Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02061:Gpt'

185425

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpt

Ensembl Gene

ENSMUSG00000022546

Gene Name

glutamic pyruvic transaminase, soluble

Synonyms

1300007J06Rik, Gpt1, Gpt-1, 2310022B03Rik, ALT

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02061

Quality Score

Status

Chromosome

Chromosomal Location

76695716-76699686 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 76699417 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019224] [ENSMUST00000023203] [ENSMUST00000036852] [ENSMUST00000037551] [ENSMUST00000135388] [ENSMUST00000150399] [ENSMUST00000229140] [ENSMUST00000229679] [ENSMUST00000229734] [ENSMUST00000230544] [ENSMUST00000230724] [ENSMUST00000231028]

AlphaFold

Q8QZR5

Predicted Effect

probably benign
Transcript: ENSMUST00000019224

SMART Domains

Protein: ENSMUSP00000019224
Gene: ENSMUSG00000019080

Domain	Start	End	E-Value	Type
Pfam:MFS_1	8	373	3e-16	PFAM
transmembrane domain	388	407	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000023203

SMART Domains

Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	83	484	7.8e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036852

SMART Domains

Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762

Domain	Start	End	E-Value	Type
Pfam:Drc1-Sld2	4	132	2.8e-14	PFAM
low complexity region	169	187	N/A	INTRINSIC
low complexity region	368	379	N/A	INTRINSIC
ZnF_C2HC	394	410	5.67e-5	SMART
DEXDc	494	701	5.86e-28	SMART
HELICc	736	831	1.48e-24	SMART
Blast:DEXDc	902	1117	3e-46	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000037551

SMART Domains

Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819

Domain	Start	End	E-Value	Type
ANK	70	99	2.5e3	SMART
ANK	103	132	3.41e-3	SMART
ANK	136	165	2.66e-5	SMART
ANK	231	260	2.58e-3	SMART
ANK	264	293	4.03e-5	SMART
low complexity region	323	346	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134449

Predicted Effect

probably benign
Transcript: ENSMUST00000135388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140730

Predicted Effect

probably benign
Transcript: ENSMUST00000150399

SMART Domains

Protein: ENSMUSP00000123458
Gene: ENSMUSG00000033819

Domain	Start	End	E-Value	Type
ANK	70	99	2.5e3	SMART
ANK	103	132	3.41e-3	SMART
ANK	136	165	2.66e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229098

Predicted Effect

probably benign
Transcript: ENSMUST00000229140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229340

Predicted Effect

probably benign
Transcript: ENSMUST00000229679

Predicted Effect

probably benign
Transcript: ENSMUST00000229734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230283

Predicted Effect

probably benign
Transcript: ENSMUST00000230544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230482

Predicted Effect

probably benign
Transcript: ENSMUST00000230724

Predicted Effect

probably benign
Transcript: ENSMUST00000231028

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009]
PHENOTYPE: Electrophoretic variants are detected in C57BL/6, BALB/c and DBA/2 (a allele); in MA/J and NZB/Bl (b allele). M. m. molossinus and M. m. castaneus have either the b or c allele. In liver, GPT1 activity rises dramatically at 12-19 days to adult levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	T	A	13: 113,794,657	D3E	probably benign	Het
Atp4a	A	G	7: 30,715,029	Y159C	probably damaging	Het
Card10	A	G	15: 78,778,215	F861S	probably damaging	Het
Ccdc85c	A	G	12: 108,221,743	V279A	probably damaging	Het
Cndp1	G	A	18: 84,634,626	R136W	probably damaging	Het
Eif2b3	A	G	4: 117,028,411	E50G	possibly damaging	Het
Eva1c	C	T	16: 90,866,275	Q67*	probably null	Het
Exoc1	A	G	5: 76,542,120	E169G	probably damaging	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fsd2	T	A	7: 81,540,424	K537*	probably null	Het
Gbf1	T	G	19: 46,279,258	S1236A	possibly damaging	Het
Gsap	A	G	5: 21,281,611		probably benign	Het
Hdac6	A	C	X: 7,943,639		probably null	Het
Ivns1abp	T	A	1: 151,351,573	L44Q	probably damaging	Het
Kcnt1	T	A	2: 25,900,482		probably null	Het
Kdm2b	A	G	5: 122,883,341	I58T	probably damaging	Het
Mrpl23	C	T	7: 142,540,582	P76S	probably benign	Het
Nbea	A	G	3: 55,717,887	I2261T	possibly damaging	Het
Oasl1	G	A	5: 114,923,592	V61M	probably damaging	Het
Olfr1288	T	A	2: 111,479,269	F162I	possibly damaging	Het
Pabpc2	A	G	18: 39,774,993	Q437R	probably benign	Het
Ppp1r26	T	A	2: 28,450,627	C90S	possibly damaging	Het
Ppp3ca	A	G	3: 136,797,863	T66A	probably benign	Het
Prss55	A	G	14: 64,075,743	Y231H	possibly damaging	Het
Psmb10	T	C	8: 105,937,711	T38A	probably damaging	Het
Rfx5	A	G	3: 94,958,481	T364A	probably benign	Het
Scgb2b26	T	C	7: 33,943,185	N107S	probably benign	Het
Seh1l	A	G	18: 67,787,258		probably benign	Het
Sod1	T	A	16: 90,225,238	H111Q	probably benign	Het
Thbs2	A	T	17: 14,679,914	D592E	probably benign	Het
Tmem67	G	A	4: 12,053,526	A740V	probably damaging	Het
Tra2a	A	G	6: 49,249,098	V136A	possibly damaging	Het
Ttc37	T	A	13: 76,129,541		probably null	Het
Utp18	T	C	11: 93,882,141	D158G	probably benign	Het
Zfp524	A	G	7: 5,017,872	E133G	probably damaging	Het

Other mutations in Gpt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01434:Gpt	APN	15	76698782	missense	probably damaging	1.00
IGL03027:Gpt	APN	15	76698089	unclassified	probably benign
R2091:Gpt	UTSW	15	76697976	missense	possibly damaging	0.87
R2903:Gpt	UTSW	15	76698466	missense	probably damaging	1.00
R3835:Gpt	UTSW	15	76698583	missense	probably damaging	1.00
R4496:Gpt	UTSW	15	76698463	missense	probably damaging	1.00
R4855:Gpt	UTSW	15	76699285	missense	probably damaging	0.99
R4932:Gpt	UTSW	15	76698840	missense	probably benign	0.05
R5970:Gpt	UTSW	15	76699352	splice site	probably null
R6165:Gpt	UTSW	15	76697970	missense	probably benign	0.28
R6914:Gpt	UTSW	15	76697592	missense	probably benign
R7204:Gpt	UTSW	15	76698999	missense	probably benign	0.00
R7397:Gpt	UTSW	15	76698517	missense	probably benign	0.05
R7654:Gpt	UTSW	15	76698330	missense	probably benign	0.37
R7808:Gpt	UTSW	15	76698893	splice site	probably null
R8057:Gpt	UTSW	15	76696772	intron	probably benign
R8389:Gpt	UTSW	15	76699042	missense	probably damaging	1.00
R9330:Gpt	UTSW	15	76697015	missense	possibly damaging	0.93

Posted On

2014-05-07