Mutagenetix > Incidental Mutation

Incidental Mutation 'R0539:Kyat1'

49662

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

038731-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R0539 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30075136-30095859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30078229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 117 (E117K)

Ref Sequence

ENSEMBL: ENSMUSP00000109293 (fasta)

Gene Model

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

AlphaFold

Q8BTY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000044038
AA Change: E117K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038612
Gene: ENSMUSG00000039648
AA Change: E117K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113659

SMART Domains

Protein: ENSMUSP00000109289
Gene: ENSMUSG00000039648

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113660
AA Change: E117K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109290
Gene: ENSMUSG00000039648
AA Change: E117K

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 damaging
Transcript: ENSMUST00000113661
AA Change: E117K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109291
Gene: ENSMUSG00000039648
AA Change: E117K

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 damaging
Transcript: ENSMUST00000113662
AA Change: E117K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109292
Gene: ENSMUSG00000039648
AA Change: E117K

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 damaging
Transcript: ENSMUST00000113663
AA Change: E117K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109293
Gene: ENSMUSG00000039648
AA Change: E117K

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

0.7160

Coding Region Coverage

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

Validation Efficiency

100% (107/107)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,536,692 (GRCm39)	H129Q	probably damaging	Het
Abca14	G	A	7: 119,807,020 (GRCm39)	R22Q	probably damaging	Het
Abcg5	T	A	17: 84,976,503 (GRCm39)	M445L	probably benign	Het
Abhd3	T	A	18: 10,645,208 (GRCm39)	N357I	possibly damaging	Het
Adamts5	C	T	16: 85,665,580 (GRCm39)	G574S	probably damaging	Het
Adgrg5	T	A	8: 95,665,260 (GRCm39)	N389K	probably damaging	Het
Ankk1	A	G	9: 49,329,330 (GRCm39)	V80A	probably benign	Het
Arhgap20	A	G	9: 51,761,455 (GRCm39)	Q1066R	probably benign	Het
Arhgap21	T	A	2: 20,919,610 (GRCm39)	K32*	probably null	Het
AW209491	T	C	13: 14,812,317 (GRCm39)	F390S	probably damaging	Het
Axl	A	T	7: 25,478,142 (GRCm39)		probably benign	Het
Bri3bp	A	G	5: 125,531,603 (GRCm39)	Y183C	probably damaging	Het
Cad	T	C	5: 31,232,801 (GRCm39)		probably benign	Het
Capns2	A	G	8: 93,628,360 (GRCm39)	Q83R	possibly damaging	Het
Ccdc180	G	T	4: 45,922,010 (GRCm39)	R1028L	probably damaging	Het
Cdh19	C	A	1: 110,852,892 (GRCm39)	V348F	possibly damaging	Het
