Mutagenetix > Incidental Mutation

Incidental Mutation 'R3946:Got2'

307712

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

040827-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.616) question?

Stock #

R3946 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

96590761-96615029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96614858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 26 (S26P)

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: S26P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034097
Gene: ENSMUSG00000031672
AA Change: S26P

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: ENSMUST00000212861

Meta Mutation Damage Score

0.1593

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.1%

Validation Efficiency

98% (60/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,492,913 (GRCm39)	Q328R	probably damaging	Het
Agr3	C	A	12: 35,997,512 (GRCm39)		probably benign	Het
Brca2	T	A	5: 150,460,169 (GRCm39)	S481R	probably damaging	Het
Cabin1	T	G	10: 75,581,093 (GRCm39)	Q411P	probably damaging	Het
Calr3	A	G	8: 73,197,464 (GRCm39)	Y22H	probably damaging	Het
Caprin1	T	A	2: 103,627,111 (GRCm39)	I59F	probably damaging	Het
Cdk5rap1	T	C	2: 154,190,636 (GRCm39)	T442A	probably damaging	Het
Chn2	T	C	6: 54,246,411 (GRCm39)		probably benign	Het
Cic	C	A	7: 24,971,771 (GRCm39)	R501S	possibly damaging	Het
Coch	A	G	12: 51,648,595 (GRCm39)		probably null	Het
Defa25	G	A	8: 21,574,506 (GRCm39)	V17I	probably null	Het
Dglucy	T	C	12: 100,804,959 (GRCm39)		probably null	Het
Dtx1	T	G	5: 120,819,351 (GRCm39)	T616P	possibly damaging	Het
Eef1g	T	C	19: 8,947,341 (GRCm39)	L171P	probably benign	Het
Fam135a	A	G	1: 24,069,475 (GRCm39)	S465P	probably damaging	Het
Gm14412	A	T	2: 177,006,478 (GRCm39)	C472*	probably null	Het
Gm7104	T	C	12: 88,252,812 (GRCm39)		noncoding transcript	Het
H2-M11	A	G	17: 36,860,123 (GRCm39)	I329M	probably damaging	Het
Hmcn2	T	A	2: 31,272,406 (GRCm39)	D1295E	possibly damaging	Het
Hoxd12	G	T	2: 74,505,771 (GRCm39)	R114L	probably damaging	Het
Ilkap	A	C	1: 91,314,972 (GRCm39)	D124E	probably damaging	Het
Maco1	A	G	4: 134,531,792 (GRCm39)	Y626H	probably damaging	Het
Med6	T	C	12: 81,628,625 (GRCm39)	Y88C	probably damaging	Het
Mep1a	A	T	17: 43,785,932 (GRCm39)	L719*	probably null	Het
Mmp23	T	C	4: 155,736,480 (GRCm39)	Y187C	probably damaging	Het
Myo1g	A	G	11: 6,470,760 (GRCm39)	M32T	possibly damaging	Het
Ncstn	T	C	1: 171,895,061 (GRCm39)	E614G	probably benign	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Or4f15	G	A	2: 111,813,642 (GRCm39)	T259M	possibly damaging	Het
Otub2	T	A	12: 103,359,085 (GRCm39)	L58*	probably null	Het
Pcdhga12	G	A	18: 37,900,682 (GRCm39)	V505I	probably benign	Het
Pcdhga9	T	A	18: 37,870,897 (GRCm39)	V242D	probably damaging	Het
Pex1	C	T	5: 3,676,084 (GRCm39)	L891F	probably damaging	Het
Pgm2	C	T	5: 64,269,404 (GRCm39)	T497I	probably benign	Het
Pikfyve	T	C	1: 65,235,840 (GRCm39)	F171L	probably damaging	Het
Pilrb1	T	G	5: 137,855,654 (GRCm39)	K79T	probably benign	Het
Pin1	C	T	9: 20,566,660 (GRCm39)	R21W	probably damaging	Het
Prxl2c	T	C	13: 64,456,912 (GRCm39)	I104V	probably damaging	Het
Ptprq	A	G	10: 107,522,253 (GRCm39)		probably benign	Het
Rad17	G	A	13: 100,759,371 (GRCm39)	A552V	possibly damaging	Het
Rbbp8	A	G	18: 11,851,925 (GRCm39)	T249A	probably benign	Het
Rtkn	A	T	6: 83,112,957 (GRCm39)	I10F	probably benign	Het
Scube2	T	A	7: 109,456,797 (GRCm39)	I103F	possibly damaging	Het
Sec23b	A	G	2: 144,423,893 (GRCm39)	H514R	probably benign	Het
Serbp1	T	A	6: 67,249,204 (GRCm39)	D223E	probably benign	Het
Slc14a1	C	A	18: 78,154,607 (GRCm39)	V260L	probably benign	Het
Slc22a23	A	G	13: 34,367,109 (GRCm39)	I633T	probably damaging	Het
Stk19	A	T	17: 35,043,723 (GRCm39)		probably benign	Het
Svs5	T	C	2: 164,079,047 (GRCm39)	M287V	probably benign	Het
Syne3	T	A	12: 104,924,325 (GRCm39)	Q358L	probably damaging	Het
Synj1	A	G	16: 90,806,984 (GRCm39)	F58L	possibly damaging	Het
Tg	T	C	15: 66,545,872 (GRCm39)	V198A	probably damaging	Het
Tle4	A	T	19: 14,574,752 (GRCm39)	Y9N	probably damaging	Het
Tmx3	G	A	18: 90,542,459 (GRCm39)	A186T	possibly damaging	Het
Traf3	G	A	12: 111,221,679 (GRCm39)	S280N	possibly damaging	Het
Trmt13	A	G	3: 116,375,167 (GRCm39)	F447S	probably damaging	Het
Trp53bp1	T	A	2: 121,059,107 (GRCm39)	H918L	probably damaging	Het
Ush2a	T	G	1: 188,460,701 (GRCm39)	V2654G	probably benign	Het
Vinac1	A	G	2: 128,881,521 (GRCm39)	L135P	probably damaging	Het
Vmn2r25	A	G	6: 123,817,057 (GRCm39)	Y175H	probably damaging	Het
Zfp335	T	C	2: 164,734,109 (GRCm39)	D1330G	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
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
R5233:Got2	UTSW	8	96,602,477 (GRCm39)	missense	probably benign	0.33
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'- GATTCTGGGTGCAGTCGAGAAC -3'
(R):5'- GTCCTCACCTTTTAGGAGCC -3'

Sequencing Primer
(F):5'- GGTGCAGTCGAGAACCACAATTC -3'
(R):5'- TTTTAGGAGCCCGCGCCTC -3'

Posted On

2015-04-17