Mutagenetix > Incidental Mutations

Incidental Mutation 'R6866:Kynu'

535899

Institutional Source

Beutler Lab

Gene Symbol

Kynu

Ensembl Gene

ENSMUSG00000026866

Gene Name

kynureninase (L-kynurenine hydrolase)

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43555329-43682715 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 43563110 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 48 (Y48*)

Ref Sequence

ENSEMBL: ENSMUSP00000108445 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000028223
AA Change: Y48*

SMART Domains

Protein: ENSMUSP00000028223
Gene: ENSMUSG00000026866
AA Change: Y48*

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

Predicted Effect

probably null
Transcript: ENSMUST00000050511
AA Change: Y48*

SMART Domains

Protein: ENSMUSP00000061775
Gene: ENSMUSG00000026866
AA Change: Y48*

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

Predicted Effect

probably null
Transcript: ENSMUST00000112826
AA Change: Y48*

SMART Domains

Protein: ENSMUSP00000108445
Gene: ENSMUSG00000026866
AA Change: Y48*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	ACTGCACCACCT	ACT	10: 43,532,725		probably benign	Het
Alms1	A	G	6: 85,621,098	T1438A	possibly damaging	Het
Als2	T	A	1: 59,211,133	Q484L	probably damaging	Het
Apeh	G	A	9: 108,092,679	H186Y	probably damaging	Het
BC051142	T	A	17: 34,459,961	C216S	possibly damaging	Het
Bcl2l13	T	A	6: 120,862,889	N49K	probably benign	Het
Bptf	T	C	11: 107,073,580	D1596G	probably damaging	Het
Brsk1	T	C	7: 4,706,407	M325T	probably damaging	Het
C87499	T	A	4: 88,627,740	D455V	probably damaging	Het
Caly	T	C	7: 140,070,619	M137V	probably benign	Het
Cdca2	T	C	14: 67,693,666	E526G	possibly damaging	Het
Cnga4	A	G	7: 105,407,745	S352G	possibly damaging	Het
Cntnap5c	A	C	17: 58,092,294	T381P	probably benign	Het
Cr2	T	A	1: 195,151,691	Y633F	probably damaging	Het
Cryba1	T	C	11: 77,719,529	N120S	probably benign	Het
Cyfip2	G	A	11: 46,242,459	R805*	probably null	Het
Dnah7c	C	A	1: 46,657,243	P2095Q	probably damaging	Het
Eif3k	T	C	7: 28,977,226	E110G	possibly damaging	Het
Extl2	A	G	3: 116,027,352	M283V	probably damaging	Het
Extl2	T	A	3: 116,027,353	M283K	probably damaging	Het
Focad	T	C	4: 88,403,386	I1658T	probably benign	Het
Fstl5	A	T	3: 76,322,225	H111L	probably damaging	Het
Garnl3	A	G	2: 33,002,773		probably null	Het
Gm3633	T	A	14: 42,640,622		probably benign	Het
Il4i1	T	A	7: 44,836,539		probably null	Het
Kcnj6	A	T	16: 94,762,677	C321S	probably damaging	Het
Kif20a	A	T	18: 34,628,493	Y313F	probably benign	Het
Kmt2d	T	G	15: 98,857,393		probably benign	Het
Ly9	T	C	1: 171,605,279	I55M	probably damaging	Het
Mgme1	T	C	2: 144,276,519	V237A	probably damaging	Het
Mmp16	T	A	4: 17,853,800	L27H	probably benign	Het
Myh1	A	C	11: 67,224,393	D1918A	probably damaging	Het
Myo5a	G	A	9: 75,140,688	C266Y	probably damaging	Het
Nckap5l	A	G	15: 99,426,468	I718T	probably benign	Het
Nptx1	A	G	11: 119,546,650		probably null	Het
Olfr180	A	G	16: 58,915,988	Y218H	probably damaging	Het
Olfr502	A	G	7: 108,523,170	F260S	probably damaging	Het
Olfr682-ps1	T	A	7: 105,126,618	M228L	probably benign	Het
Phc3	T	A	3: 30,914,531	K783*	probably null	Het
Pkdrej	A	T	15: 85,820,881	C285S	probably damaging	Het
Pot1b	T	A	17: 55,653,474	T619S	possibly damaging	Het
Psg21	A	T	7: 18,652,284	V259E	probably damaging	Het
Pvr	A	C	7: 19,918,630	I120S	probably benign	Het
Rbm17	T	G	2: 11,598,090	I68L	probably benign	Het
Rnf138	C	T	18: 21,002,142	P28L	probably damaging	Het
Rnf207	C	T	4: 152,312,532	C385Y	possibly damaging	Het
Serping1	A	C	2: 84,770,233	V255G	probably benign	Het
Slc25a3	A	T	10: 91,119,705	V91E	probably damaging	Het
Slc26a8	T	C	17: 28,638,481	D896G	probably benign	Het
Slc27a5	T	A	7: 12,997,516	T183S	probably benign	Het
Slc33a1	A	T	3: 63,943,323	F527I	probably benign	Het
Strn4	A	T	7: 16,828,785	D283V	probably damaging	Het
Sult1e1	G	A	5: 87,586,766	T107I	probably damaging	Het
Tango6	G	A	8: 106,742,472		probably null	Het
Tecrl	G	T	5: 83,313,314	P99T	probably damaging	Het
Ticrr	T	C	7: 79,693,957	L1190P	possibly damaging	Het
Timm50	C	T	7: 28,305,945	R349H	probably damaging	Het
Tjp2	A	G	19: 24,101,991	I840T	probably damaging	Het
Tmem173	T	C	18: 35,739,429	H50R	probably damaging	Het
Tmem45a2	T	A	16: 57,047,023	N105I	probably damaging	Het
Zfp148	T	A	16: 33,468,126	C162S	probably damaging	Het
Zfp534	T	C	4: 147,674,481	K577R	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
R0099:Kynu	UTSW	2	43629053	critical splice donor site	probably null
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
R7203:Kynu	UTSW	2	43681353	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACTCTGTAGAAGGCTGATATTC -3'
(R):5'- ACGTAAAGAACACGAGGCTC -3'

Sequencing Primer
(F):5'- TGTAGAAGGCTGATATTCTGCAG -3'
(R):5'- TTGGTAGGGTAGCACCGAG -3'

Posted On

2018-10-18