Mutagenetix > Incidental Mutation

Incidental Mutation 'R0230:Kyat1'

34025

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

038473-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

R0230 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30075136-30095859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30084087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 11 (E11G)

Ref Sequence

ENSEMBL: ENSMUSP00000109293 (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: E11G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038612
Gene: ENSMUSG00000039648
AA Change: E11G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113659
AA Change: E11G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109289
Gene: ENSMUSG00000039648
AA Change: E11G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113660
AA Change: E11G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109290
Gene: ENSMUSG00000039648
AA Change: E11G

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: E11G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109291
Gene: ENSMUSG00000039648
AA Change: E11G

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: E11G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109292
Gene: ENSMUSG00000039648
AA Change: E11G

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: E11G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109293
Gene: ENSMUSG00000039648
AA Change: E11G

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

noncoding transcript
Transcript: ENSMUST00000148555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149522

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

100% (83/83)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amy1	T	C	3: 113,352,079 (GRCm39)	D371G	probably benign	Het
Asrgl1	T	A	19: 9,095,883 (GRCm39)		probably benign	Het
Asxl3	T	A	18: 22,585,383 (GRCm39)		probably benign	Het
B3galnt1	T	C	3: 69,482,673 (GRCm39)	N196S	possibly damaging	Het
Bbof1	A	G	12: 84,471,978 (GRCm39)	H74R	probably damaging	Het
Bpifb9b	C	T	2: 154,158,995 (GRCm39)	T504M	probably damaging	Het
Cdk12	T	G	11: 98,094,817 (GRCm39)	S208R	probably damaging	Het
Cdk5r1	T	C	11: 80,368,576 (GRCm39)	L81P	probably damaging	Het
Chrd	T	C	16: 20,552,025 (GRCm39)	L43P	probably benign	Het
Col6a4	A	C	9: 105,949,565 (GRCm39)	M690R	probably benign	Het
Cyp39a1	A	T	17: 44,042,903 (GRCm39)	R418W	probably damaging	Het
Dars2	C	T	1: 160,890,357 (GRCm39)	V162M	probably benign	Het
Dixdc1	C	T	9: 50,606,807 (GRCm39)	V270M	possibly damaging	Het
Dnah11	C	A	12: 117,946,791 (GRCm39)	E1194*	probably null	Het
Dnah7b	T	C	1: 46,258,508 (GRCm39)	S1900P	probably damaging	Het
Dnah9	C	T	11: 65,746,141 (GRCm39)	E3991K	probably damaging	Het
Dsp	A	T	13: 38,381,681 (GRCm39)	I2210F	probably benign	Het
Ebf1	A	G	11: 44,886,949 (GRCm39)	S556G	probably damaging	Het
Enam	G	A	5: 88,637,514 (GRCm39)		probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Epc1	T	C	18: 6,440,168 (GRCm39)	D579G	probably damaging	Het
Ephb3	A	T	16: 21,039,525 (GRCm39)	I426F	probably damaging	Het
Fam135b	T	G	15: 71,317,886 (GRCm39)	I1359L	probably benign	Het
Fcgbpl1	T	A	7: 27,856,250 (GRCm39)	H2012Q	probably damaging	Het
Gm16519	T	C	17: 71,236,128 (GRCm39)	S26P	probably benign	Het
Gm17622	T	A	13: 96,627,594 (GRCm39)		probably null	Het
Gpat2	G	A	2: 127,277,765 (GRCm39)	V764I	possibly damaging	Het
Gpx4	G	A	10: 79,890,838 (GRCm39)	A81T	probably benign	Het
Gss	C	A	2: 155,420,326 (GRCm39)	R83L	probably damaging	Het
