Mutagenetix > Incidental Mutations

Incidental Mutation 'R2051:Aadat'

226433

Institutional Source

Beutler Lab

Gene Symbol

Aadat

Ensembl Gene

ENSMUSG00000057228

Gene Name

aminoadipate aminotransferase

Synonyms

KATII, Kat2, mKat-2

MMRRC Submission

040058-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2051 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60505932-60545677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60507139 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 40 (S40T)

Ref Sequence

ENSEMBL: ENSMUSP00000078436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079472] [ENSMUST00000093494] [ENSMUST00000209338]

Predicted Effect

probably benign
Transcript: ENSMUST00000079472
AA Change: S40T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: S40T

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	64	417	2.6e-22	PFAM
Pfam:Aminotran_MocR	124	424	7.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093494

Predicted Effect

probably benign
Transcript: ENSMUST00000209338
AA Change: S47T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211032

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous null mice are viable and display earlier eye opening and development of air righting and open field crossing responses, and transient hyperactivity and neuronal abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,564,185	T98M	probably damaging	Het
4932414N04Rik	G	T	2: 68,711,048	K10N	possibly damaging	Het
Abca13	A	G	11: 9,328,098	I3093V	probably benign	Het
Acacb	A	T	5: 114,245,890	Q2160L	probably damaging	Het
Acp6	G	T	3: 97,168,017	S189I	probably benign	Het
Actr5	A	T	2: 158,632,293	M339L	probably benign	Het
Adcy1	A	T	11: 7,161,885	K917*	probably null	Het
Adgrg5	C	T	8: 94,942,067	R504C	probably benign	Het
Ago1	T	C	4: 126,460,453	H188R	probably benign	Het
Akap9	T	A	5: 3,975,685	C23*	probably null	Het
Ank3	T	C	10: 69,898,090	I728T	probably damaging	Het
Ankrd50	A	G	3: 38,454,493	S1242P	probably benign	Het
Arhgap29	G	A	3: 121,981,860	R84H	probably benign	Het
Arhgef10	A	G	8: 14,945,320	D7G	probably null	Het
Arid4b	A	G	13: 14,187,645	E898G	probably damaging	Het
Atrnl1	A	G	19: 57,691,849	N727S	probably benign	Het
Baalc	G	T	15: 38,933,234		probably benign	Het
Cdc25c	G	C	18: 34,738,239	L275V	probably damaging	Het
Chpf2	G	T	5: 24,591,276	V407L	probably benign	Het
Chrnb3	C	A	8: 27,386,811	N84K	probably damaging	Het
Cnot1	A	G	8: 95,724,593	F2171L	possibly damaging	Het
Csmd3	C	T	15: 48,621,993		probably null	Het
Cux1	T	A	5: 136,332,658	Q138L	probably damaging	Het
Cyp2c65	A	G	19: 39,082,231	N286S	probably benign	Het
Dclre1b	T	C	3: 103,809,040	S17G	possibly damaging	Het
Dlgap5	A	G	14: 47,411,484	S221P	probably benign	Het
Dnah1	T	G	14: 31,279,123	T2422P	probably damaging	Het
Enpp1	A	G	10: 24,711,804		probably null	Het
Erbb2	T	C	11: 98,420,172	C53R	probably damaging	Het
Exoc8	A	G	8: 124,895,480	V716A	probably benign	Het
Fam193a	T	A	5: 34,462,150	D766E	probably benign	Het
Fbxo43	C	A	15: 36,162,132	G310W	probably damaging	Het
Fcgbp	C	T	7: 28,120,360	T2504I	probably damaging	Het
Fnbp4	C	T	2: 90,757,532	P418L	probably benign	Het
Gjd2	T	C	2: 114,011,058	T313A	probably damaging	Het
Gm12695	T	A	4: 96,769,771	R54W	probably damaging	Het
Gm128	T	C	3: 95,240,740	D81G	possibly damaging	Het
Gm21834	A	G	17: 57,741,768	V151A	possibly damaging	Het
Grhl1	T	A	12: 24,586,152		probably null	Het
Hcn1	C	T	13: 117,976,083	T861I	probably damaging	Het
Herc6	C	A	6: 57,625,976	Q547K	probably benign	Het
Iqgap3	T	C	3: 88,120,167	L699P	probably damaging	Het
Kank4	T	C	4: 98,780,102	D36G	probably damaging	Het
Kcnk5	A	T	14: 20,142,209	S295T	probably damaging	Het
Krt18	T	C	15: 102,029,500	V144A	probably benign	Het
Krtap9-5	A	G	11: 99,949,204	I244V	unknown	Het
Leng1	T	G	7: 3,665,401	N16T	probably damaging	Het
Lss	A	G	10: 76,531,878	K15E	possibly damaging	Het
Mastl	G	T	2: 23,132,824	A629E	possibly damaging	Het
Mavs	G	C	2: 131,240,450	A85P	possibly damaging	Het
Nav3	T	C	10: 109,824,675	D678G	probably damaging	Het
Nsd3	T	G	8: 25,691,089	S906A	probably damaging	Het
Nsfl1c	A	G	2: 151,503,082	N118S	probably damaging	Het
Nup205	T	A	6: 35,230,516	M1501K	probably benign	Het
Olfr1178	C	T	2: 88,391,538	T97M	possibly damaging	Het
Olfr429	T	A	1: 174,089,219	Y60N	possibly damaging	Het
Pax8	A	G	2: 24,436,508	S281P	probably benign	Het
Pds5b	T	G	5: 150,748,190	I433R	probably damaging	Het
Peg3	T	C	7: 6,712,721	N117D	probably damaging	Het
Pfkm	A	T	15: 98,131,692	D728V	probably benign	Het
Phkb	T	C	8: 86,049,821		probably null	Het
Pkp4	T	C	2: 59,334,904	V704A	probably benign	Het
Ppfia2	T	A	10: 106,837,299	S501T	probably damaging	Het
Ptpru	T	C	4: 131,819,087	E284G	possibly damaging	Het
Ror1	C	T	4: 100,407,868	R180*	probably null	Het
Ryr3	T	A	2: 112,756,641	Y2666F	probably damaging	Het
Sec23a	C	A	12: 58,990,968		probably null	Het
Sertad3	C	T	7: 27,476,269	Q43*	probably null	Het
Setd2	C	T	9: 110,550,890	H1258Y	probably benign	Het
Sharpin	A	G	15: 76,348,207	S177P	probably benign	Het
Skap1	T	C	11: 96,541,463	F86S	possibly damaging	Het
Slc8a2	T	C	7: 16,141,015	I396T	probably damaging	Het
Slc9a2	T	C	1: 40,726,437	F329S	probably damaging	Het
Slx4ip	C	T	2: 137,066,205	L161F	possibly damaging	Het
Sox4	A	G	13: 28,952,781	S81P	probably damaging	Het
Ssc4d	G	T	5: 135,970,264	S28R	probably benign	Het
St8sia2	C	T	7: 73,943,202	G369S	possibly damaging	Het
Swt1	T	C	1: 151,372,330	Y836C	probably damaging	Het
Taar7d	A	G	10: 24,028,006	D262G	probably benign	Het
Taar8b	T	A	10: 24,091,314	L327F	probably benign	Het
Tars	A	T	15: 11,393,194	L138*	probably null	Het
Tbcd	A	T	11: 121,453,670	D75V	probably damaging	Het
Tesc	A	G	5: 118,046,329	I25V	probably damaging	Het
Tmem132e	G	T	11: 82,440,438	S407I	probably damaging	Het
Tmem50b	C	A	16: 91,580,292	A95S	possibly damaging	Het
Tnr	T	C	1: 159,892,033	I960T	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tpcn1	G	C	5: 120,543,388	P532A	probably damaging	Het
Tpsb2	T	C	17: 25,366,565		probably benign	Het
Triobp	C	A	15: 79,004,540	H1948Q	probably damaging	Het
Tshb	T	C	3: 102,777,541	I116V	probably benign	Het
Ttc13	A	T	8: 124,672,211		probably null	Het
Usp34	A	T	11: 23,464,468	T2804S	probably damaging	Het
Vmn2r18	A	T	5: 151,562,551	C493S	possibly damaging	Het
Vmn2r2	T	C	3: 64,117,345	K605R	possibly damaging	Het
Vmn2r37	T	C	7: 9,217,793	Y357C	probably damaging	Het
Zc3h6	T	G	2: 129,015,618	S686A	possibly damaging	Het
Zfp608	G	A	18: 54,988,314	P67L	probably benign	Het
Zyg11a	T	C	4: 108,192,047		probably benign	Het

