Mutagenetix > Incidental Mutation

Incidental Mutation 'R0635:Haao'

56644

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

038824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0635 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84138585-84155392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84146003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 83 (F83S)

Ref Sequence

ENSEMBL: ENSMUSP00000000687 (fasta)

Gene Model

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

AlphaFold

Q78JT3

Predicted Effect

probably damaging
Transcript: ENSMUST00000000687
AA Change: F83S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000000687
Gene: ENSMUSG00000000673
AA Change: F83S

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

Meta Mutation Damage Score

0.9397

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,264,891 (GRCm39)		probably benign	Het
Adamts15	A	G	9: 30,816,066 (GRCm39)	L631P	probably damaging	Het
Adamts17	T	C	7: 66,558,353 (GRCm39)	F266L	probably damaging	Het
Adgrb1	C	A	15: 74,412,741 (GRCm39)	Q488K	possibly damaging	Het
Armh4	A	G	14: 50,010,600 (GRCm39)	L369S	probably benign	Het
Cep290	A	G	10: 100,328,538 (GRCm39)	D109G	probably damaging	Het
Chil5	A	T	3: 105,924,519 (GRCm39)	Y229N	possibly damaging	Het
Cntnap1	A	G	11: 101,074,285 (GRCm39)	T742A	probably benign	Het
Col6a3	A	T	1: 90,735,808 (GRCm39)		probably null	Het
Col6a5	G	A	9: 105,805,805 (GRCm39)	P1034S	unknown	Het
Daxx	T	A	17: 34,131,618 (GRCm39)	D442E	probably benign	Het
Dmxl1	T	C	18: 49,984,490 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 117,971,731 (GRCm39)	F2942S	probably damaging	Het
Garin4	T	C	1: 190,895,924 (GRCm39)	T240A	probably benign	Het
Glg1	A	G	8: 111,890,396 (GRCm39)		probably benign	Het
Gm10272	G	A	10: 77,542,535 (GRCm39)		probably benign	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,649,766 (GRCm39)		noncoding transcript	Het
Hdgfl2	T	A	17: 56,403,057 (GRCm39)	L177Q	probably damaging	Het
Hrh1	T	C	6: 114,457,106 (GRCm39)	V129A	probably damaging	Het
Ift43	T	A	12: 86,131,855 (GRCm39)		probably benign	Het
Il21r	T	C	7: 125,231,678 (GRCm39)	Y369H	probably damaging	Het
Il2ra	C	T	2: 11,685,177 (GRCm39)	T171M	probably benign	Het
Lao1	C	T	4: 118,825,493 (GRCm39)	R438C	probably benign	Het
Lrrcc1	G	A	3: 14,624,288 (GRCm39)	S350N	probably benign	Het
Mageb5	T	A	X: 90,823,599 (GRCm39)	Y260F	probably benign	Het
Marchf5	A	T	19: 37,197,807 (GRCm39)	I159F	possibly damaging	Het
Mgat4a	G	A	1: 37,491,375 (GRCm39)	A282V	probably benign	Het
Mipep	G	A	14: 61,066,839 (GRCm39)	V420I	probably damaging	Het
Morc2b	A	T	17: 33,356,661 (GRCm39)	F370L	possibly damaging	Het
Mt1	A	T	8: 94,906,449 (GRCm39)		probably null	Het
Ncapd2	A	G	6: 125,149,999 (GRCm39)	V943A	probably benign	Het
Nkd2	T	C	13: 73,975,013 (GRCm39)	D58G	probably benign	Het
Nol8	C	G	13: 49,830,234 (GRCm39)	S1106C	probably benign	Het
Nrm	C	A	17: 36,175,156 (GRCm39)	Y61*	probably null	Het
Nusap1	A	G	2: 119,458,148 (GRCm39)	T95A	probably damaging	Het
Ocln	T	A	13: 100,642,744 (GRCm39)	Q197L	probably damaging	Het
Or5p70	T	A	7: 107,994,971 (GRCm39)	F215I	probably benign	Het
Oxtr	A	G	6: 112,466,161 (GRCm39)	Y200H	probably damaging	Het
Paip2b	T	C	6: 83,786,891 (GRCm39)	E115G	possibly damaging	Het
Pcm1	T	A	8: 41,720,216 (GRCm39)		probably benign	Het
Pcnt	T	C	10: 76,240,419 (GRCm39)	D1205G	probably damaging	Het
Phka1	G	A	X: 101,665,006 (GRCm39)	R186C	probably damaging	Het
Pik3cb	A	G	9: 98,946,271 (GRCm39)		probably benign	Het
Pik3r1	C	T	13: 101,893,926 (GRCm39)	R81K	probably benign	Het
Ppa1	A	G	10: 61,501,219 (GRCm39)	D162G	probably benign	Het
Ppa1	A	G	10: 61,502,749 (GRCm39)	R191G	probably damaging	Het
Ppp4r3c2	T	C	X: 88,796,128 (GRCm39)		probably benign	Het
Prss22	T	A	17: 24,215,662 (GRCm39)	T87S	probably benign	Het
Rgr	T	A	14: 36,760,904 (GRCm39)	R218*	probably null	Het
Rreb1	A	T	13: 38,125,540 (GRCm39)	Q1282L	possibly damaging	Het
Scel	T	A	14: 103,820,575 (GRCm39)		probably null	Het
Sema6b	A	G	17: 56,436,971 (GRCm39)		probably null	Het
Slc4a1	T	C	11: 102,243,498 (GRCm39)	E711G	possibly damaging	Het
Snx19	C	A	9: 30,340,106 (GRCm39)	L415M	probably damaging	Het
Snx19	T	G	9: 30,340,107 (GRCm39)	L415R	probably damaging	Het
Specc1	G	A	11: 62,009,729 (GRCm39)	R495Q	probably damaging	Het
Tead1	T	C	7: 112,490,913 (GRCm39)		probably benign	Het
Timm10b	A	C	7: 105,289,895 (GRCm39)		probably benign	Het
Ubxn7	T	A	16: 32,186,235 (GRCm39)		probably benign	Het
Vmn2r116	T	A	17: 23,605,861 (GRCm39)	Y258N	possibly damaging	Het
Vmn2r77	T	A	7: 86,460,383 (GRCm39)	F570I	probably benign	Het
Vmn2r98	T	C	17: 19,300,759 (GRCm39)	V587A	probably benign	Het
Zfp398	T	C	6: 47,840,074 (GRCm39)	I101T	probably damaging	Het
Zfp808	T	A	13: 62,320,233 (GRCm39)	H487Q	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
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

Predicted Primers

PCR Primer
(F):5'- CGCAGTATTTGCCCATACCAGGAC -3'
(R):5'- TGAGGCTGACCCCAAAGAAAGC -3'

Sequencing Primer
(F):5'- CCATACCAGGACATGTGGC -3'
(R):5'- GTGGCCGAGCAGAAACC -3'

Posted On

2013-07-11