Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Aadat'

49325

Institutional Source

Beutler Lab

Gene Symbol

Aadat

Ensembl Gene

ENSMUSG00000057228

Gene Name

aminoadipate aminotransferase

Synonyms

Kat2, Kyat2, KATII, mKat-2

MMRRC Submission

038725-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60958966-60998711 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 60984797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148060 (fasta)

Gene Model

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

AlphaFold

Q9WVM8

Predicted Effect

probably benign
Transcript: ENSMUST00000079472

SMART Domains

Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228

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: ENSMUST00000209338

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	T	5: 8,914,113 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,391,592 (GRCm39)	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,413,408 (GRCm39)	W531R	probably damaging	Het
Ago4	A	G	4: 126,410,653 (GRCm39)	V246A	probably benign	Het
Arid5b	A	T	10: 68,021,863 (GRCm39)	D242E	probably damaging	Het
Arpp21	A	G	9: 111,955,573 (GRCm39)	V522A	probably benign	Het
Atg4b	T	A	1: 93,712,632 (GRCm39)		probably benign	Het
Capn12	T	C	7: 28,587,108 (GRCm39)	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,920,541 (GRCm39)	I360N	probably damaging	Het
Clic3	A	G	2: 25,348,150 (GRCm39)	Y99C	probably damaging	Het
Cux1	T	C	5: 136,336,713 (GRCm39)	E925G	probably damaging	Het
Dnah10	G	A	5: 124,852,314 (GRCm39)		probably null	Het
Dnah17	A	G	11: 118,001,363 (GRCm39)	V860A	possibly damaging	Het
Etv5	C	T	16: 22,254,825 (GRCm39)		probably benign	Het
Fam83a	T	A	15: 57,873,207 (GRCm39)	N345K	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gpm6a	A	G	8: 55,508,409 (GRCm39)		probably null	Het
Grid1	T	A	14: 35,031,342 (GRCm39)	Y312N	possibly damaging	Het
Gstm4	T	C	3: 107,950,841 (GRCm39)	N51S	probably benign	Het
Hid1	A	T	11: 115,239,635 (GRCm39)	I765N	probably damaging	Het
Hmmr	A	G	11: 40,600,816 (GRCm39)	V518A	unknown	Het
Itgb6	A	G	2: 60,499,541 (GRCm39)	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,737,948 (GRCm39)	K233E	probably benign	Het
Kif15	A	T	9: 122,838,498 (GRCm39)		probably benign	Het
Klre1	T	C	6: 129,560,156 (GRCm39)	S143P	probably damaging	Het
Krt81	T	C	15: 101,359,270 (GRCm39)	D216G	probably benign	Het
Mctp2	G	T	7: 71,730,570 (GRCm39)	H868Q	probably benign	Het
Morc2b	G	C	17: 33,354,906 (GRCm39)	Y955*	probably null	Het
Myog	A	C	1: 134,218,211 (GRCm39)	N140H	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Neil3	A	T	8: 54,091,810 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,321,273 (GRCm39)		probably null	Het
Or1o4	A	T	17: 37,591,182 (GRCm39)	L43*	probably null	Het
Or56a3b	G	A	7: 104,771,557 (GRCm39)	V298I	probably benign	Het
Or56b35	A	T	7: 104,963,579 (GRCm39)	M123L	probably benign	Het
Pramel16	A	T	4: 143,677,290 (GRCm39)	D96E	possibly damaging	Het
Pramel23	G	T	4: 143,424,590 (GRCm39)	C284*	probably null	Het
Ptger2	T	A	14: 45,226,439 (GRCm39)	N6K	possibly damaging	Het
Ryr1	T	A	7: 28,778,205 (GRCm39)	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,786,868 (GRCm39)	F397Y	probably damaging	Het
Skint5	A	G	4: 113,685,064 (GRCm39)	V551A	unknown	Het
Slc39a12	A	G	2: 14,405,142 (GRCm39)	T245A	probably benign	Het
Syne1	C	T	10: 5,308,438 (GRCm39)	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,411,855 (GRCm39)	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,760,854 (GRCm39)	T187I	probably benign	Het
Ttll6	G	A	11: 96,045,582 (GRCm39)	A600T	probably benign	Het
Ust	T	C	10: 8,123,844 (GRCm39)		probably benign	Het
Vmn2r71	GT	GTT	7: 85,268,426 (GRCm39)		probably null	Het
Vstm2a	C	T	11: 16,213,041 (GRCm39)	A142V	probably damaging	Het
Wfs1	T	A	5: 37,131,066 (GRCm39)		probably benign	Het
Wrap73	G	A	4: 154,236,106 (GRCm39)	G145D	probably damaging	Het
Wrap73	G	A	4: 154,240,611 (GRCm39)	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,524,352 (GRCm39)		probably null	Het
Zfhx2	C	T	14: 55,301,547 (GRCm39)	V2146I	probably benign	Het
Zfp335	A	T	2: 164,749,842 (GRCm39)	L185*	probably null	Het

