Mutagenetix > Incidental Mutation

Incidental Mutation 'R2903:Gpt'

261561

Institutional Source

Beutler Lab

Gene Symbol

Gpt

Ensembl Gene

ENSMUSG00000022546

Gene Name

glutamic pyruvic transaminase, soluble

Synonyms

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

MMRRC Submission

040490-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2903 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76580926-76583875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76582666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 37 (D37G)

Ref Sequence

ENSEMBL: ENSMUSP00000155686 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000023203
AA Change: D277G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546
AA Change: D277G

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

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

possibly damaging
Transcript: ENSMUST00000229734
AA Change: D256G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229140
AA Change: D37G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229679
AA Change: D277G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000231028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230482

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: ENSMUST00000230283

Predicted Effect

probably benign
Transcript: ENSMUST00000156920

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	A	T	14: 34,233,898 (GRCm39)	V131E	unknown	Het
Ccnk	T	C	12: 108,168,647 (GRCm39)		probably benign	Het
Cd276	A	G	9: 58,444,603 (GRCm39)	F123L	probably benign	Het
Ddr2	T	A	1: 169,825,730 (GRCm39)	N290I	probably damaging	Het
Ecpas	A	G	4: 58,828,622 (GRCm39)	V937A	possibly damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Grik3	T	A	4: 125,564,437 (GRCm39)	L473Q	probably damaging	Het
Hsp90b1	A	C	10: 86,539,349 (GRCm39)	I90S	probably damaging	Het
Ift56	T	C	6: 38,378,037 (GRCm39)	V283A	possibly damaging	Het
Ing5	G	A	1: 93,731,710 (GRCm39)		probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kdr	T	C	5: 76,127,069 (GRCm39)	Y307C	probably damaging	Het
Or51t4	A	T	7: 102,598,661 (GRCm39)	M320L	probably benign	Het
Rapgef5	A	G	12: 117,677,854 (GRCm39)	K161R	probably damaging	Het
Rassf10	A	T	7: 112,553,756 (GRCm39)	D119V	possibly damaging	Het
Samhd1	A	T	2: 156,965,335 (GRCm39)	F160Y	possibly damaging	Het
Sh3bp2	T	A	5: 34,700,900 (GRCm39)	C34*	probably null	Het
Six3	A	G	17: 85,931,283 (GRCm39)	E313G	probably damaging	Het
Tas2r118	A	G	6: 23,969,801 (GRCm39)	F87L	possibly damaging	Het
Tmem131	A	G	1: 36,864,378 (GRCm39)	L591P	probably damaging	Het
Trav17	A	C	14: 54,044,123 (GRCm39)	S10R	probably benign	Het
Ttll3	T	C	6: 113,384,284 (GRCm39)	F534S	probably damaging	Het
Umodl1	T	A	17: 31,211,147 (GRCm39)	V890E	probably damaging	Het
Uso1	G	A	5: 92,343,294 (GRCm39)		probably null	Het
Utrn	A	G	10: 12,519,172 (GRCm39)	I2260T	probably damaging	Het
Vav1	A	G	17: 57,613,187 (GRCm39)	N620D	probably benign	Het

Other mutations in Gpt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01434:Gpt	APN	15	76,582,982 (GRCm39)	missense	probably damaging	1.00
IGL02061:Gpt	APN	15	76,583,617 (GRCm39)	unclassified	probably benign
IGL03027:Gpt	APN	15	76,582,289 (GRCm39)	unclassified	probably benign
R2091:Gpt	UTSW	15	76,582,176 (GRCm39)	missense	possibly damaging	0.87
R3835:Gpt	UTSW	15	76,582,783 (GRCm39)	missense	probably damaging	1.00
R4496:Gpt	UTSW	15	76,582,663 (GRCm39)	missense	probably damaging	1.00
R4855:Gpt	UTSW	15	76,583,485 (GRCm39)	missense	probably damaging	0.99
R4932:Gpt	UTSW	15	76,583,040 (GRCm39)	missense	probably benign	0.05
R5970:Gpt	UTSW	15	76,583,552 (GRCm39)	splice site	probably null
R6165:Gpt	UTSW	15	76,582,170 (GRCm39)	missense	probably benign	0.28
R6914:Gpt	UTSW	15	76,581,792 (GRCm39)	missense	probably benign
R7204:Gpt	UTSW	15	76,583,199 (GRCm39)	missense	probably benign	0.00
R7397:Gpt	UTSW	15	76,582,717 (GRCm39)	missense	probably benign	0.05
R7654:Gpt	UTSW	15	76,582,530 (GRCm39)	missense	probably benign	0.37
R7808:Gpt	UTSW	15	76,583,093 (GRCm39)	splice site	probably null
R8057:Gpt	UTSW	15	76,580,972 (GRCm39)	intron	probably benign
R8389:Gpt	UTSW	15	76,583,242 (GRCm39)	missense	probably damaging	1.00
R9330:Gpt	UTSW	15	76,581,215 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TGCATCTTCACACTCCAGGG -3'
(R):5'- AGCATGAGTTGAGGCTGGTC -3'

Sequencing Primer
(F):5'- TTCACACTCCAGGGCAGGTG -3'
(R):5'- AGTGACTGAGAGTCCTCTAGC -3'

Posted On

2015-01-23