Mutagenetix > Incidental Mutation

Incidental Mutation 'R7829:Kmo'

628743

Institutional Source

Beutler Lab

Gene Symbol

Kmo

Ensembl Gene

ENSMUSG00000039783

Gene Name

kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7829 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

175620381-175662116 bp(+) (GRCm38)

Type of Mutation

splice site (23 bp from exon)

DNA Base Change (assembly)

A to G at 175650659 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095067 (fasta)

Gene Model

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

AlphaFold

Q91WN4

Predicted Effect

probably null
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 null
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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (61/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	G	11: 58,879,997	L102V	not run	Het
Abca12	A	T	1: 71,292,421	S1323R	probably benign	Het
Abcb1a	T	A	5: 8,698,623	I318N	probably benign	Het
Adam10	A	T	9: 70,766,927	K524*	probably null	Het
Adamts3	C	T	5: 89,861,490	G105R	probably damaging	Het
Adcy7	T	C	8: 88,315,759	I418T	probably damaging	Het
Alg9	T	A	9: 50,788,171	F165L	probably damaging	Het
Anapc2	G	T	2: 25,277,741	R440L	probably damaging	Het
Arhgef17	A	T	7: 100,876,845	H1876Q	probably benign	Het
Armc2	G	A	10: 41,926,860	R606C	probably benign	Het
Cd163	T	C	6: 124,304,779	S14P	probably benign	Het
Cfap74	T	C	4: 155,429,237	V502A		Het
Copb2	T	C	9: 98,588,094	I891T	probably damaging	Het
Creb3	T	C	4: 43,566,322	L276P	probably damaging	Het
Crnkl1	T	A	2: 145,931,349	M126L	probably benign	Het
Csrp2	C	T	10: 110,935,184	A50V	probably damaging	Het
Ctsd	A	G	7: 142,377,142	C284R	probably damaging	Het
Dll3	G	A	7: 28,294,650	A454V	probably damaging	Het
Dmbx1	C	T	4: 115,923,907		probably benign	Het
Dnah6	C	A	6: 73,127,919	E1896*	probably null	Het
Dtwd1	A	G	2: 126,164,759	T234A	probably damaging	Het
Fhod3	G	A	18: 25,115,890		probably null	Het
Gm10549	C	A	18: 33,464,410		probably benign	Het
Gm7298	T	C	6: 121,765,338	I495T	probably damaging	Het
Grhl3	T	C	4: 135,561,221	N51S	probably damaging	Het
Gtpbp4	A	T	13: 8,985,330		probably null	Het
Hsd17b14	A	C	7: 45,566,785	S260R	probably benign	Het
Insig2	A	T	1: 121,307,329		probably null	Het
Itgae	T	A	11: 73,138,792	V1046D	probably benign	Het
Kif1b	A	T	4: 149,220,990		probably null	Het
Loxhd1	A	G	18: 77,408,787	N29S	probably damaging	Het
Lrp1b	A	T	2: 40,903,448	C2484*	probably null	Het
Lrrc23	T	A	6: 124,770,748	M293L	probably benign	Het
Mphosph6	T	C	8: 117,799,068	D47G	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naglu	G	A	11: 101,076,610	R462H	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nlrc5	T	C	8: 94,521,769	S1711P	probably damaging	Het
Olfr129	T	C	17: 38,055,329	Y79C	possibly damaging	Het
Olfr420	A	T	1: 174,158,859	I29F	probably benign	Het
Olfr97	T	C	17: 37,232,310	E20G	probably benign	Het
Osbpl6	G	A	2: 76,593,387	A857T	probably damaging	Het
Oscp1	C	A	4: 126,088,408	D380E	probably benign	Het
Pdzd7	C	A	19: 45,039,239	R265S	probably benign	Het
Piezo2	A	T	18: 63,113,876		probably null	Het
Pigc	G	A	1: 161,970,464	R5H	probably benign	Het
Pla2g5	C	A	4: 138,804,534	R53L	probably benign	Het
Rbm6	T	C	9: 107,852,706	R248G	probably damaging	Het
Rev1	A	T	1: 38,056,445	L877Q	probably damaging	Het
Rpap3	A	T	15: 97,681,708	N474K	probably benign	Het
Ryr2	T	A	13: 11,827,607	E468V	possibly damaging	Het
Samd9l	A	C	6: 3,374,749	D837E	probably benign	Het
Sipa1l2	T	C	8: 125,451,988	N1124S	probably damaging	Het
Slc11a2	G	A	15: 100,409,261	A83V	possibly damaging	Het
Slfn14	A	G	11: 83,281,817		probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Suclg1	A	G	6: 73,275,243		probably null	Het
Syne1	A	C	10: 5,342,293	V1325G	probably damaging	Het
Tmprss15	T	C	16: 78,987,650	S706G	probably benign	Het
Tox2	T	C	2: 163,320,376	Y389H	probably damaging	Het
Trappc10	T	C	10: 78,199,075	T946A	probably benign	Het
Ubqln1	C	T	13: 58,177,905	E546K	probably damaging	Het
Zfp106	A	G	2: 120,524,057	V1411A	possibly damaging	Het
Zkscan5	A	T	5: 145,218,703	K395*	probably null	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
IGL02415:Kmo	APN	1	175649323	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTACTTCATTCAGTAACACAC -3'
(R):5'- ATGTCCAATGCAAAAGTAGGTG -3'

Sequencing Primer
(F):5'- CTTCATTCAGTAACACACATGCAATG -3'
(R):5'- CAAAAGTAGGTGATAAAAATATTATA -3'

Posted On

2020-06-18