Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Agxt2'

181483

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 #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

10358618-10410239 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 10393794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106171 (fasta)

Gene Model

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

AlphaFold

Q3UEG6

Predicted Effect

probably null
Transcript: ENSMUST00000022858

SMART Domains

Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678

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 null
Transcript: ENSMUST00000022858

SMART Domains

Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678

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 null
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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,629,659 (GRCm39)	I29T	probably damaging	Het
Agps	G	A	2: 75,740,045 (GRCm39)		probably null	Het
Ahnak	T	C	19: 8,992,273 (GRCm39)	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,852,853 (GRCm39)	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,806,125 (GRCm39)	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904 (GRCm39)	E674G	possibly damaging	Het
Atat1	T	A	17: 36,219,735 (GRCm39)		probably benign	Het
Ccar1	G	A	10: 62,626,714 (GRCm39)	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,321,001 (GRCm39)	D14G	probably damaging	Het
Cdh15	T	C	8: 123,586,089 (GRCm39)	F156S	probably damaging	Het
Dctn1	A	G	6: 83,168,326 (GRCm39)	T525A	possibly damaging	Het
Dnah8	T	G	17: 31,074,869 (GRCm39)		probably benign	Het
Dnajc10	T	A	2: 80,151,648 (GRCm39)		probably benign	Het
Dtl	C	A	1: 191,300,489 (GRCm39)	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,954 (GRCm39)	T149I	probably damaging	Het
Fgd6	A	G	10: 93,974,170 (GRCm39)	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,766 (GRCm39)		noncoding transcript	Het
Gnai1	A	G	5: 18,478,568 (GRCm39)	F199S	probably damaging	Het
Grb7	T	A	11: 98,345,480 (GRCm39)	V480D	probably damaging	Het
Hdc	A	G	2: 126,436,452 (GRCm39)	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,479,622 (GRCm39)	N4614S	probably benign	Het
Il20ra	A	G	10: 19,634,791 (GRCm39)	D344G	probably benign	Het
Ints1	C	T	5: 139,745,843 (GRCm39)	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,465,562 (GRCm39)		probably benign	Het
Kat14	T	C	2: 144,236,285 (GRCm39)	L339P	probably damaging	Het
Klhl22	A	G	16: 17,594,326 (GRCm39)	I152V	probably benign	Het
Krtap5-2	C	A	7: 141,729,459 (GRCm39)	G74*	probably null	Het
Lrrc59	C	A	11: 94,529,354 (GRCm39)		probably null	Het
Map3k13	A	G	16: 21,710,873 (GRCm39)	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,646,495 (GRCm39)		probably benign	Het
Mphosph9	A	T	5: 124,463,053 (GRCm39)		probably benign	Het
Myrf	A	G	19: 10,187,742 (GRCm39)		probably benign	Het
Nek11	T	C	9: 105,177,502 (GRCm39)	T250A	probably benign	Het
Nek5	A	T	8: 22,586,842 (GRCm39)	V323E	probably benign	Het
Nfasc	A	T	1: 132,536,176 (GRCm39)	C586*	probably null	Het
Nup210l	T	A	3: 90,111,231 (GRCm39)	L1711Q	possibly damaging	Het
Parp8	T	G	13: 117,013,108 (GRCm39)	K644Q	probably benign	Het
Pcnt	G	T	10: 76,269,513 (GRCm39)	Q252K	probably damaging	Het
Pianp	A	G	6: 124,977,646 (GRCm39)	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,799,298 (GRCm39)	V2839A	probably damaging	Het
Poli	C	T	18: 70,659,657 (GRCm39)	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,890,353 (GRCm39)	D447G	probably benign	Het
Rapgef5	A	G	12: 117,694,386 (GRCm39)	I637V	probably benign	Het
Rasip1	A	T	7: 45,286,188 (GRCm39)	R804*	probably null	Het
Relt	A	G	7: 100,500,350 (GRCm39)	V113A	probably benign	Het
Rnf215	G	T	11: 4,090,317 (GRCm39)	C345F	probably damaging	Het
Scart2	T	C	7: 139,854,040 (GRCm39)	C348R	probably damaging	Het
Scn2a	A	G	2: 65,532,173 (GRCm39)	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,307,316 (GRCm39)	V183M	probably damaging	Het
Snapc4	T	C	2: 26,256,452 (GRCm39)		probably benign	Het
Sparcl1	A	T	5: 104,240,406 (GRCm39)	D339E	probably benign	Het
Tg	T	C	15: 66,631,335 (GRCm39)	F535L	probably benign	Het
Zbtb45	C	A	7: 12,740,203 (GRCm39)	A471S	probably benign	Het
Zfp106	T	A	2: 120,365,288 (GRCm39)	K373M	probably benign	Het

Other mutations in Agxt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03368:Agxt2	APN	15	10,388,256 (GRCm39)	nonsense	probably null
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

2014-05-07