Mutagenetix > Incidental Mutation

Incidental Mutation 'R7064:Aadat'

548450

Institutional Source

Beutler Lab

Gene Symbol

Aadat

Ensembl Gene

ENSMUSG00000057228

Gene Name

aminoadipate aminotransferase

Synonyms

Kat2, Kyat2, KATII, mKat-2

MMRRC Submission

045160-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7064 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60958966-60998711 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60984746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 263 (I263T)

Ref Sequence

ENSEMBL: ENSMUSP00000148060 (fasta)

Gene Model

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

AlphaFold

Q9WVM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000079472
AA Change: I256T

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

SMART Domains

Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: I256T

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 damaging
Transcript: ENSMUST00000209338
AA Change: I263T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	T	4: 86,260,278 (GRCm39)	P830S	possibly damaging	Het
Adrb1	T	C	19: 56,711,456 (GRCm39)	F218S	probably damaging	Het
Ahnak2	T	C	12: 112,746,919 (GRCm39)		probably benign	Het
Arsj	T	A	3: 126,231,986 (GRCm39)	V244E	probably damaging	Het
Atm	T	C	9: 53,419,181 (GRCm39)	E757G	probably benign	Het
AU040320	A	G	4: 126,685,865 (GRCm39)	D147G	probably benign	Het
Btnl10	A	T	11: 58,810,134 (GRCm39)	M92L	possibly damaging	Het
Chd6	T	C	2: 160,791,983 (GRCm39)	D2458G	probably damaging	Het
Cntn3	T	C	6: 102,250,772 (GRCm39)	I259V	probably damaging	Het
Ctns	A	G	11: 73,077,218 (GRCm39)	V250A	probably benign	Het
Cxxc1	T	A	18: 74,353,678 (GRCm39)		probably null	Het
Cyp2a4	A	T	7: 26,011,732 (GRCm39)	M318L	probably benign	Het
Dchs1	A	G	7: 105,412,392 (GRCm39)	L1302P	probably damaging	Het
Decr1	C	A	4: 15,945,392 (GRCm39)			Het
Dmbx1	T	C	4: 115,775,465 (GRCm39)	N272D	probably damaging	Het
Dsel	C	A	1: 111,790,577 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,804 (GRCm39)	D389A	possibly damaging	Het
Ero1a	T	C	14: 45,544,049 (GRCm39)	T52A	probably damaging	Het
Fam186a	T	C	15: 99,839,557 (GRCm39)	E2229G	unknown	Het
Gabrd	C	T	4: 155,472,803 (GRCm39)	V127M	probably damaging	Het
Gpc2	A	T	5: 138,277,172 (GRCm39)	F85Y	probably damaging	Het
Gucy2g	A	G	19: 55,198,764 (GRCm39)	L793S	probably benign	Het
Irag1	C	G	7: 110,495,061 (GRCm39)	E455Q	probably damaging	Het
Itpr3	G	C	17: 27,308,269 (GRCm39)	G298R	probably damaging	Het
Kalrn	A	T	16: 34,038,261 (GRCm39)	C1024S	probably damaging	Het
Krt40	T	C	11: 99,430,954 (GRCm39)	Y185C	probably benign	Het
Lmo7	G	A	14: 102,121,615 (GRCm39)	D227N	probably damaging	Het
Mmrn1	T	A	6: 60,965,524 (GRCm39)	L1184*	probably null	Het
Or10s1	T	A	9: 39,986,109 (GRCm39)	Y173N	probably damaging	Het
Or14j2	T	A	17: 37,885,634 (GRCm39)	R227W	probably damaging	Het
Or4c15	T	A	2: 88,759,853 (GRCm39)	M269L	probably benign	Het
Parp9	T	G	16: 35,774,042 (GRCm39)	V338G	probably benign	Het
Pcdh15	G	A	10: 74,466,446 (GRCm39)	E888K	possibly damaging	Het
Pcdh9	C	T	14: 94,123,585 (GRCm39)	E862K	probably damaging	Het
Prkdc	A	G	16: 15,608,317 (GRCm39)	T3040A	probably benign	Het
Qser1	T	C	2: 104,617,464 (GRCm39)	E1026G	probably damaging	Het
Rnf20	C	T	4: 49,644,580 (GRCm39)	R282*	probably null	Het
Rpgrip1l	T	A	8: 91,990,148 (GRCm39)	K765*	probably null	Het
Rprd2	G	A	3: 95,672,328 (GRCm39)	T1025M	probably damaging	Het
Scn4a	A	G	11: 106,212,983 (GRCm39)	Y1341H	possibly damaging	Het
Scn5a	C	G	9: 119,318,977 (GRCm39)	D1554H	probably damaging	Het
Septin14	T	C	5: 129,774,870 (GRCm39)	I102V	probably benign	Het
Septin4	A	G	11: 87,481,193 (GRCm39)	T378A	probably benign	Het
Siglec1	C	T	2: 130,925,834 (GRCm39)	G291R	probably benign	Het
Sik2	A	G	9: 50,818,720 (GRCm39)	V418A	probably damaging	Het
Slc9a5	A	G	8: 106,076,078 (GRCm39)	T24A	possibly damaging	Het
Spata31d1b	T	C	13: 59,863,955 (GRCm39)	S368P	probably benign	Het
Stip1	T	C	19: 7,012,925 (GRCm39)	D53G	probably benign	Het
Stk36	T	C	1: 74,649,979 (GRCm39)	W245R	probably damaging	Het
Stk39	A	T	2: 68,189,156 (GRCm39)		probably null	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tasor	C	T	14: 27,194,288 (GRCm39)	P1163S	probably benign	Het
Terb1	A	T	8: 105,215,186 (GRCm39)	N263K	probably benign	Het
Tgm5	T	C	2: 120,883,995 (GRCm39)	M333V	probably benign	Het
Tmem45a	T	C	16: 56,642,767 (GRCm39)	M135V	probably benign	Het
Trmt13	T	A	3: 116,376,346 (GRCm39)	K348N	probably damaging	Het
Trmt2a	A	T	16: 18,070,868 (GRCm39)	M534L	probably damaging	Het
Ttll13	G	A	7: 79,906,778 (GRCm39)	R513K	probably null	Het
Vmn1r228	T	A	17: 20,997,285 (GRCm39)	I78L	probably benign	Het
Washc3	T	C	10: 88,081,635 (GRCm39)	V173A	possibly damaging	Het
Zc2hc1b	A	T	10: 13,047,049 (GRCm39)	C21S	probably damaging	Het
Zfp944	T	A	17: 22,558,560 (GRCm39)	H229L	probably damaging	Het
Zfp985	T	A	4: 147,667,573 (GRCm39)	I147N	probably benign	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
R0533:Aadat	UTSW	8	60,984,797 (GRCm39)	splice site	probably benign
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
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'- CAGGCTTCACAGGTCTTATAGCC -3'
(R):5'- TAGCCAAACATCTTTGAACACTGG -3'

Sequencing Primer
(F):5'- GGCTTCACAGGTCTTATAGCCTAGAC -3'
(R):5'- GAGAGTGAAATACCCACATG -3'

Posted On

2019-05-13