Other mutations in Aadat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Aadat	APN	8	60,988,792 (GRCm39)	missense	probably benign	0.11
IGL01123:Aadat	APN	8	60,979,648 (GRCm39)	missense	probably benign	0.14
IGL01524:Aadat	APN	8	60,969,106 (GRCm39)	missense	probably damaging	0.97
IGL01767:Aadat	APN	8	60,960,126 (GRCm39)	missense	probably damaging	0.96
IGL02824:Aadat	APN	8	60,969,056 (GRCm39)	missense	probably benign	0.01
IGL03150:Aadat	APN	8	60,996,596 (GRCm39)	missense	probably damaging	0.97
IGL03356:Aadat	APN	8	60,984,725 (GRCm39)	missense	probably damaging	1.00
R0015:Aadat	UTSW	8	60,987,605 (GRCm39)	splice site	probably benign
R0294:Aadat	UTSW	8	60,987,642 (GRCm39)	missense	possibly damaging	0.77
R0631:Aadat	UTSW	8	60,982,479 (GRCm39)	splice site	probably benign
R1585:Aadat	UTSW	8	60,979,714 (GRCm39)	missense	possibly damaging	0.67
R1728:Aadat	UTSW	8	60,979,746 (GRCm39)	missense	probably damaging	1.00
R1729:Aadat	UTSW	8	60,979,746 (GRCm39)	missense	probably damaging	1.00
R2051:Aadat	UTSW	8	60,960,173 (GRCm39)	missense	probably benign	0.00
R2362:Aadat	UTSW	8	60,985,332 (GRCm39)	splice site	probably benign
R3971:Aadat	UTSW	8	60,971,615 (GRCm39)	missense	probably damaging	1.00
R4126:Aadat	UTSW	8	60,984,703 (GRCm39)	missense	probably benign	0.00
R4736:Aadat	UTSW	8	60,993,140 (GRCm39)	missense	probably benign	0.30
R4739:Aadat	UTSW	8	60,993,140 (GRCm39)	missense	probably benign	0.30
R4750:Aadat	UTSW	8	60,979,634 (GRCm39)	missense	probably benign	0.10
R4874:Aadat	UTSW	8	60,969,147 (GRCm39)	critical splice donor site	probably null
R4884:Aadat	UTSW	8	60,979,663 (GRCm39)	missense	probably damaging	1.00
R5233:Aadat	UTSW	8	60,979,656 (GRCm39)	missense	probably benign	0.01
R5367:Aadat	UTSW	8	60,979,630 (GRCm39)	missense	probably damaging	1.00
R6920:Aadat	UTSW	8	60,982,467 (GRCm39)	missense	probably damaging	0.97
R7064:Aadat	UTSW	8	60,984,746 (GRCm39)	missense	probably damaging	1.00
R7194:Aadat	UTSW	8	60,979,656 (GRCm39)	missense	probably benign	0.01
R7316:Aadat	UTSW	8	60,979,668 (GRCm39)	missense	probably damaging	0.98
R7634:Aadat	UTSW	8	60,969,102 (GRCm39)	missense	probably benign	0.09
R8672:Aadat	UTSW	8	60,959,179 (GRCm39)	unclassified	probably benign
R8711:Aadat	UTSW	8	60,969,120 (GRCm39)	missense	probably benign	0.01
R8803:Aadat	UTSW	8	60,998,290 (GRCm39)	missense	probably benign	0.14
R8919:Aadat	UTSW	8	60,993,158 (GRCm39)	missense	possibly damaging	0.94
R9204:Aadat	UTSW	8	60,996,566 (GRCm39)	missense	possibly damaging	0.90
R9207:Aadat	UTSW	8	60,979,657 (GRCm39)	missense	probably damaging	1.00
R9313:Aadat	UTSW	8	60,979,635 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGCCCTCGTCCATGCTATGCAATG -3'
(R):5'- TTCCACCAGAAGAGAGATGGCTCAG -3'

Sequencing Primer
(F):5'- GTCCATGCTATGCAATGTAACC -3'
(R):5'- ACAATGCACATATCATTAAGACTGTC -3'

Posted On

2013-06-12