Mutagenetix > Incidental Mutation

Incidental Mutation 'R1585:Aadat'

177439

Institutional Source

Beutler Lab

Gene Symbol

Aadat

Ensembl Gene

ENSMUSG00000057228

Gene Name

aminoadipate aminotransferase

Synonyms

Kat2, Kyat2, KATII, mKat-2

MMRRC Submission

039622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60958966-60998711 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60979714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 192 (D192V)

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: D185V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: D185V

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: D192V

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 91.2%

Validation Efficiency

95% (81/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,858,518 (GRCm39)	I50F	possibly damaging	Het
4930505A04Rik	T	C	11: 30,377,175 (GRCm39)		probably benign	Het
Akap12	A	G	10: 4,303,640 (GRCm39)	D150G	probably benign	Het
Amigo3	A	T	9: 107,931,231 (GRCm39)	N218I	probably damaging	Het
Ankmy1	A	G	1: 92,827,373 (GRCm39)	S60P	probably benign	Het
Apol7e	G	A	15: 77,602,029 (GRCm39)	S209N	probably damaging	Het
AW551984	A	T	9: 39,510,632 (GRCm39)	Y234*	probably null	Het
Bcam	A	T	7: 19,494,111 (GRCm39)	D393E	probably damaging	Het
Card9	A	G	2: 26,244,398 (GRCm39)	L444P	probably benign	Het
Ccar1	T	C	10: 62,586,780 (GRCm39)	E886G	unknown	Het
Ccnb2	A	T	9: 70,317,559 (GRCm39)		probably null	Het
Cd276	T	C	9: 58,442,838 (GRCm39)	S206G	probably damaging	Het
Cds1	T	A	5: 101,965,828 (GRCm39)		probably benign	Het
Cfap96	G	A	8: 46,409,515 (GRCm39)	S268L	probably benign	Het
Chuk	T	C	19: 44,065,812 (GRCm39)	S661G	possibly damaging	Het
Col17a1	T	C	19: 47,639,276 (GRCm39)	N1090D	probably benign	Het
Col3a1	A	T	1: 45,367,026 (GRCm39)		probably null	Het
Crispld1	G	T	1: 17,821,024 (GRCm39)	V355F	possibly damaging	Het
Cspg4	A	T	9: 56,806,151 (GRCm39)	R2321W	probably damaging	Het
Dner	T	C	1: 84,563,177 (GRCm39)	T61A	probably benign	Het
Dnmt3a	A	T	12: 3,951,660 (GRCm39)	Y679F	probably damaging	Het
Dzip3	A	T	16: 48,798,241 (GRCm39)		probably benign	Het
Eif3l	T	C	15: 78,968,381 (GRCm39)	S217P	possibly damaging	Het
Fbxo42	T	A	4: 140,925,417 (GRCm39)		probably benign	Het
Fhod1	A	T	8: 106,063,957 (GRCm39)		probably benign	Het
Fzd1	T	A	5: 4,806,278 (GRCm39)	I435F	probably damaging	Het
Gapvd1	C	T	2: 34,602,207 (GRCm39)	V647I	possibly damaging	Het
Gm14496	T	C	2: 181,638,002 (GRCm39)	S359P	possibly damaging	Het
Gm5218	C	A	15: 81,383,741 (GRCm39)		noncoding transcript	Het
Hnrnph3	A	G	10: 62,851,579 (GRCm39)		probably null	Het
Hsd17b12	G	T	2: 93,864,321 (GRCm39)	T262K	probably damaging	Het
Igsf10	G	C	3: 59,237,838 (GRCm39)	P781R	probably damaging	Het
