Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01431:Got1'

84121

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Got1

Ensembl Gene

ENSMUSG00000025190

Gene Name

glutamic-oxaloacetic transaminase 1, soluble

Synonyms

cytosolic aspartate aminotransferase, cAspAT, Got-1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01431

Quality Score

Status

Chromosome

Chromosomal Location

43499752-43524605 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 43503049 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 321 (K321*)

Ref Sequence

ENSEMBL: ENSMUSP00000026196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026196]

Predicted Effect

probably null
Transcript: ENSMUST00000026196
AA Change: K321*

SMART Domains

Protein: ENSMUSP00000026196
Gene: ENSMUSG00000025190
AA Change: K321*

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	31	405	1.4e-94	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132504

Predicted Effect

probably benign
Transcript: ENSMUST00000133325

SMART Domains

Protein: ENSMUSP00000117986
Gene: ENSMUSG00000025190

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	1	181	7.2e-39	PFAM

Coding Region Coverage

Validation Efficiency

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 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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,225,395		probably benign	Het
Adamts7	A	G	9: 90,207,785	I897T	possibly damaging	Het
Aqp2	G	A	15: 99,579,420	V90M	possibly damaging	Het
Atf6	T	C	1: 170,853,002		probably benign	Het
Cdh3	T	C	8: 106,547,669	Y607H	probably damaging	Het
Cer1	T	A	4: 82,882,831	E198D	probably benign	Het
Dscam	A	G	16: 96,652,078		probably null	Het
Ecel1	C	T	1: 87,151,504	R484H	probably damaging	Het
Entpd7	C	A	19: 43,729,839	H575Q	probably benign	Het
F11r	T	C	1: 171,462,909	V279A	probably damaging	Het
Gm17093	T	A	14: 44,521,665		probably benign	Het
Gpn1	T	C	5: 31,507,538	V302A	probably benign	Het
Hivep1	G	T	13: 42,158,017	K1244N	probably damaging	Het
Idh3b	T	C	2: 130,281,897	T116A	possibly damaging	Het
Itgb4	C	A	11: 116,006,457		probably benign	Het
Mybl1	G	T	1: 9,672,647	L579I	probably damaging	Het
Myh14	T	A	7: 44,614,358	T1694S	probably null	Het
Mylk3	T	C	8: 85,336,401	D537G	probably damaging	Het
Myo1d	A	C	11: 80,674,839	F387V	probably damaging	Het
Nek9	T	C	12: 85,314,587	Y448C	probably benign	Het
Olfr1090	A	T	2: 86,754,164	H191Q	probably benign	Het
Paxbp1	T	C	16: 91,035,916		probably benign	Het
Retreg2	T	A	1: 75,145,105		probably null	Het
Ripply3	G	A	16: 94,328,543	C16Y	possibly damaging	Het
Robo3	G	A	9: 37,419,111		probably benign	Het
Rrm1	C	A	7: 102,457,552		probably benign	Het
Rsad2	T	A	12: 26,448,667	R269S	probably benign	Het
Sbp	A	T	17: 23,945,348		probably benign	Het
Schip1	A	T	3: 68,617,777	Q162L	probably damaging	Het
Senp1	T	C	15: 98,082,263	Y67C	probably damaging	Het
Slc25a25	C	T	2: 32,419,091	R233K	probably damaging	Het
Smoc1	C	A	12: 81,152,751	S220*	probably null	Het
Stab1	C	A	14: 31,148,995	R1299I	probably benign	Het
Stk17b	A	G	1: 53,765,915		probably benign	Het
Tmc7	T	G	7: 118,552,762	D312A	probably damaging	Het
Vmn1r79	T	C	7: 12,176,400	S70P	possibly damaging	Het
Zfc3h1	C	A	10: 115,423,223	T1591K	possibly damaging	Het

Other mutations in Got1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Got1	APN	19	43504609	missense	possibly damaging	0.72
IGL01404:Got1	APN	19	43504609	missense	possibly damaging	0.72
IGL01476:Got1	APN	19	43524409	missense	probably damaging	1.00
IGL01688:Got1	APN	19	43524336	critical splice donor site	probably null
IGL01977:Got1	APN	19	43515845	missense	probably benign	0.00
IGL02353:Got1	APN	19	43524443	missense	probably damaging	1.00
IGL02360:Got1	APN	19	43524443	missense	probably damaging	1.00
IGL02726:Got1	APN	19	43500412	splice site	probably null
F5770:Got1	UTSW	19	43500561	unclassified	probably benign
R0128:Got1	UTSW	19	43524377	missense	probably benign
R0245:Got1	UTSW	19	43504507	splice site	probably benign
R0578:Got1	UTSW	19	43515783	missense	probably benign	0.01
R1116:Got1	UTSW	19	43502974	nonsense	probably null
R1927:Got1	UTSW	19	43515680	critical splice donor site	probably null
R4516:Got1	UTSW	19	43504841	missense	probably damaging	1.00
R4774:Got1	UTSW	19	43502906	critical splice donor site	probably null
R4785:Got1	UTSW	19	43502937	missense	possibly damaging	0.80
R5463:Got1	UTSW	19	43504597	missense	probably benign	0.03
R6612:Got1	UTSW	19	43504803	missense	probably damaging	1.00
R7556:Got1	UTSW	19	43503030	missense	probably damaging	1.00
R7659:Got1	UTSW	19	43504639	missense	probably benign	0.00

Posted On

2013-11-11