Mutagenetix > Incidental Mutation

Incidental Mutation 'R7299:Kyat1'

566835

Institutional Source

Beutler Lab

Gene Symbol

Kyat1

Ensembl Gene

ENSMUSG00000039648

Gene Name

kynurenine aminotransferase 1

Synonyms

Ccbl1, 2010009K05Rik, KATI, Kat1, cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)

MMRRC Submission

045403-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R7299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30075136-30095859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30082007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 44 (D44G)

Ref Sequence

ENSEMBL: ENSMUSP00000038612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044038] [ENSMUST00000113659] [ENSMUST00000113660] [ENSMUST00000113661] [ENSMUST00000113662] [ENSMUST00000113663]

AlphaFold

Q8BTY1

Predicted Effect

probably benign
Transcript: ENSMUST00000044038
AA Change: D44G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000038612
Gene: ENSMUSG00000039648
AA Change: D44G

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	28	415	1.1e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113659
AA Change: D44G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109289
Gene: ENSMUSG00000039648
AA Change: D44G

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	53	365	1.5e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113660
AA Change: D44G

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109290
Gene: ENSMUSG00000039648
AA Change: D44G

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	28	145	1.7e-12	PFAM
Pfam:Aminotran_1_2	146	372	1e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113661
AA Change: D44G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109291
Gene: ENSMUSG00000039648
AA Change: D44G

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	28	415	1.1e-56	PFAM
Pfam:DegT_DnrJ_EryC1	80	214	3.7e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113662
AA Change: D44G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109292
Gene: ENSMUSG00000039648
AA Change: D44G

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	28	415	1.1e-56	PFAM
Pfam:DegT_DnrJ_EryC1	80	214	3.7e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113663
AA Change: D44G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109293
Gene: ENSMUSG00000039648
AA Change: D44G

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	28	415	1.1e-56	PFAM
Pfam:DegT_DnrJ_EryC1	80	214	3.7e-6	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,095 (GRCm39)	K83N	unknown	Het
Abca13	A	T	11: 9,244,649 (GRCm39)	N2171Y	probably damaging	Het
Abcc8	G	A	7: 45,754,922 (GRCm39)	T1532I	possibly damaging	Het
Abtb2	A	T	2: 103,532,769 (GRCm39)		probably null	Het
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Agk	A	T	6: 40,306,451 (GRCm39)	T7S	possibly damaging	Het
Akap9	C	A	5: 4,082,696 (GRCm39)	T1940K	probably damaging	Het
Ccdc8	A	G	7: 16,729,956 (GRCm39)	T482A	unknown	Het
Cd2ap	G	A	17: 43,140,904 (GRCm39)	R212*	probably null	Het
Cenpt	G	A	8: 106,576,536 (GRCm39)	Q45*	probably null	Het
Cnga1	T	C	5: 72,762,775 (GRCm39)	I246M	probably benign	Het
Cnot7	A	G	8: 40,960,586 (GRCm39)	I74T	probably damaging	Het
Cog6	T	C	3: 52,909,928 (GRCm39)	S275G	probably benign	Het
Csmd2	C	A	4: 128,422,055 (GRCm39)	D2797E		Het
Ddx24	A	G	12: 103,385,709 (GRCm39)	M298T	possibly damaging	Het
Eif2b3	T	A	4: 116,910,019 (GRCm39)	S185T	probably benign	Het
Ergic2	T	A	6: 148,089,610 (GRCm39)	Y249F	probably damaging	Het
Exoc1	T	A	5: 76,690,006 (GRCm39)	M182K	probably damaging	Het
Fhdc1	T	C	3: 84,351,847 (GRCm39)	E1126G	probably damaging	Het
Gabrr2	T	A	4: 33,095,284 (GRCm39)	M391K	probably benign	Het
Gap43	T	C	16: 42,112,615 (GRCm39)	K49E	probably damaging	Het
Gata4	T	A	14: 63,441,191 (GRCm39)	T276S	probably damaging	Het
Gca	C	T	2: 62,520,320 (GRCm39)	P160L	probably benign	Het
Ghdc	C	T	11: 100,658,942 (GRCm39)	V397I	possibly damaging	Het
Gm3409	T	A	5: 146,476,357 (GRCm39)	D169E	probably benign	Het
Gtf3c3	G	A	1: 54,456,867 (GRCm39)	P511L	probably benign	Het
Hal	T	C	10: 93,328,423 (GRCm39)	V233A	probably benign	Het
Ighv1-4	T	C	12: 114,450,908 (GRCm39)	I67V	probably benign	Het
Itgb8	T	C	12: 119,166,196 (GRCm39)	N112D	probably benign	Het
Klhl38	G	A	15: 58,186,376 (GRCm39)	R118W	probably damaging	Het
Krtap26-1	T	C	16: 88,444,132 (GRCm39)	Y163C	possibly damaging	Het
Mob1a	G	A	6: 83,315,431 (GRCm39)		probably null	Het
Mst1r	G	T	9: 107,791,989 (GRCm39)	A842S	possibly damaging	Het
Nhsl1	A	G	10: 18,403,419 (GRCm39)		probably null	Het
Nos1	A	T	5: 118,005,970 (GRCm39)	D230V	possibly damaging	Het
Nppb	T	C	4: 148,070,780 (GRCm39)	S52P	probably benign	Het
Odad2	T	C	18: 7,222,635 (GRCm39)	K545E	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or1s2	G	A	19: 13,758,688 (GRCm39)	W235*	probably null	Het
Pcdha3	G	A	18: 37,079,977 (GRCm39)	E240K	possibly damaging	Het
Podxl	G	T	6: 31,501,371 (GRCm39)	P395T	probably damaging	Het
Prr5l	T	A	2: 101,547,631 (GRCm39)	D298V	probably damaging	Het
Ptpro	G	A	6: 137,418,142 (GRCm39)		probably null	Het
Rad9b	A	G	5: 122,490,677 (GRCm39)	V13A	possibly damaging	Het
Ralgps1	T	C	2: 33,047,885 (GRCm39)	K365R	probably benign	Het
Reep1	A	T	6: 71,738,373 (GRCm39)	I44L	probably benign	Het
Ripor2	T	C	13: 24,908,984 (GRCm39)	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,812,016 (GRCm39)	Y338H	probably damaging	Het
Shisa5	G	T	9: 108,883,952 (GRCm39)		probably benign	Het
Snx24	G	T	18: 53,473,244 (GRCm39)	V63F	probably damaging	Het
Svep1	G	A	4: 58,046,587 (GRCm39)	Q3515*	probably null	Het
Tfap2a	T	C	13: 40,874,784 (GRCm39)	K276E	probably damaging	Het
Tmem158	C	A	9: 123,089,366 (GRCm39)	S82I	probably damaging	Het
Tmem263	T	A	10: 84,950,261 (GRCm39)		probably null	Het
Tmtc3	G	T	10: 100,283,336 (GRCm39)	H740N	not run	Het
Tnrc6a	A	C	7: 122,770,136 (GRCm39)	N642T	probably benign	Het
Top3a	A	T	11: 60,638,974 (GRCm39)	F559I	probably damaging	Het
Trak1	A	G	9: 121,280,929 (GRCm39)		probably null	Het
Trpc4	T	C	3: 54,225,048 (GRCm39)	I799T	possibly damaging	Het
Ttc7	T	C	17: 87,653,970 (GRCm39)	I549T	possibly damaging	Het
Tysnd1	C	A	10: 61,532,328 (GRCm39)	P327T	possibly damaging	Het
Ulk4	T	A	9: 120,974,125 (GRCm39)	D969V	probably benign	Het
Vcan	T	A	13: 89,853,385 (GRCm39)	Y525F	probably benign	Het
Vmn1r204	G	A	13: 22,740,975 (GRCm39)	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,565,878 (GRCm39)	I64M	probably benign	Het
Wrn	A	G	8: 33,782,746 (GRCm39)	F728S	probably damaging	Het
Zfp280b	C	G	10: 75,874,537 (GRCm39)	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,541,313 (GRCm39)	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,541,314 (GRCm39)	G143S	probably benign	Het
Zfp418	T	A	7: 7,185,827 (GRCm39)	C597S	possibly damaging	Het
Zfp568	A	G	7: 29,716,669 (GRCm39)	T190A	probably benign	Het
Zfyve26	A	T	12: 79,329,758 (GRCm39)	V476D	probably benign	Het

