Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02415:Kmo'

292431

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kmo

Ensembl Gene

ENSMUSG00000039783

Gene Name

kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02415

Quality Score

Status

Chromosome

Chromosomal Location

175620381-175662116 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 175649323 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040250] [ENSMUST00000097458] [ENSMUST00000140474]

AlphaFold

Q91WN4

Predicted Effect

probably benign
Transcript: ENSMUST00000040250

SMART Domains

Protein: ENSMUSP00000038914
Gene: ENSMUSG00000039783

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	9	328	5.6e-22	PFAM
Pfam:NAD_binding_8	13	63	2.2e-7	PFAM
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097458

SMART Domains

Protein: ENSMUSP00000095067
Gene: ENSMUSG00000039783

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	9	328	5.8e-22	PFAM
Pfam:NAD_binding_8	13	63	2.1e-7	PFAM
transmembrane domain	391	413	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137174

Predicted Effect

probably benign
Transcript: ENSMUST00000140474

SMART Domains

Protein: ENSMUSP00000122943
Gene: ENSMUSG00000039783

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_3	44	240	2.9e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142223

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene as a therapeutic target for Huntington disease. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele lack kynurenine 3-monooxygenase activity and altered levels of several tryptophan metabolites. Mice homozygous for another null allele exhibit increased LPS-induced depressive behaviors and altered kynurenine metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,947,991	D124G	probably benign	Het
Adamts13	T	A	2: 26,989,283	I616N	possibly damaging	Het
Adamts3	T	C	5: 89,706,647		probably null	Het
Amy1	T	C	3: 113,563,585	I202V	probably benign	Het
Bdp1	G	A	13: 100,089,408	T322I	probably damaging	Het
Cep295	A	G	9: 15,353,020	L110S	probably damaging	Het
Cep72	T	C	13: 74,050,154	D369G	probably benign	Het
Chd3	A	T	11: 69,348,913		probably benign	Het
Ckmt2	G	A	13: 91,863,340		probably benign	Het
Cyp2s1	T	C	7: 25,808,137	T296A	probably damaging	Het
E2f5	T	A	3: 14,603,897	V283E	probably benign	Het
F5	A	G	1: 164,191,929	T658A	probably damaging	Het
Fam102b	A	G	3: 108,980,292	Y219H	probably damaging	Het
Gml	A	T	15: 74,816,440	Y59*	probably null	Het
Krt25	A	T	11: 99,322,572	I107N	probably damaging	Het
Llgl2	A	G	11: 115,853,285	M773V	probably damaging	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Med12	T	C	X: 101,281,790	V761A	probably damaging	Het
Mrpl19	T	C	6: 81,963,961	T150A	probably benign	Het
Muc2	G	T	7: 141,751,872	E646*	probably null	Het
Muc20	T	A	16: 32,794,681	T109S	unknown	Het
Nr2f6	T	C	8: 71,374,512	T382A	probably benign	Het
Nrap	A	G	19: 56,382,309	I172T	probably damaging	Het
Olfr1434	A	G	19: 12,283,498	Y150C	probably benign	Het
Olfr911-ps1	T	C	9: 38,524,112	C127R	probably benign	Het
P3h1	A	T	4: 119,247,955	Q710L	probably benign	Het
Parvb	A	G	15: 84,292,815	H185R	probably damaging	Het
Pkhd1	A	G	1: 20,414,421	I1970T	probably damaging	Het
Pkhd1	T	C	1: 20,522,759	Y1710C	probably damaging	Het
Plxna2	C	A	1: 194,643,964	R69S	probably damaging	Het
Rad51ap2	A	G	12: 11,456,929	N284S	possibly damaging	Het
Reln	T	A	5: 21,971,951	S1906C	possibly damaging	Het
Rln1	T	C	19: 29,334,398	R67G	probably damaging	Het
Shcbp1	C	T	8: 4,754,239	V224I	possibly damaging	Het
Slc13a4	A	G	6: 35,283,237		probably null	Het
Stx6	A	G	1: 155,193,313	E195G	possibly damaging	Het
Sult2b1	G	T	7: 45,742,085	D90E	possibly damaging	Het
Taok1	A	G	11: 77,540,240		probably benign	Het
Tbx15	A	T	3: 99,352,510	M566L	probably benign	Het
Tcaf1	C	T	6: 42,686,650	A99T	probably benign	Het
Tcf20	T	A	15: 82,853,459	M1264L	probably benign	Het
Tenm4	G	A	7: 96,874,074	V1571M	probably damaging	Het
Ttc39a	A	G	4: 109,431,529		probably benign	Het
Ubr1	C	A	2: 120,970,603		probably benign	Het
Ulk1	T	C	5: 110,787,621	D926G	probably damaging	Het
Vmn2r110	T	C	17: 20,583,771	I181V	probably benign	Het
Vmn2r66	G	A	7: 85,006,812	T332I	probably damaging	Het
Wdr1	C	A	5: 38,531,110	D161Y	probably damaging	Het
Wnt7a	T	C	6: 91,394,557	Y141C	probably damaging	Het
Xrra1	G	A	7: 99,915,943	E573K	probably benign	Het
Zfp334	G	T	2: 165,381,851	Q91K	possibly damaging	Het

