Mutagenetix > Incidental Mutation

Incidental Mutation 'R5031:Kyat1'

391676

Institutional Source

Beutler Lab

Gene Symbol

Kyat1

Ensembl Gene

ENSMUSG00000039648

Gene Name

kynurenine aminotransferase 1

Synonyms

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

MMRRC Submission

042622-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R5031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30185124-30205847 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30188090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 134 (M134T)

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: M134T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038612
Gene: ENSMUSG00000039648
AA Change: M134T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113659
AA Change: M84T

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109289
Gene: ENSMUSG00000039648
AA Change: M84T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113660
AA Change: M134T

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109290
Gene: ENSMUSG00000039648
AA Change: M134T

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: M134T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109291
Gene: ENSMUSG00000039648
AA Change: M134T

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: M134T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109292
Gene: ENSMUSG00000039648
AA Change: M134T

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: M134T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109293
Gene: ENSMUSG00000039648
AA Change: M134T

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

0.7752

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 89.9%

Validation Efficiency

100% (52/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,664,514	N136S	probably damaging	Het
Abca13	A	T	11: 9,297,678	N2475I	probably damaging	Het
Acnat2	T	C	4: 49,380,631	K231R	probably damaging	Het
Ank1	C	T	8: 23,099,680	P599L	probably damaging	Het
Arhgef19	A	G	4: 141,250,810	E580G	probably damaging	Het
Atr	A	G	9: 95,865,702	K346E	probably damaging	Het
AU021092	T	C	16: 5,212,604	K309E	probably damaging	Het
Baz2b	T	C	2: 59,912,807	R1607G	probably benign	Het
Cct8	C	T	16: 87,487,538	V254M	probably damaging	Het
Cdca2	T	A	14: 67,713,153	I110F	probably damaging	Het
Csmd3	A	T	15: 47,659,192	C2694S	probably damaging	Het
Dmkn	A	G	7: 30,764,236	I105V	probably benign	Het
Dock1	A	G	7: 135,152,246	D1584G	probably benign	Het
Epg5	G	A	18: 78,028,948	V2392I	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gsap	G	A	5: 21,242,826	S294N	possibly damaging	Het
Hectd2	A	G	19: 36,599,604	N142D	probably damaging	Het
Hmcn1	A	G	1: 150,588,257	C5091R	probably damaging	Het
Ifitm5	G	A	7: 140,950,104	R36*	probably null	Het
Ints2	G	A	11: 86,256,200	P40L	probably damaging	Het
Irs1	A	T	1: 82,286,967	L1176*	probably null	Het
Klhl29	C	T	12: 5,091,334	R550Q	probably benign	Het
Lrrk2	A	T	15: 91,700,619	N384Y	possibly damaging	Het
Magel2	T	C	7: 62,380,104	S919P	unknown	Het
Mettl16	A	T	11: 74,802,999	I279F	probably benign	Het
Mrgpra1	A	T	7: 47,335,237	Y231*	probably null	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mut	T	C	17: 40,938,827	F231S	possibly damaging	Het
Mvp	A	C	7: 126,993,616	Y374*	probably null	Het
Nabp2	G	A	10: 128,409,628		probably benign	Het
Nos1	C	T	5: 117,879,313	P247L	probably benign	Het
Olfr1015	T	A	2: 85,785,718	L69*	probably null	Het
Olfr1115	C	A	2: 87,252,082	F48L	probably benign	Het
Pik3cb	C	T	9: 99,071,408	D441N	probably damaging	Het
Qrich1	C	T	9: 108,541,736	P464S	possibly damaging	Het
Rab17	A	T	1: 90,960,138		probably null	Het
Rspo3	A	T	10: 29,506,447	L77H	probably damaging	Het
Spn	G	T	7: 127,137,230	T35K	probably benign	Het
Sult1d1	T	A	5: 87,559,844	Y139F	possibly damaging	Het
Tbc1d32	C	A	10: 56,123,531	Q848H	probably damaging	Het
Tcaf3	A	G	6: 42,596,933	V115A	probably benign	Het
Tram1l1	T	A	3: 124,321,644	L151*	probably null	Het
Trappc12	T	A	12: 28,692,513	I682L	possibly damaging	Het
Trav6d-4	A	C	14: 52,753,599	T31P	probably damaging	Het
Trpm8	A	G	1: 88,348,188	T503A	probably benign	Het
Virma	T	A	4: 11,542,116	Y1567*	probably null	Het
Vmn1r228	T	A	17: 20,776,681	K192*	probably null	Het
Zfp521	T	A	18: 13,844,273	T1028S	possibly damaging	Het
Zfp583	T	A	7: 6,317,398	Q205L	probably benign	Het

Other mutations in Kyat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02059:Kyat1	APN	2	30185553	missense	probably benign	0.00
IGL02216:Kyat1	APN	2	30187252	missense	probably benign	0.44
IGL02864:Kyat1	APN	2	30192077	splice site	probably benign
IGL02975:Kyat1	APN	2	30186675	missense	probably damaging	0.99
R0193:Kyat1	UTSW	2	30187186	critical splice donor site	probably null
R0230:Kyat1	UTSW	2	30194075	missense	probably benign
R0539:Kyat1	UTSW	2	30188217	missense	probably damaging	1.00
R2483:Kyat1	UTSW	2	30186698	missense	possibly damaging	0.71
R3935:Kyat1	UTSW	2	30185749	missense	probably damaging	1.00
R4651:Kyat1	UTSW	2	30194064	missense	probably benign	0.00
R4685:Kyat1	UTSW	2	30188265	missense	probably damaging	1.00
R5699:Kyat1	UTSW	2	30186650	missense	probably benign	0.01
R5722:Kyat1	UTSW	2	30188111	missense	probably damaging	1.00
R7299:Kyat1	UTSW	2	30191995	missense	probably benign	0.02
R8000:Kyat1	UTSW	2	30192053	missense	probably benign
R8231:Kyat1	UTSW	2	30191966	missense	probably benign	0.00
R8687:Kyat1	UTSW	2	30185747	missense	probably benign	0.20
Z1176:Kyat1	UTSW	2	30187732	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCTGCCAATCATTGCTGG -3'
(R):5'- TATGGGGCCTTGTTCACAGC -3'

Sequencing Primer
(F):5'- GGGAGCAGTATTTACTTTCCTGACC -3'
(R):5'- GGCCTTGTTCACAGCCTTTCAG -3'

Posted On

2016-06-06