D772V	probably benign	Het
Kif14	T	C	1: 136,455,149 (GRCm39)	L1607P	probably damaging	Het
Klf5	A	G	14: 99,538,817 (GRCm39)	T77A	probably benign	Het
Klhl29	C	T	12: 5,141,030 (GRCm39)	V605I	probably damaging	Het
Map4k1	T	C	7: 28,686,447 (GRCm39)	V105A	probably damaging	Het
Mctp2	A	T	7: 71,850,092 (GRCm39)		probably null	Het
Med12l	A	G	3: 59,164,500 (GRCm39)	E1364G	probably damaging	Het
Mup9	A	T	4: 60,375,805 (GRCm39)	D30E	possibly damaging	Het
Naip1	T	C	13: 100,545,596 (GRCm39)	R1311G	probably damaging	Het
Or2ag2	A	G	7: 106,485,604 (GRCm39)	V140A	probably benign	Het
Or2v1	C	T	11: 49,025,760 (GRCm39)	T247I	probably benign	Het
Or4f14	G	A	2: 111,743,204 (GRCm39)	Q24*	probably null	Het
Or8g28	T	A	9: 39,169,378 (GRCm39)	M197L	probably benign	Het
Pkd1l3	A	C	8: 110,349,844 (GRCm39)	T230P	unknown	Het
Pthlh	G	T	6: 147,158,688 (GRCm39)	H91N	probably damaging	Het
Rapgef5	T	A	12: 117,681,942 (GRCm39)	V239D	probably damaging	Het
Rita1	G	A	5: 120,749,635 (GRCm39)	T26I	probably damaging	Het
Robo3	T	C	9: 37,334,586 (GRCm39)	T615A	probably damaging	Het
Rpp38	T	C	2: 3,330,644 (GRCm39)	D86G	probably benign	Het
Sec31a	T	C	5: 100,533,129 (GRCm39)	T539A	probably damaging	Het
Senp2	G	T	16: 21,842,550 (GRCm39)	V205L	probably damaging	Het
Septin10	T	C	10: 59,028,133 (GRCm39)	N63D	possibly damaging	Het
Sez6	A	G	11: 77,864,670 (GRCm39)			Het
Spesp1	C	T	9: 62,179,715 (GRCm39)	V398I	probably benign	Het
Tmbim7	G	A	5: 3,714,319 (GRCm39)	G19S	probably benign	Het
Tnni3k	A	T	3: 154,646,695 (GRCm39)	L431*	probably null	Het
Trdn	T	A	10: 33,340,551 (GRCm39)		probably null	Het
Tubb2a	A	G	13: 34,259,442 (GRCm39)	V116A	possibly damaging	Het
Ush1c	T	C	7: 45,878,643 (GRCm39)	D124G	probably damaging	Het
Zfp768	A	T	7: 126,943,827 (GRCm39)	F103L	probably damaging	Het
Zfp799	A	G	17: 33,039,820 (GRCm39)	S149P	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
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
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'- TGCCAGTGACAGCTCTCAAC -3'
(R):5'- TCCTCTAAGGTGACAATGGGAGG -3'

Sequencing Primer
(F):5'- GCTCTCAACCACTCAAGGGG -3'
(R):5'- TATAGCCCTGGCCCCAGATG -3'

Posted On

2018-05-21