Other mutations in Kyat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02059:Kyat1	APN	2	30,075,565 (GRCm39)	missense	probably benign	0.00
IGL02216:Kyat1	APN	2	30,077,264 (GRCm39)	missense	probably benign	0.44
IGL02864:Kyat1	APN	2	30,082,089 (GRCm39)	splice site	probably benign
IGL02975:Kyat1	APN	2	30,076,687 (GRCm39)	missense	probably damaging	0.99
R0193:Kyat1	UTSW	2	30,077,198 (GRCm39)	critical splice donor site	probably null
R0230:Kyat1	UTSW	2	30,084,087 (GRCm39)	missense	probably benign
R0539:Kyat1	UTSW	2	30,078,229 (GRCm39)	missense	probably damaging	1.00
R2483:Kyat1	UTSW	2	30,076,710 (GRCm39)	missense	possibly damaging	0.71
R3935:Kyat1	UTSW	2	30,075,761 (GRCm39)	missense	probably damaging	1.00
R4651:Kyat1	UTSW	2	30,084,076 (GRCm39)	missense	probably benign	0.00
R4685:Kyat1	UTSW	2	30,078,277 (GRCm39)	missense	probably damaging	1.00
R5031:Kyat1	UTSW	2	30,078,102 (GRCm39)	missense	probably damaging	1.00
R5699:Kyat1	UTSW	2	30,076,662 (GRCm39)	missense	probably benign	0.01
R5722:Kyat1	UTSW	2	30,078,123 (GRCm39)	missense	probably damaging	1.00
R8000:Kyat1	UTSW	2	30,082,065 (GRCm39)	missense	probably benign
R8231:Kyat1	UTSW	2	30,081,978 (GRCm39)	missense	probably benign	0.00
R8687:Kyat1	UTSW	2	30,075,759 (GRCm39)	missense	probably benign	0.20
Z1176:Kyat1	UTSW	2	30,077,744 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTGGATCAGAAGGTTCC -3'
(R):5'- AAATTGCCCCATGTATGTTCAC -3'

Sequencing Primer
(F):5'- CCTGGATCAGAAGGTTCCTGATC -3'
(R):5'- ATGTATGTTCACTCTGACCCACAG -3'

Posted On

2019-06-26