Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03368:Agxt2'

420159

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agxt2

Ensembl Gene

ENSMUSG00000089678

Gene Name

alanine-glyoxylate aminotransferase 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL03368

Quality Score

Status

Chromosome

Chromosomal Location

10358618-10410239 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 10388256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 278 (C278*)

Ref Sequence

ENSEMBL: ENSMUSP00000022858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022858] [ENSMUST00000110542]

AlphaFold

Q3UEG6

Predicted Effect

probably null
Transcript: ENSMUST00000022858
AA Change: C278*

SMART Domains

Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678
AA Change: C278*

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	76	228	4.5e-36	PFAM
Pfam:Aminotran_3	269	532	5.7e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110542

SMART Domains

Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	87	443	1.3e-88	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted allele exhibit reduced circulating L-citrulline, hypertension under terminal aesthesia and increased vasodilation maximal response following acetylcholine treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530053G22Rik	T	C	6: 60,380,530 (GRCm39)		noncoding transcript	Het
Abca5	A	G	11: 110,204,348 (GRCm39)		probably benign	Het
Ankar	A	G	1: 72,714,972 (GRCm39)	L384P	probably damaging	Het
Ankrd55	T	C	13: 112,455,090 (GRCm39)		probably benign	Het
Ap5m1	A	G	14: 49,318,593 (GRCm39)		probably benign	Het
Arhgap18	C	T	10: 26,648,689 (GRCm39)	S37F	possibly damaging	Het
Btnl10	G	A	11: 58,810,212 (GRCm39)	V118I	possibly damaging	Het
Chst11	C	A	10: 82,927,980 (GRCm39)	P66T	probably benign	Het
Cited2	C	A	10: 17,599,944 (GRCm39)	P84Q	possibly damaging	Het
Cplane1	T	C	15: 8,251,857 (GRCm39)	V1914A	probably benign	Het
Dpy19l4	T	A	4: 11,290,253 (GRCm39)	I302F	possibly damaging	Het
Ece2	A	G	16: 20,462,908 (GRCm39)	E640G	possibly damaging	Het
Fam184b	T	C	5: 45,689,166 (GRCm39)	D890G	possibly damaging	Het
Fam227b	A	T	2: 125,960,983 (GRCm39)	D215E	probably damaging	Het
Foxp2	A	G	6: 15,394,717 (GRCm39)	K139R	probably damaging	Het
Gle1	T	C	2: 29,833,805 (GRCm39)	C401R	probably damaging	Het
Gp2	A	T	7: 119,052,097 (GRCm39)	C206S	probably damaging	Het
Hdgfl2	G	T	17: 56,386,746 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,539,623 (GRCm39)	N2956S	probably damaging	Het
Ifi209	A	G	1: 173,470,057 (GRCm39)	Q215R	possibly damaging	Het
Il20rb	C	T	9: 100,341,174 (GRCm39)		probably benign	Het
Katnip	T	C	7: 125,468,030 (GRCm39)		probably benign	Het
Kif26b	A	C	1: 178,743,773 (GRCm39)	S1290R	probably damaging	Het
Mical1	A	G	10: 41,355,625 (GRCm39)	I156M	probably damaging	Het
Nbas	C	T	12: 13,378,452 (GRCm39)	A613V	probably benign	Het
Nbea	C	T	3: 55,987,351 (GRCm39)	V380M	probably damaging	Het
Nutf2	T	C	8: 106,602,232 (GRCm39)	F14S	probably damaging	Het
Or4c35	A	T	2: 89,808,133 (GRCm39)	I4L	probably benign	Het
Or52r1b	T	A	7: 102,690,972 (GRCm39)	H95Q	possibly damaging	Het
Parp1	A	G	1: 180,408,187 (GRCm39)	E236G	probably benign	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Ptcd2	T	A	13: 99,466,577 (GRCm39)		probably benign	Het
Pygl	T	C	12: 70,237,926 (GRCm39)	Q704R	probably benign	Het
Scaper	A	T	9: 55,563,311 (GRCm39)	S492T	possibly damaging	Het
Sephs1	G	A	2: 4,894,080 (GRCm39)	D94N	possibly damaging	Het
Slc22a29	A	C	19: 8,184,626 (GRCm39)		probably null	Het
Slc22a8	G	T	19: 8,586,483 (GRCm39)		probably benign	Het
Slfn5	A	G	11: 82,847,211 (GRCm39)	D32G	possibly damaging	Het
Sphkap	T	A	1: 83,253,397 (GRCm39)	T1451S	probably benign	Het
Srp54a	A	C	12: 55,138,051 (GRCm39)	E63A	probably null	Het
Stap1	T	A	5: 86,238,827 (GRCm39)	I165N	probably damaging	Het
Terf2	T	C	8: 107,797,181 (GRCm39)	E494G	probably damaging	Het
Trak1	C	A	9: 121,196,188 (GRCm39)	L7I	possibly damaging	Het
Twnk	T	C	19: 44,998,931 (GRCm39)	V557A	probably damaging	Het
U2af2	T	A	7: 5,070,263 (GRCm39)		probably benign	Het
Ube2j1	T	A	4: 33,038,317 (GRCm39)	I75N	probably damaging	Het
Ubr5	A	G	15: 37,998,560 (GRCm39)	V1643A	probably damaging	Het
Vsx2	A	G	12: 84,617,074 (GRCm39)	T120A	probably benign	Het

