Mutagenetix > Incidental Mutation

Incidental Mutation 'R4516:Got1'

332937

Institutional Source

Beutler Lab

Gene Symbol

Got1

Ensembl Gene

ENSMUSG00000025190

Gene Name

glutamic-oxaloacetic transaminase 1, soluble

Synonyms

cytosolic aspartate aminotransferase, Got-1, cAspAT

MMRRC Submission

041760-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43488191-43513044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43493280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 243 (Y243C)

Ref Sequence

ENSEMBL: ENSMUSP00000026196 (fasta)

Gene Model

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

AlphaFold

P05201

Predicted Effect

probably damaging
Transcript: ENSMUST00000026196
AA Change: Y243C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026196
Gene: ENSMUSG00000025190
AA Change: Y243C

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

Meta Mutation Damage Score

0.5425

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.6%
20x: 92.9%

Validation Efficiency

86% (51/59)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bean1	T	C	8: 104,941,786 (GRCm39)	S211P	probably damaging	Het
Bltp1	T	C	3: 36,949,460 (GRCm39)	S369P	possibly damaging	Het
Camta1	A	G	4: 151,229,177 (GRCm39)	S552P	possibly damaging	Het
Cdh11	T	C	8: 103,400,594 (GRCm39)	T125A	possibly damaging	Het
Cdk5rap2	A	T	4: 70,194,952 (GRCm39)		probably null	Het
Cenpc1	A	G	5: 86,195,446 (GRCm39)	S108P	possibly damaging	Het
Cfap20dc	A	T	14: 8,536,609 (GRCm38)	D199E	probably damaging	Het
Cfap44	T	A	16: 44,294,227 (GRCm39)	Y224*	probably null	Het
Cfap46	G	A	7: 139,239,998 (GRCm39)		probably benign	Het
Cntrl	G	A	2: 35,017,993 (GRCm39)	V468I	probably benign	Het
Col6a6	C	T	9: 105,576,148 (GRCm39)	V2071I	possibly damaging	Het
Coq7	A	T	7: 118,109,130 (GRCm39)	L306Q	unknown	Het
D7Ertd443e	C	G	7: 133,895,057 (GRCm39)	Q591H	probably damaging	Het
Dchs1	C	T	7: 105,404,059 (GRCm39)	V2828M	probably damaging	Het
Dzank1	T	A	2: 144,352,042 (GRCm39)		probably benign	Het
Elmo1	C	T	13: 20,467,084 (GRCm39)	T235I	probably benign	Het
Elp3	A	T	14: 65,785,326 (GRCm39)	F492I	possibly damaging	Het
Espl1	A	G	15: 102,231,671 (GRCm39)	S90G	probably benign	Het
Fbxl20	T	C	11: 97,986,061 (GRCm39)		probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Hipk1	G	T	3: 103,657,688 (GRCm39)	H799N	probably damaging	Het
Kif21a	A	T	15: 90,855,345 (GRCm39)	M673K	probably benign	Het
Lama3	T	A	18: 12,628,415 (GRCm39)	D1502E	probably damaging	Het
Limk1	A	G	5: 134,705,640 (GRCm39)		probably benign	Het
Myo5b	A	G	18: 74,758,745 (GRCm39)	Y242C	probably damaging	Het
Naa12	G	A	18: 80,254,791 (GRCm39)	M28I	probably benign	Het
Ncbp1	T	C	4: 46,157,824 (GRCm39)	V354A	probably damaging	Het
Ncoa2	T	C	1: 13,217,130 (GRCm39)	D1380G	probably damaging	Het
Ntng1	A	G	3: 109,842,329 (GRCm39)	I148T	probably damaging	Het
Oas1d	A	T	5: 121,057,233 (GRCm39)	T280S	probably damaging	Het
Or1e29	C	T	11: 73,667,866 (GRCm39)	G96S	probably benign	Het
Or4c15b	T	A	2: 89,113,187 (GRCm39)	M118L	probably benign	Het
Pax7	T	G	4: 139,508,104 (GRCm39)	D307A	probably benign	Het
Pdxdc1	G	A	16: 13,656,210 (GRCm39)	Q621*	probably null	Het
Rab29	A	T	1: 131,795,469 (GRCm39)	Y27F	possibly damaging	Het
Rab3gap2	G	A	1: 184,999,265 (GRCm39)	V991I	probably benign	Het
Ric1	A	G	19: 29,548,165 (GRCm39)	T278A	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc47a1	T	C	11: 61,235,339 (GRCm39)	H498R	probably benign	Het
Spmip6	T	C	4: 41,517,200 (GRCm39)		probably benign	Het
Tas2r116	T	C	6: 132,833,113 (GRCm39)	L238P	probably damaging	Het
Tigd5	A	T	15: 75,782,364 (GRCm39)	R252*	probably null	Het
Tlr6	A	G	5: 65,112,247 (GRCm39)	F220S	possibly damaging	Het
Tmem106b	C	T	6: 13,075,098 (GRCm39)	T95I	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn1r174	A	G	7: 23,453,768 (GRCm39)	I145V	probably benign	Het
Vps26a	T	C	10: 62,304,124 (GRCm39)	M116V	probably damaging	Het