Other mutations in Aadat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Aadat	APN	8	60535758	missense	probably benign	0.11
IGL01123:Aadat	APN	8	60526614	missense	probably benign	0.14
IGL01524:Aadat	APN	8	60516072	missense	probably damaging	0.97
IGL01767:Aadat	APN	8	60507092	missense	probably damaging	0.96
IGL02824:Aadat	APN	8	60516022	missense	probably benign	0.01
IGL03150:Aadat	APN	8	60543562	missense	probably damaging	0.97
IGL03356:Aadat	APN	8	60531691	missense	probably damaging	1.00
R0015:Aadat	UTSW	8	60534571	splice site	probably benign
R0294:Aadat	UTSW	8	60534608	missense	possibly damaging	0.77
R0533:Aadat	UTSW	8	60531763	splice site	probably benign
R0631:Aadat	UTSW	8	60529445	splice site	probably benign
R1585:Aadat	UTSW	8	60526680	missense	possibly damaging	0.67
R1728:Aadat	UTSW	8	60526712	missense	probably damaging	1.00
R1729:Aadat	UTSW	8	60526712	missense	probably damaging	1.00
R2362:Aadat	UTSW	8	60532298	splice site	probably benign
R3971:Aadat	UTSW	8	60518581	missense	probably damaging	1.00
R4126:Aadat	UTSW	8	60531669	missense	probably benign	0.00
R4736:Aadat	UTSW	8	60540106	missense	probably benign	0.30
R4739:Aadat	UTSW	8	60540106	missense	probably benign	0.30
R4750:Aadat	UTSW	8	60526600	missense	probably benign	0.10
R4874:Aadat	UTSW	8	60516113	critical splice donor site	probably null
R4884:Aadat	UTSW	8	60526629	missense	probably damaging	1.00
R5233:Aadat	UTSW	8	60526622	missense	probably benign	0.01
R5367:Aadat	UTSW	8	60526596	missense	probably damaging	1.00
R6920:Aadat	UTSW	8	60529433	missense	probably damaging	0.97
R7064:Aadat	UTSW	8	60531712	missense	probably damaging	1.00
R7194:Aadat	UTSW	8	60526622	missense	probably benign	0.01
R7316:Aadat	UTSW	8	60526634	missense	probably damaging	0.98
R7634:Aadat	UTSW	8	60516068	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ACTAATTCCATTTCTGACGGCAG -3'
(R):5'- TCTCAGTCACATCATCAATGGC -3'

Sequencing Primer
(F):5'- CTGACGGCAGAGTTTTTAATGATC -3'
(R):5'- TCATCAATGGCATTTAAAAATGAACC -3'

Posted On

2014-09-17