Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Aadat'

49325

Institutional Source

Beutler Lab

Gene Symbol

Aadat

Ensembl Gene

ENSMUSG00000057228

Gene Name

aminoadipate aminotransferase

Synonyms

KATII, Kat2, mKat-2

MMRRC Submission

038725-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60505932-60545677 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 60531763 bp (GRCm38)

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: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	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
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
R2051:Aadat	UTSW	8	60507139	missense	probably benign	0.00
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
R8672:Aadat	UTSW	8	60506145	unclassified	probably benign
R8711:Aadat	UTSW	8	60516086	missense	probably benign	0.01
R8803:Aadat	UTSW	8	60545256	missense	probably benign	0.14
R8919:Aadat	UTSW	8	60540124	missense	possibly damaging	0.94
R9204:Aadat	UTSW	8	60543532	missense	possibly damaging	0.90
R9207:Aadat	UTSW	8	60526623	missense	probably damaging	1.00
R9313:Aadat	UTSW	8	60526601	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