Mutagenetix > Incidental Mutations

Incidental Mutation 'R0099:Kynu'

33132

Institutional Source

Beutler Lab

Gene Symbol

Kynu

Ensembl Gene

ENSMUSG00000026866

Gene Name

kynureninase (L-kynurenine hydrolase)

Synonyms

MMRRC Submission

038385-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0099 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43555329-43682715 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 43629053 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028223] [ENSMUST00000050511] [ENSMUST00000112826]

Predicted Effect

probably null
Transcript: ENSMUST00000028223

SMART Domains

Protein: ENSMUSP00000028223
Gene: ENSMUSG00000026866

Domain	Start	End	E-Value	Type
Pfam:Aminotran_5	70	400	3.8e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000050511

SMART Domains

Protein: ENSMUSP00000061775
Gene: ENSMUSG00000026866

Domain	Start	End	E-Value	Type
Pfam:Aminotran_5	70	307	7.8e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000112826

SMART Domains

Protein: ENSMUSP00000108445
Gene: ENSMUSG00000026866

Domain	Start	End	E-Value	Type
Pfam:Aminotran_5	70	405	8.4e-17	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018M24Rik	C	T	14: 50,896,722		probably benign	Het
Acad10	A	C	5: 121,621,290	D1043E	probably damaging	Het
Adamtsl4	C	T	3: 95,684,139	G173R	probably benign	Het
Astn1	G	T	1: 158,502,151	S192I	probably damaging	Het
Atg2a	T	A	19: 6,252,789	V1010E	probably damaging	Het
C130079G13Rik	A	C	3: 59,936,435	K183N	probably benign	Het
Col11a2	A	G	17: 34,049,674	E311G	probably damaging	Het
Col4a3	A	C	1: 82,717,993	E1638A	probably benign	Het
Cstf2t	A	G	19: 31,083,831	R256G	probably benign	Het
Cyp4a12a	T	C	4: 115,326,672	L225P	probably damaging	Het
Diexf	A	G	1: 193,128,470	L75P	probably damaging	Het
Dnah5	G	A	15: 28,239,934	R479H	probably damaging	Het
Dsg3	A	G	18: 20,540,022	I917V	probably benign	Het
Fam76a	G	T	4: 132,910,787		probably benign	Het
Fras1	T	A	5: 96,614,917		probably null	Het
Gli1	A	G	10: 127,336,006	V293A	probably damaging	Het
Gm10782	T	A	13: 56,363,143		noncoding transcript	Het
Greb1l	A	G	18: 10,509,158	E490G	probably damaging	Het
Hydin	G	A	8: 110,589,561	G4362R	probably damaging	Het
Ica1	A	T	6: 8,749,778		probably benign	Het
Ikzf4	T	A	10: 128,634,197	I485F	probably damaging	Het
Irf5	A	G	6: 29,533,967	T34A	probably damaging	Het
Krt81	A	T	15: 101,463,521	C59*	probably null	Het
Ly6g6c	T	C	17: 35,068,915	V61A	probably damaging	Het
Manea	A	C	4: 26,328,104	I312M	probably damaging	Het
Micall1	G	T	15: 79,131,901		probably benign	Het
Mthfs	A	T	9: 89,226,163		probably benign	Het
Myh4	A	G	11: 67,259,347	T1877A	probably benign	Het
Myo3a	T	C	2: 22,245,598	I92T	probably benign	Het
Nepn	A	G	10: 52,401,085	S306G	probably damaging	Het
Nol8	T	C	13: 49,672,689	V995A	probably benign	Het
Olfr1453	A	G	19: 13,027,801	F176S	probably damaging	Het
Olfr1458	T	A	19: 13,103,140	T49S	probably benign	Het
Olfr160	A	T	9: 37,711,454	V275E	probably damaging	Het
Olfr967	A	G	9: 39,750,661	I92V	possibly damaging	Het
Pde1a	T	A	2: 79,868,313		probably null	Het
Phf14	A	G	6: 11,987,697		probably benign	Het
Plekhh2	C	T	17: 84,591,672	Q1026*	probably null	Het
Polr2b	T	A	5: 77,320,950		probably benign	Het
Ppp1r36	G	T	12: 76,436,282		probably null	Het
Prdm14	A	T	1: 13,118,945	C392S	probably damaging	Het
Rabgap1l	A	G	1: 160,682,116	S436P	possibly damaging	Het
Rfc2	A	T	5: 134,595,281		probably null	Het
Rfx4	A	T	10: 84,894,304	M437L	probably benign	Het
Rgs17	T	A	10: 5,842,583	R74S	probably benign	Het
Rnf139	C	A	15: 58,899,415	L430I	probably damaging	Het
Sgsm1	C	A	5: 113,274,360		probably benign	Het
Skint6	T	A	4: 112,811,501	T1126S	possibly damaging	Het
Slc15a2	T	C	16: 36,753,036	E602G	probably damaging	Het
Stpg2	T	C	3: 139,243,193		probably benign	Het
Sycp2l	T	C	13: 41,129,525		probably benign	Het
Tlr11	A	T	14: 50,360,818	N87I	probably benign	Het
Tril	A	G	6: 53,818,363	F625L	probably damaging	Het
Ube3c	T	A	5: 29,607,064	V434E	probably damaging	Het
Usp34	G	A	11: 23,363,111	G533R	probably damaging	Het
Zfp93	G	T	7: 24,275,475	R295L	probably benign	Het

Other mutations in Kynu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Kynu	APN	2	43671382	missense	possibly damaging	0.91
IGL01974:Kynu	APN	2	43681340	unclassified	probably benign
R0304:Kynu	UTSW	2	43679881	missense	probably damaging	0.99
R1681:Kynu	UTSW	2	43679825	missense	probably damaging	1.00
R1799:Kynu	UTSW	2	43604157	missense	possibly damaging	0.65
R2016:Kynu	UTSW	2	43604277	nonsense	probably null
R2345:Kynu	UTSW	2	43581385	missense	probably damaging	1.00
R3085:Kynu	UTSW	2	43602300	missense	probably benign	0.00
R3825:Kynu	UTSW	2	43681439	missense	probably benign
R4091:Kynu	UTSW	2	43679872	missense	possibly damaging	0.94
R4241:Kynu	UTSW	2	43681410	missense	probably benign	0.00
R4594:Kynu	UTSW	2	43679890	missense	probably benign	0.00
R4673:Kynu	UTSW	2	43679803	missense	probably damaging	1.00
R4871:Kynu	UTSW	2	43679818	missense	possibly damaging	0.58
R5371:Kynu	UTSW	2	43589394	missense	probably benign	0.00
R6272:Kynu	UTSW	2	43634989	missense	probably benign	0.01
R6342:Kynu	UTSW	2	43681451	missense	probably benign	0.09
R6866:Kynu	UTSW	2	43563110	nonsense	probably null
R7203:Kynu	UTSW	2	43681353	missense	probably damaging	1.00
R8163:Kynu	UTSW	2	43628954	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-05-09