Il11ra1	T	A	4: 41,768,207 (GRCm39)	S373T	probably damaging	Het
Kdm3b	A	G	18: 34,942,345 (GRCm39)	D612G	probably damaging	Het
Ldb1	T	C	19: 46,022,903 (GRCm39)	T261A	probably damaging	Het
Lep	C	A	6: 29,069,089 (GRCm39)	H47N	possibly damaging	Het
Lrrtm2	A	T	18: 35,346,428 (GRCm39)	S291R	possibly damaging	Het
Ncor2	T	C	5: 125,162,062 (GRCm39)	Q404R	unknown	Het
Nlrp4d	T	C	7: 10,116,437 (GRCm39)	H148R	probably benign	Het
Nlrp9a	T	A	7: 26,258,093 (GRCm39)	D570E	probably benign	Het
Nphp3	G	A	9: 103,886,413 (GRCm39)	V202I	probably damaging	Het
Nptn	T	A	9: 58,548,073 (GRCm39)	N159K	probably benign	Het
Or4a69	T	A	2: 89,313,315 (GRCm39)	T55S	probably benign	Het
Or4a72	A	T	2: 89,405,746 (GRCm39)	V108D	possibly damaging	Het
Or51f2	G	A	7: 102,526,980 (GRCm39)	V218I	probably benign	Het
Or52a24	A	T	7: 103,381,585 (GRCm39)	T151S	possibly damaging	Het
Or8b53	A	T	9: 38,667,716 (GRCm39)	H244L	probably damaging	Het
Pcolce	T	A	5: 137,608,769 (GRCm39)	R13*	probably null	Het
Pdgfra	A	G	5: 75,353,264 (GRCm39)	Y1018C	probably damaging	Het
Prima1	A	G	12: 103,201,854 (GRCm39)	S74P	probably damaging	Het
Prl7c1	A	G	13: 27,962,838 (GRCm39)	L55P	probably damaging	Het
Rasef	A	G	4: 73,658,574 (GRCm39)	V513A	probably damaging	Het
Rgs1	T	C	1: 144,121,227 (GRCm39)		probably null	Het
Rlf	T	C	4: 121,005,488 (GRCm39)	E1164G	probably benign	Het
Rnf213	A	T	11: 119,354,171 (GRCm39)	N4016I	probably damaging	Het
Sae1	C	T	7: 16,064,537 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,601,848 (GRCm39)	D207E	probably benign	Het
Setd2	T	A	9: 110,380,464 (GRCm39)	D33E	unknown	Het
Simc1	T	C	13: 54,673,071 (GRCm39)	M473T	probably benign	Het
Slc30a6	T	A	17: 74,725,610 (GRCm39)		probably benign	Het
Slc4a5	T	C	6: 83,242,669 (GRCm39)	L346P	probably damaging	Het
Spef2	T	A	15: 9,596,660 (GRCm39)	Q1473L	probably damaging	Het
St3gal3	G	T	4: 117,817,204 (GRCm39)	A44D	possibly damaging	Het
Sv2b	G	T	7: 74,797,425 (GRCm39)	T323K	probably damaging	Het
Sycp2	T	A	2: 177,993,461 (GRCm39)	N1228I	possibly damaging	Het
Thbs2	T	A	17: 14,910,030 (GRCm39)	M190L	probably benign	Het
Tnrc6a	G	A	7: 122,776,098 (GRCm39)	V1190I	probably benign	Het
Utrn	A	T	10: 12,312,029 (GRCm39)	I673K	possibly damaging	Het
Vmn2r114	C	T	17: 23,510,675 (GRCm39)	V602M	probably damaging	Het
Wdr7	A	T	18: 64,057,989 (GRCm39)	I1273L	probably benign	Het
Zfp618	T	C	4: 63,051,175 (GRCm39)	L652P	probably damaging	Het
Zfp804a	G	A	2: 81,884,095 (GRCm39)		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
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'- AGGGCATGAGCAGAACAGTTCTTC -3'
(R):5'- TGAGACCGCATAGCTACTTCCAGAG -3'

Sequencing Primer
(F):5'- GAGCAGAACAGTTCTTCATAAAAAC -3'
(R):5'- CGTATCACATTAGTTGGAACCCTG -3'

Posted On

2014-04-24