Chrm2	T	C	6: 36,500,641 (GRCm39)	V166A	possibly damaging	Het
Clmp	A	G	9: 40,693,782 (GRCm39)	Y333C	probably benign	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Copz1	A	G	15: 103,199,792 (GRCm39)	Y69C	probably damaging	Het
Crybg1	T	C	10: 43,874,894 (GRCm39)	D738G	probably benign	Het
Ctnna2	T	A	6: 76,950,882 (GRCm39)	I165F	probably damaging	Het
Dcaf7	T	G	11: 105,942,652 (GRCm39)	S200A	probably damaging	Het
Deup1	T	A	9: 15,493,893 (GRCm39)	R416S	possibly damaging	Het
Dmxl1	T	A	18: 49,990,497 (GRCm39)		probably benign	Het
Dnaaf11	A	T	15: 66,319,455 (GRCm39)	V305D	probably damaging	Het
Dnase2b	A	T	3: 146,294,910 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,383,287 (GRCm39)	Y931C	probably damaging	Het
Fam83h	T	C	15: 75,875,076 (GRCm39)	S754G	possibly damaging	Het
Fibp	T	A	19: 5,513,216 (GRCm39)	V177D	probably damaging	Het
Gfpt2	T	C	11: 49,723,725 (GRCm39)	I571T	probably damaging	Het
Grm7	T	G	6: 111,336,055 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,526,745 (GRCm39)	Y335C	probably damaging	Het
H2-T23	A	T	17: 36,343,033 (GRCm39)		probably benign	Het
H4c3	A	G	13: 23,882,131 (GRCm39)	F101S	probably damaging	Het
Hydin	A	G	8: 111,249,704 (GRCm39)	I2216V	probably benign	Het
Ipo8	A	G	6: 148,719,606 (GRCm39)	M113T	probably benign	Het
Kdm6a	A	G	X: 18,128,664 (GRCm39)	E1045G	probably damaging	Het
Lin7b	A	G	7: 45,019,326 (GRCm39)		probably benign	Het
Lipn	G	A	19: 34,062,003 (GRCm39)		probably benign	Het
Lrfn2	C	A	17: 49,378,072 (GRCm39)	N384K	probably damaging	Het
Map1b	T	C	13: 99,570,526 (GRCm39)	K732E	unknown	Het
Mpl	A	G	4: 118,300,705 (GRCm39)	M541T	possibly damaging	Het
Mprip	T	C	11: 59,631,943 (GRCm39)		probably benign	Het
Mrc1	T	C	2: 14,274,937 (GRCm39)		probably benign	Het
Ms4a13	T	C	19: 11,149,235 (GRCm39)		probably benign	Het
Myo18b	G	T	5: 112,871,734 (GRCm39)	R2116S	probably damaging	Het
Nav2	A	G	7: 49,111,686 (GRCm39)	T731A	probably damaging	Het
Ncoa6	G	T	2: 155,257,617 (GRCm39)	A642D	probably benign	Het
Ndufs7	T	A	10: 80,090,665 (GRCm39)		probably benign	Het
Nfkbiz	G	A	16: 55,638,242 (GRCm39)	T406M	probably benign	Het
Nr4a1	A	G	15: 101,168,765 (GRCm39)	E267G	probably damaging	Het
Nrxn2	T	G	19: 6,543,434 (GRCm39)	F1103V	probably damaging	Het
Or10ab4	C	T	7: 107,655,029 (GRCm39)	T280I	probably damaging	Het
Or10d3	A	T	9: 39,461,593 (GRCm39)	D191E	probably damaging	Het
Or1e22	T	C	11: 73,376,889 (GRCm39)	T254A	probably benign	Het
Or5a3	C	T	19: 12,400,173 (GRCm39)	L167F	probably damaging	Het
Or5g27	T	A	2: 85,410,119 (GRCm39)	C179S	probably damaging	Het
Or5m11	G	T	2: 85,782,353 (GRCm39)	M315I	probably benign	Het
Or8u9	A	T	2: 86,001,387 (GRCm39)	M258K	probably damaging	Het
Phf1	A	G	17: 27,153,432 (GRCm39)		probably null	Het
Pip	C	T	6: 41,826,819 (GRCm39)	Q53*	probably null	Het
Ppp2ca	T	C	11: 52,008,989 (GRCm39)		probably null	Het
