Mutagenetix > Incidental Mutation

Incidental Mutation 'R5233:Got2'

398134

Institutional Source

Beutler Lab

Gene Symbol

Got2

Ensembl Gene

ENSMUSG00000031672

Gene Name

glutamatic-oxaloacetic transaminase 2, mitochondrial

Synonyms

plasma membrane fatty acid binding protein, mitochondrial aspartate aminotransferase, FABP-pm, Kyat4, mAspAT

MMRRC Submission

042805-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.648) question?

Stock #

R5233 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96590761-96615029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96602477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 91 (N91I)

Ref Sequence

ENSEMBL: ENSMUSP00000034097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034097]

AlphaFold

P05202

PDB Structure

Crystal Structure of Mouse Mitochondrial Aspartate Aminotransferase/Kynurenine Aminotransferase IV [X-RAY DIFFRACTION]
Crystal structure of mouse mitochondrial aspartate aminotransferase, a newly identified kynurenine aminotransferase-IV [X-RAY DIFFRACTION]
Crystal structure of mouse mitochondrial aspartate aminotransferase in complex with oxaloacetic acid [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000034097
AA Change: N91I

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034097
Gene: ENSMUSG00000031672
AA Change: N91I

Domain	Start	End	E-Value	Type
low complexity region	14	31	N/A	INTRINSIC
Pfam:Aminotran_1_2	57	425	4.8e-97	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212190

Meta Mutation Damage Score

0.1068

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030619P08Rik	T	A	15: 75,301,801 (GRCm39)		noncoding transcript	Het
Aadat	A	G	8: 60,979,656 (GRCm39)	I173V	probably benign	Het
Acsl6	G	A	11: 54,216,432 (GRCm39)	V200I	possibly damaging	Het
Alms1	T	A	6: 85,633,353 (GRCm39)		probably null	Het
Arhgef17	A	T	7: 100,530,576 (GRCm39)	D1403E	possibly damaging	Het
Atp10b	A	G	11: 43,121,387 (GRCm39)	T1017A	probably benign	Het
Capg	C	T	6: 72,532,509 (GRCm39)	R25C	probably damaging	Het
Cd22	A	G	7: 30,576,959 (GRCm39)	I116T	probably damaging	Het
Cep135	AGTCTGCCTTTGG	A	5: 76,739,690 (GRCm39)		probably benign	Het
Ciita	A	T	16: 10,327,265 (GRCm39)	I277F	possibly damaging	Het
Col15a1	T	C	4: 47,296,112 (GRCm39)	V943A	possibly damaging	Het
Coq2	G	A	5: 100,805,698 (GRCm39)	H313Y	possibly damaging	Het
Csn3	C	T	5: 88,077,694 (GRCm39)	P67S	probably benign	Het
Csrnp3	A	G	2: 65,852,684 (GRCm39)	T359A	possibly damaging	Het
Cttnbp2nl	A	G	3: 104,912,357 (GRCm39)	L509P	probably damaging	Het
Dclk3	A	G	9: 111,297,749 (GRCm39)	D431G	probably benign	Het
Dtx3l	A	T	16: 35,753,608 (GRCm39)	C333S	possibly damaging	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Fam171a1	G	C	2: 3,179,390 (GRCm39)	G72A	probably damaging	Het
Fbxw17	T	C	13: 50,586,390 (GRCm39)		probably benign	Het
Fry	A	G	5: 150,393,185 (GRCm39)	D605G	possibly damaging	Het
Fyn	T	C	10: 39,405,936 (GRCm39)	F240S	probably benign	Het
Gcfc2	T	C	6: 81,930,271 (GRCm39)	L646P	probably damaging	Het
Gm5087	C	T	14: 13,158,788 (GRCm38)		noncoding transcript	Het
Hspa4	C	T	11: 53,177,802 (GRCm39)	V103I	possibly damaging	Het
Itgad	A	G	7: 127,792,600 (GRCm39)		probably null	Het
Krt33a	A	G	11: 99,904,961 (GRCm39)	S182P	probably damaging	Het
Mcph1	T	C	8: 18,721,254 (GRCm39)	I694T	probably damaging	Het
Mmp15	T	C	8: 96,097,696 (GRCm39)	V502A	probably benign	Het
Mov10l1	T	C	15: 88,867,235 (GRCm39)	V23A	probably benign	Het
Myo9a	T	A	9: 59,817,900 (GRCm39)	N2322K	probably damaging	Het
Ndst4	A	G	3: 125,503,766 (GRCm39)	Y11C	probably damaging	Het
Nell1	T	C	7: 49,826,062 (GRCm39)	F199S	probably damaging	Het
Nup210	C	T	6: 91,003,951 (GRCm39)	V646M	probably damaging	Het
Nup98	A	T	7: 101,845,029 (GRCm39)	S13R	unknown	Het
Nxf1	T	C	19: 8,741,293 (GRCm39)	I54T	possibly damaging	Het
Or8b38	A	G	9: 37,973,446 (GRCm39)	T277A	probably damaging	Het
Pcdh10	C	A	3: 45,338,626 (GRCm39)	R928S	probably damaging	Het
Pou3f3	A	G	1: 42,737,438 (GRCm39)	N378S	probably benign	Het
Rfx6	T	A	10: 51,588,187 (GRCm39)	Y109*	probably null	Het
Rorc	T	A	3: 94,304,632 (GRCm39)	V339D	probably benign	Het
Scin	T	A	12: 40,127,558 (GRCm39)	I411F	probably benign	Het
Serpind1	A	G	16: 17,154,758 (GRCm39)	Y195C	probably damaging	Het
Tas2r117	T	C	6: 132,780,585 (GRCm39)	V241A	possibly damaging	Het
Tet3	T	A	6: 83,363,045 (GRCm39)	E709V	probably damaging	Het
Trbc1	T	A	6: 41,515,383 (GRCm39)		probably benign	Het
Vmn1r212	C	A	13: 23,067,304 (GRCm39)	G343V	unknown	Het
Vmn2r42	T	A	7: 8,197,837 (GRCm39)	K261*	probably null	Het
Xrcc5	T	A	1: 72,379,209 (GRCm39)	L438Q	probably damaging	Het
Zfp142	T	C	1: 74,624,608 (GRCm39)	N72S	probably damaging	Het
Zfp292	A	T	4: 34,809,755 (GRCm39)	S1096R	probably damaging	Het