Other mutations in Agxt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01958:Agxt2	APN	15	10,393,794 (GRCm39)	splice site	probably null
IGL02434:Agxt2	APN	15	10,358,686 (GRCm39)	missense	possibly damaging	0.83
IGL02824:Agxt2	APN	15	10,393,891 (GRCm39)	missense	probably null	0.96
IGL02929:Agxt2	APN	15	10,388,379 (GRCm39)	splice site	probably benign
PIT4810001:Agxt2	UTSW	15	10,399,151 (GRCm39)	missense	probably benign	0.00
R0179:Agxt2	UTSW	15	10,399,134 (GRCm39)	missense	possibly damaging	0.71
R0526:Agxt2	UTSW	15	10,373,948 (GRCm39)	missense	probably damaging	1.00
R1085:Agxt2	UTSW	15	10,388,338 (GRCm39)	missense	probably benign	0.00
R1173:Agxt2	UTSW	15	10,373,837 (GRCm39)	missense	probably damaging	1.00
R1174:Agxt2	UTSW	15	10,373,837 (GRCm39)	missense	probably damaging	1.00
R1387:Agxt2	UTSW	15	10,380,696 (GRCm39)	missense	probably damaging	1.00
R1642:Agxt2	UTSW	15	10,373,917 (GRCm39)	missense	probably damaging	1.00
R1938:Agxt2	UTSW	15	10,392,021 (GRCm39)	missense	probably damaging	1.00
R3439:Agxt2	UTSW	15	10,381,511 (GRCm39)	missense	probably benign	0.19
R4485:Agxt2	UTSW	15	10,378,968 (GRCm39)	missense	possibly damaging	0.89
R4698:Agxt2	UTSW	15	10,392,130 (GRCm39)	critical splice donor site	probably null
R5582:Agxt2	UTSW	15	10,399,245 (GRCm39)	missense	probably damaging	1.00
R6056:Agxt2	UTSW	15	10,378,963 (GRCm39)	missense	probably damaging	1.00
R6109:Agxt2	UTSW	15	10,377,508 (GRCm39)	missense	probably damaging	1.00
R6393:Agxt2	UTSW	15	10,393,894 (GRCm39)	critical splice donor site	probably null
R6868:Agxt2	UTSW	15	10,373,855 (GRCm39)	missense	probably damaging	1.00
R7206:Agxt2	UTSW	15	10,377,542 (GRCm39)	missense	probably damaging	0.99
R7275:Agxt2	UTSW	15	10,358,753 (GRCm39)	missense	probably benign	0.00
R7475:Agxt2	UTSW	15	10,409,623 (GRCm39)	missense	probably benign
R7792:Agxt2	UTSW	15	10,381,472 (GRCm39)	missense	probably damaging	1.00
R8722:Agxt2	UTSW	15	10,373,825 (GRCm39)	missense	probably benign
R8899:Agxt2	UTSW	15	10,378,900 (GRCm39)	missense	probably damaging	1.00
R8929:Agxt2	UTSW	15	10,393,830 (GRCm39)	missense	probably benign	0.02
R9229:Agxt2	UTSW	15	10,409,597 (GRCm39)	missense	probably damaging	1.00
R9311:Agxt2	UTSW	15	10,380,733 (GRCm39)	missense	probably damaging	0.96
R9608:Agxt2	UTSW	15	10,400,624 (GRCm39)	missense	possibly damaging	0.92

Posted On

2016-08-02