Hcls1	C	A	16: 36,758,216 (GRCm39)	Q36K	probably damaging	Het
Hepacam2	A	G	6: 3,463,336 (GRCm39)	V438A	probably benign	Het
Hnf4a	T	C	2: 163,401,005 (GRCm39)	F184S	probably damaging	Het
Katnal1	T	A	5: 148,855,460 (GRCm39)	D90V	possibly damaging	Het
Kcnt2	A	G	1: 140,174,083 (GRCm39)	D30G	probably benign	Het
Lefty1	T	A	1: 180,764,579 (GRCm39)	V168E	probably damaging	Het
Map2k6	C	T	11: 110,387,281 (GRCm39)	P218S	probably damaging	Het
Mlkl	C	G	8: 112,041,694 (GRCm39)	K415N	probably benign	Het
Myh7	A	T	14: 55,211,390 (GRCm39)	M1593K	probably benign	Het
Myo19	T	A	11: 84,784,159 (GRCm39)	C186S	possibly damaging	Het
Ngp	T	C	9: 110,249,069 (GRCm39)	L47P	probably damaging	Het
Nkiras1	A	G	14: 18,280,185 (GRCm38)	N192S	probably benign	Het
Or1j17	G	A	2: 36,578,628 (GRCm39)	V205M	probably benign	Het
Or2n1	A	G	17: 38,486,841 (GRCm39)	I289V	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or8u9	T	C	2: 86,001,886 (GRCm39)	I92V	probably benign	Het
Pdcd6ip	A	G	9: 113,514,361 (GRCm39)		probably benign	Het
Pde4b	T	C	4: 102,454,707 (GRCm39)	Y186H	probably benign	Het
Pex7	A	G	10: 19,780,331 (GRCm39)	V101A	possibly damaging	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Plxnc1	A	G	10: 94,635,209 (GRCm39)	V1339A	probably benign	Het
Proser1	A	G	3: 53,386,383 (GRCm39)	N755S	probably damaging	Het
Ptpn13	A	G	5: 103,674,997 (GRCm39)	D658G	probably damaging	Het
Rassf8	A	C	6: 145,765,700 (GRCm39)		probably benign	Het
Rfc4	G	A	16: 22,932,849 (GRCm39)	Q363*	probably null	Het
Rxfp1	T	C	3: 79,552,282 (GRCm39)	N673S	probably damaging	Het
Scn7a	T	C	2: 66,556,628 (GRCm39)	E319G	probably damaging	Het
Scnn1g	A	G	7: 121,345,984 (GRCm39)		probably benign	Het
Scube2	C	T	7: 109,423,971 (GRCm39)		probably null	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc6a13	A	G	6: 121,301,262 (GRCm39)	N184D	probably benign	Het
Slco1a5	T	A	6: 142,182,054 (GRCm39)		probably benign	Het
Slf1	T	A	13: 77,260,867 (GRCm39)		probably benign	Het
Smarca4	G	A	9: 21,612,168 (GRCm39)	V1518I	probably damaging	Het
Smyd3	A	G	1: 179,250,993 (GRCm39)		probably benign	Het
Sox5	A	G	6: 144,155,064 (GRCm39)	F11L	probably benign	Het
Spag17	T	C	3: 100,014,143 (GRCm39)	S2139P	probably benign	Het
Spice1	A	T	16: 44,185,939 (GRCm39)		probably benign	Het
Sptan1	T	A	2: 29,900,704 (GRCm39)		probably benign	Het
Srebf2	T	A	15: 82,066,286 (GRCm39)	N571K	probably damaging	Het
Tbl3	A	G	17: 24,920,307 (GRCm39)	L670P	probably damaging	Het
Tmem45a2	A	G	16: 56,867,359 (GRCm39)	V114A	possibly damaging	Het
Tmigd3	A	G	3: 105,826,053 (GRCm39)	N132D	possibly damaging	Het
Ttn	T	C	2: 76,567,778 (GRCm39)	D19378G	probably damaging	Het
Ugcg	C	A	4: 59,189,739 (GRCm39)	Y32*	probably null	Het
Ush2a	C	T	1: 188,582,301 (GRCm39)	P3788L	probably damaging	Het
Usp22	T	A	11: 61,050,023 (GRCm39)		probably benign	Het
Xaf1	T	C	11: 72,197,381 (GRCm39)		probably benign	Het
Zbtb41	C	T	1: 139,374,673 (GRCm39)	T711I	probably damaging	Het
Zfp457	T	C	13: 67,442,180 (GRCm39)	T132A	possibly damaging	Het
Zfp64	T	G	2: 168,754,150 (GRCm39)		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
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
R7299:Kyat1	UTSW	2	30,082,007 (GRCm39)	missense	probably benign	0.02
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'- TGGGAGTCATTGCCAGTCCACAAG -3'
(R):5'- TGGGTCTCCACCCATTTCAAAAGTC -3'

Sequencing Primer
(F):5'- GGAGAGAAAACCATTTCCAGTTTG -3'
(R):5'- CCCATTTCAAAAGTCAGAGGGTG -3'

Posted On

2013-05-09