Mutagenetix > Incidental Mutation

Incidental Mutation 'R3835:Gpt'

275604

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

040890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3835 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76580926-76583875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76582783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 295 (Y295C)

Ref Sequence

ENSEMBL: ENSMUSP00000155491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019224] [ENSMUST00000023203] [ENSMUST00000036852] [ENSMUST00000037551] [ENSMUST00000135388] [ENSMUST00000229140] [ENSMUST00000229679] [ENSMUST00000229734] [ENSMUST00000150399] [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 damaging
Transcript: ENSMUST00000023203
AA Change: Y316C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546
AA Change: Y316C

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 damaging
Transcript: ENSMUST00000229140
AA Change: Y76C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229679
AA Change: Y316C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229734
AA Change: Y295C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230468

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: ENSMUST00000229340

Predicted Effect

probably benign
Transcript: ENSMUST00000230724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229018

Predicted Effect

probably benign
Transcript: ENSMUST00000231028

Meta Mutation Damage Score

0.4792

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (43/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,216,254 (GRCm39)	I479T	probably damaging	Het
Adh6a	G	A	3: 138,033,275 (GRCm39)		probably null	Het
Anapc7	A	G	5: 122,581,940 (GRCm39)	T528A	possibly damaging	Het
Ap5b1	A	G	19: 5,618,918 (GRCm39)	T113A	possibly damaging	Het
Apaf1	G	A	10: 90,895,449 (GRCm39)	R439C	probably benign	Het
Apoa5	A	T	9: 46,181,878 (GRCm39)	H318L	probably damaging	Het
Bltp2	A	G	11: 78,169,911 (GRCm39)	R1545G	probably benign	Het
Btnl9	T	G	11: 49,071,512 (GRCm39)	T104P	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Dennd5a	T	C	7: 109,533,449 (GRCm39)	K107R	probably benign	Het
Dthd1	A	T	5: 63,007,128 (GRCm39)	R610W	probably damaging	Het
Eno1	T	C	4: 150,331,119 (GRCm39)	S186P	probably benign	Het
Gipc2	C	A	3: 151,833,823 (GRCm39)	V153F	probably damaging	Het
Kcnh5	T	A	12: 74,945,044 (GRCm39)	Q735L	probably benign	Het
Lrrc10	A	G	10: 116,881,691 (GRCm39)	N122D	possibly damaging	Het
Lrrc37	C	A	11: 103,510,836 (GRCm39)	L377F	unknown	Het
Meis2	T	C	2: 115,752,228 (GRCm39)	H301R	probably damaging	Het
Muc5b	A	T	7: 141,412,918 (GRCm39)	I1955F	unknown	Het
Nalcn	A	T	14: 123,530,834 (GRCm39)		probably benign	Het
Nmt2	T	C	2: 3,315,723 (GRCm39)		probably benign	Het
Nnt	C	T	13: 119,509,031 (GRCm39)	G403R	probably damaging	Het
Or4a79	T	G	2: 89,551,799 (GRCm39)	I219L	possibly damaging	Het
Or4d6	T	A	19: 12,086,764 (GRCm39)	I49F	possibly damaging	Het
Or5b109	A	T	19: 13,212,103 (GRCm39)	D163V	probably benign	Het
Ovgp1	A	G	3: 105,893,631 (GRCm39)	E468G	probably benign	Het
Pax6	G	A	2: 105,526,795 (GRCm39)	E234K	probably benign	Het
Prkdc	A	G	16: 15,609,810 (GRCm39)	E3138G	probably damaging	Het
Prmt6	T	C	3: 110,158,121 (GRCm39)	D56G	possibly damaging	Het
Ptprt	A	G	2: 161,389,307 (GRCm39)	V1261A	probably damaging	Het
Qtrt2	A	G	16: 43,701,435 (GRCm39)	S42P	probably damaging	Het
Rab9b	C	T	X: 135,762,259 (GRCm39)	R47Q	possibly damaging	Het
Rpgrip1	A	G	14: 52,384,710 (GRCm39)	E606G	probably damaging	Het
Setx	C	T	2: 29,035,072 (GRCm39)	S519L	possibly damaging	Het
Slc15a2	A	T	16: 36,592,490 (GRCm39)	C191*	probably null	Het
Snrk	T	C	9: 121,966,069 (GRCm39)		probably benign	Het
St6galnac1	T	C	11: 116,657,109 (GRCm39)	D422G	probably damaging	Het
Stag1	C	T	9: 100,620,035 (GRCm39)	T46I	probably damaging	Het
Tagln	T	C	9: 45,843,008 (GRCm39)	I18V	probably benign	Het
Tasor2	T	C	13: 3,625,292 (GRCm39)	T1553A	probably benign	Het
Tbx18	C	A	9: 87,611,689 (GRCm39)	A114S	probably benign	Het
Ttc16	T	C	2: 32,659,322 (GRCm39)	D259G	probably damaging	Het
Vldlr	A	G	19: 27,212,214 (GRCm39)	D76G	probably damaging	Het
Vmn2r24	G	T	6: 123,764,412 (GRCm39)	D430Y	probably benign	Het
Xlr3a	T	C	X: 72,138,644 (GRCm39)	E5G	probably damaging	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
R2903:Gpt	UTSW	15	76,582,666 (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'- CTCTTCCTGATGGCTGATGAG -3'
(R):5'- TCGGCATCCATGTTTACCAC -3'

Sequencing Primer
(F):5'- CCTGATGGCTGATGAGGTACAC -3'
(R):5'- ATCCATGTTTACCACTTCCACATAG -3'

Posted On

2015-04-06