Other mutations in Got2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02567:Got2	APN	8	96,598,829 (GRCm39)	missense	probably benign	0.06
Toothpick	UTSW	8	96,598,896 (GRCm39)	missense	probably benign	0.20
R0189:Got2	UTSW	8	96,614,881 (GRCm39)	missense	probably benign	0.11
R0254:Got2	UTSW	8	96,596,166 (GRCm39)	missense	probably benign	0.03
R1450:Got2	UTSW	8	96,598,614 (GRCm39)	missense	probably benign	0.00
R1552:Got2	UTSW	8	96,596,122 (GRCm39)	missense	probably benign	0.22
R2495:Got2	UTSW	8	96,614,918 (GRCm39)	missense	possibly damaging	0.81
R3946:Got2	UTSW	8	96,614,858 (GRCm39)	missense	probably benign
R4021:Got2	UTSW	8	96,604,381 (GRCm39)	missense	probably damaging	1.00
R4594:Got2	UTSW	8	96,598,814 (GRCm39)	missense	probably benign	0.15
R5087:Got2	UTSW	8	96,598,951 (GRCm39)	missense	probably benign	0.00
R6156:Got2	UTSW	8	96,598,896 (GRCm39)	missense	probably benign	0.20
R6529:Got2	UTSW	8	96,615,013 (GRCm39)	start gained	probably benign
R8481:Got2	UTSW	8	96,615,152 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTCCTATCAGTAAGCGTGGTCAC -3'
(R):5'- TGGAATATTAGGCTTGCCAAGTG -3'

Sequencing Primer
(F):5'- TCAGTAAGCGTGGTCACCATTAC -3'
(R):5'- CCAAGTGGCCAGTCCCG -3'

Posted On

2016-07-06