Other mutations in Got1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Got1	APN	19	43,493,048 (GRCm39)	missense	possibly damaging	0.72
IGL01404:Got1	APN	19	43,493,048 (GRCm39)	missense	possibly damaging	0.72
IGL01431:Got1	APN	19	43,491,488 (GRCm39)	nonsense	probably null
IGL01476:Got1	APN	19	43,512,848 (GRCm39)	missense	probably damaging	1.00
IGL01688:Got1	APN	19	43,512,775 (GRCm39)	critical splice donor site	probably null
IGL01977:Got1	APN	19	43,504,284 (GRCm39)	missense	probably benign	0.00
IGL02353:Got1	APN	19	43,512,882 (GRCm39)	missense	probably damaging	1.00
IGL02360:Got1	APN	19	43,512,882 (GRCm39)	missense	probably damaging	1.00
IGL02726:Got1	APN	19	43,488,851 (GRCm39)	splice site	probably null
F5770:Got1	UTSW	19	43,489,000 (GRCm39)	unclassified	probably benign
R0128:Got1	UTSW	19	43,512,816 (GRCm39)	missense	probably benign
R0245:Got1	UTSW	19	43,492,946 (GRCm39)	splice site	probably benign
R0578:Got1	UTSW	19	43,504,222 (GRCm39)	missense	probably benign	0.01
R1116:Got1	UTSW	19	43,491,413 (GRCm39)	nonsense	probably null
R1927:Got1	UTSW	19	43,504,119 (GRCm39)	critical splice donor site	probably null
R4774:Got1	UTSW	19	43,491,345 (GRCm39)	critical splice donor site	probably null
R4785:Got1	UTSW	19	43,491,376 (GRCm39)	missense	possibly damaging	0.80
R5463:Got1	UTSW	19	43,493,036 (GRCm39)	missense	probably benign	0.03
R6612:Got1	UTSW	19	43,493,242 (GRCm39)	missense	probably damaging	1.00
R7556:Got1	UTSW	19	43,491,469 (GRCm39)	missense	probably damaging	1.00
R7659:Got1	UTSW	19	43,493,078 (GRCm39)	missense	probably benign	0.00
R9778:Got1	UTSW	19	43,504,284 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GGACGCTGTCAGACTCTTTTCC -3'
(R):5'- GCTCTGGGTCGAAATTCCTTC -3'

Sequencing Primer
(F):5'- CGACCACGGTCAGATTCC -3'
(R):5'- GGTCGAAATTCCTTCCAGGCAC -3'

Posted On

2015-08-18