Mutagenetix > Incidental Mutation

Incidental Mutation 'R9204:Aadat'

698384

Institutional Source

Beutler Lab

Gene Symbol

Aadat

Ensembl Gene

ENSMUSG00000057228

Gene Name

aminoadipate aminotransferase

Synonyms

KATII, Kat2, mKat-2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9204 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60505932-60545677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60543532 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 389 (V389A)

Ref Sequence

ENSEMBL: ENSMUSP00000148060 (fasta)

Gene Model

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

AlphaFold

Q9WVM8

Predicted Effect

probably benign
Transcript: ENSMUST00000079472
AA Change: V382A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: V382A

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

possibly damaging
Transcript: ENSMUST00000209338
AA Change: V389A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	A	7: 127,385,160	I257L	unknown	Het
9930021J03Rik	A	G	19: 29,719,538	S852P	possibly damaging	Het
Adgrl1	T	C	8: 83,933,890	F792S	probably benign	Het
Angptl2	A	T	2: 33,228,330	I39F	probably benign	Het
Aprt	A	G	8: 122,576,616	I29T	probably damaging	Het
Arhgap21	A	T	2: 20,881,005	S464T	probably damaging	Het
Atic	T	C	1: 71,564,477	Y151H	probably damaging	Het
BB014433	T	C	8: 15,042,623	T77A	unknown	Het
Boc	C	A	16: 44,487,714	C926F		Het
C130026I21Rik	G	A	1: 85,257,449	H130Y	probably benign	Het
Cabin1	C	T	10: 75,694,716	R1544Q	probably benign	Het
Ccdc33	A	G	9: 58,031,105	V861A	probably benign	Het
Ccdc88c	T	C	12: 100,938,063	T230A	unknown	Het
Cdc42bpa	T	A	1: 180,111,895		probably null	Het
Chrnb2	T	C	3: 89,760,821	M396V	probably benign	Het
Chst2	A	G	9: 95,405,102	V397A	probably damaging	Het
Cit	T	A	5: 115,988,439	N1643K	probably damaging	Het
Ckb	T	A	12: 111,671,435	D113V	probably benign	Het
Cyp2c68	A	T	19: 39,739,127	M136K	probably damaging	Het
Epas1	G	T	17: 86,809,445	R181L	probably damaging	Het
Flnc	A	C	6: 29,452,354	I1726L	possibly damaging	Het
Fras1	G	A	5: 96,735,163	R2518H	probably damaging	Het
Gid4	T	C	11: 60,417,828	V58A	probably benign	Het
Hmcn1	T	A	1: 150,734,511	N1469I	probably benign	Het
Hmcn2	A	G	2: 31,388,365	E1693G	probably damaging	Het
Irx4	C	G	13: 73,268,530	C348W	probably damaging	Het
Lrig2	A	G	3: 104,480,122	S410P	possibly damaging	Het
Lsm11	A	G	11: 45,933,962	V246A	probably benign	Het
Ltbp1	G	T	17: 75,363,430	V1489F	probably damaging	Het
Mc2r	T	C	18: 68,407,596	T209A	probably benign	Het
Mms22l	T	C	4: 24,581,153	L821P	probably damaging	Het
Mtus2	A	T	5: 148,301,483	E1206V	probably damaging	Het
Muc5b	T	A	7: 141,856,392	H1234Q	unknown	Het
Naip5	A	T	13: 100,222,500	F743I	probably damaging	Het
Nphp3	G	A	9: 104,042,106	V1318I	probably benign	Het
Olfr1257	T	G	2: 89,881,138	L104W	probably damaging	Het
Olfr484	A	T	7: 108,124,728	N178K	possibly damaging	Het
Olfr628	A	G	7: 103,732,849	K308E	possibly damaging	Het
Olfr826	G	C	10: 130,180,697	P61R	probably damaging	Het
Olfr844	T	C	9: 19,318,699	L61P	probably damaging	Het
Olfr878	C	A	9: 37,919,374	T239K	probably damaging	Het
Paqr5	G	A	9: 61,961,544	R246C	probably benign	Het
Pdgfb	T	C	15: 80,001,755	Q128R	probably damaging	Het
Prr3	T	A	17: 35,974,727	I88F	possibly damaging	Het
Ptprd	C	G	4: 75,954,078	A1134P	possibly damaging	Het
R3hcc1l	G	A	19: 42,563,862	D433N	probably benign	Het
Scnn1b	A	T	7: 121,899,299	T21S	probably benign	Het
Smcr8	A	G	11: 60,778,031	I2V	probably damaging	Het
Stk33	T	C	7: 109,341,479	D8G	probably benign	Het
Tbc1d22a	T	C	15: 86,214,602	F10L	probably benign	Het
Tmem126a	T	A	7: 90,452,818	I58F	possibly damaging	Het
Ttf2	T	C	3: 100,962,564	K398E	probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Usp53	G	T	3: 122,947,419	N727K	probably benign	Het
Vmn2r25	T	G	6: 123,853,133	I20L	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
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
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'- GGTTTGTCTAGAGCATGCCATATG -3'
(R):5'- CTGTATCCATCTGTGCTGGAG -3'

Sequencing Primer
(F):5'- GAGCATGCCATATGTATTTTTATGTG -3'
(R):5'- TAGCCAGAGAGAAGAATGCTCTG -3'

Posted On

2022-02-07