Prl2c5	A	G	13: 13,363,906 (GRCm39)		probably null	Het
Psph	T	A	5: 129,843,641 (GRCm39)		probably benign	Het
Ptch1	C	T	13: 63,691,294 (GRCm39)		probably benign	Het
Ptprs	C	T	17: 56,765,255 (GRCm39)	V10M	probably damaging	Het
Rarg	T	C	15: 102,147,312 (GRCm39)	R358G	probably damaging	Het
Rbl2	T	C	8: 91,839,133 (GRCm39)		probably benign	Het
Robo2	A	T	16: 73,782,462 (GRCm39)		probably benign	Het
Scin	A	T	12: 40,131,765 (GRCm39)	D256E	possibly damaging	Het
Scn8a	T	C	15: 100,914,449 (GRCm39)	Y1152H	probably damaging	Het
Sh2b2	T	G	5: 136,254,155 (GRCm39)		probably benign	Het
Slc13a2	G	A	11: 78,289,964 (GRCm39)	P450L	probably damaging	Het
Slc2a12	A	G	10: 22,568,129 (GRCm39)	I519V	probably benign	Het
Slc30a9	C	T	5: 67,491,953 (GRCm39)	T260M	probably damaging	Het
Slc9a7	A	T	X: 20,069,001 (GRCm39)	F184Y	probably damaging	Het
Smc2	G	T	4: 52,458,558 (GRCm39)	K466N	probably benign	Het
Snx16	T	C	3: 10,491,278 (GRCm39)	E209G	probably damaging	Het
Sp3	A	T	2: 72,800,876 (GRCm39)	I423N	possibly damaging	Het
Ssh2	G	T	11: 77,345,620 (GRCm39)	V1202F	probably benign	Het
Stam2	A	T	2: 52,593,268 (GRCm39)		probably benign	Het
Stox2	T	C	8: 47,647,070 (GRCm39)	Y194C	probably damaging	Het
Sult3a1	A	G	10: 33,742,519 (GRCm39)	T49A	probably damaging	Het
Supt3	A	T	17: 45,314,018 (GRCm39)	I136F	possibly damaging	Het
Syne2	A	T	12: 76,070,895 (GRCm39)	R103S	possibly damaging	Het
Synj2	T	A	17: 6,047,163 (GRCm39)	M1K	probably null	Het
Tas2r110	T	C	6: 132,845,334 (GRCm39)	S122P	possibly damaging	Het
Tln1	A	G	4: 43,543,434 (GRCm39)		probably null	Het
Tmem117	A	G	15: 94,612,793 (GRCm39)	T110A	possibly damaging	Het
Tmem247	A	G	17: 87,224,906 (GRCm39)	D5G	probably benign	Het
Tmem39a	T	A	16: 38,411,337 (GRCm39)	F363I	probably benign	Het
Tmem80	G	A	7: 140,915,808 (GRCm39)	A73T	possibly damaging	Het
Trpm4	C	T	7: 44,954,896 (GRCm39)	G901S	probably damaging	Het
Upk3bl	T	C	5: 136,092,840 (GRCm39)		probably benign	Het
Vmn1r120	A	T	7: 20,787,397 (GRCm39)	C105S	probably damaging	Het
Vmn1r69	A	T	7: 10,314,874 (GRCm39)		probably benign	Het
Vmn2r95	T	C	17: 18,672,362 (GRCm39)	F700L	probably damaging	Het
Wdr70	G	A	15: 7,915,118 (GRCm39)	T550M	possibly damaging	Het
Zbtb22	A	G	17: 34,137,118 (GRCm39)	D421G	possibly damaging	Het
Zbtb45	G	A	7: 12,740,260 (GRCm39)	R452C	probably damaging	Het
Zfhx3	T	C	8: 109,527,141 (GRCm39)	Y1013H	probably damaging	Het
Zfp329	C	T	7: 12,540,520 (GRCm39)		probably null	Het
Zfp532	T	A	18: 65,756,837 (GRCm39)	S257T	probably benign	Het
Zfp933	G	A	4: 147,911,005 (GRCm39)	T197I	probably benign	Het
Zgrf1	T	A	3: 127,408,841 (GRCm39)	N1649K	probably damaging	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
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'- GAAACCTTACCAGCCTTGGCCTAC -3'
(R):5'- GAGACAGACACAATGTCAGCTTCCC -3'

Sequencing Primer
(F):5'- GCCTTGGCCTACCCATAAC -3'
(R):5'- AAGGAAGCTGACTTCTGCCTG -3'

Posted On

2013-06-12