Other mutations in Kmo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Kmo	APN	1	175655095	missense	possibly damaging	0.54
IGL01734:Kmo	APN	1	175655102	missense	probably benign	0.00
IGL02551:Kmo	APN	1	175637919	missense	probably damaging	1.00
IGL02866:Kmo	APN	1	175653588	missense	probably damaging	1.00
IGL03140:Kmo	APN	1	175649220	missense	probably damaging	1.00
R0613:Kmo	UTSW	1	175637892	missense	probably damaging	1.00
R0617:Kmo	UTSW	1	175647190	missense	possibly damaging	0.85
R0883:Kmo	UTSW	1	175647140	missense	possibly damaging	0.70
R1034:Kmo	UTSW	1	175651618	missense	possibly damaging	0.95
R1037:Kmo	UTSW	1	175651618	missense	possibly damaging	0.95
R1164:Kmo	UTSW	1	175658559	missense	probably benign	0.00
R1519:Kmo	UTSW	1	175651618	missense	possibly damaging	0.95
R1519:Kmo	UTSW	1	175656802	missense	probably damaging	1.00
R1712:Kmo	UTSW	1	175656723	missense	probably benign
R1796:Kmo	UTSW	1	175637895	missense	probably benign	0.00
R1938:Kmo	UTSW	1	175651588	missense	possibly damaging	0.88
R4531:Kmo	UTSW	1	175659707	splice site	probably null
R4586:Kmo	UTSW	1	175650572	missense	probably damaging	1.00
R4586:Kmo	UTSW	1	175650573	missense	possibly damaging	0.90
R4603:Kmo	UTSW	1	175651642	missense	probably benign	0.13
R4647:Kmo	UTSW	1	175659774	nonsense	probably null
R4728:Kmo	UTSW	1	175656763	missense	possibly damaging	0.51
R5569:Kmo	UTSW	1	175655122	missense	probably benign	0.04
R5571:Kmo	UTSW	1	175647194	missense	possibly damaging	0.46
R6109:Kmo	UTSW	1	175637908	missense	possibly damaging	0.67
R6244:Kmo	UTSW	1	175659695	missense	possibly damaging	0.91
R6943:Kmo	UTSW	1	175658375	missense	probably benign	0.00
R7148:Kmo	UTSW	1	175651602	missense	probably damaging	1.00
R7319:Kmo	UTSW	1	175653655	missense	probably damaging	0.97
R7450:Kmo	UTSW	1	175639100	missense	probably benign	0.01
R7545:Kmo	UTSW	1	175653628	missense	probably damaging	1.00
R7829:Kmo	UTSW	1	175650659	splice site	probably null
R7916:Kmo	UTSW	1	175659670	missense	probably damaging	1.00
R8169:Kmo	UTSW	1	175649163	missense	probably benign	0.10
R8515:Kmo	UTSW	1	175647152	missense	probably damaging	1.00
R9056:Kmo	UTSW	1	175637542	missense	probably damaging	0.99
R9659:Kmo	UTSW	1	175658519	missense	probably damaging	1.00
R9686:Kmo	UTSW	1	175632220	start codon destroyed	probably null	0.07
X0027:Kmo	UTSW	1	175647193	missense	probably benign	0.00
Z1177:Kmo	UTSW	1	175649186	missense	probably damaging	1.00

Posted On

2015-04-16