Mutagenetix > Incidental Mutation

Incidental Mutation 'R4496:Gpt'

330992

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

041749-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76580926-76583875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76582663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 276 (Q276L)

Ref Sequence

ENSEMBL: ENSMUSP00000155553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019224] [ENSMUST00000023203] [ENSMUST00000037551] [ENSMUST00000135388] [ENSMUST00000229734] [ENSMUST00000229679] [ENSMUST00000229140] [ENSMUST00000150399] [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: Q276L

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

SMART Domains

Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546
AA Change: Q276L

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

probably damaging
Transcript: ENSMUST00000229734
AA Change: Q255L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229679
AA Change: Q276L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229140
AA Change: Q36L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229856

Predicted Effect

probably benign
Transcript: ENSMUST00000156920

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229098

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: ENSMUST00000230283

Predicted Effect

probably benign
Transcript: ENSMUST00000231028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229340

Meta Mutation Damage Score

0.7403

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (50/50)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,602,947 (GRCm39)	L514H	possibly damaging	Het
Abca7	T	C	10: 79,838,768 (GRCm39)	F647S	probably damaging	Het
Ahi1	A	G	10: 20,841,444 (GRCm39)	K244E	probably benign	Het
Ankhd1	G	A	18: 36,693,839 (GRCm39)	D17N	probably damaging	Het
Arvcf	G	T	16: 18,223,932 (GRCm39)	K890N	probably damaging	Het
Atosa	T	A	9: 74,938,813 (GRCm39)	S1038T	probably damaging	Het
Atp11c	T	C	X: 59,326,104 (GRCm39)	D478G	probably damaging	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Clca3a2	C	T	3: 144,797,926 (GRCm39)	D180N	possibly damaging	Het
Comt	T	C	16: 18,230,437 (GRCm39)		probably null	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Cyp2d11	C	T	15: 82,276,149 (GRCm39)		probably benign	Het
Fam169b	G	T	7: 68,007,954 (GRCm39)	C289F	possibly damaging	Het
Fastkd5	T	C	2: 130,458,501 (GRCm39)	T30A	probably benign	Het
Fchsd2	A	C	7: 100,931,702 (GRCm39)	T753P	probably benign	Het
Gatd3a	T	C	10: 77,999,377 (GRCm39)	I145V	probably damaging	Het
Glis3	G	A	19: 28,643,527 (GRCm39)	S5L	possibly damaging	Het
Gpr158	T	A	2: 21,831,810 (GRCm39)	M970K	probably damaging	Het
Gtf3c3	G	T	1: 54,463,291 (GRCm39)	S302R	probably benign	Het
Hnrnpc	A	G	14: 52,312,888 (GRCm39)	S229P	probably benign	Het
Ikzf5	T	C	7: 130,998,393 (GRCm39)		probably null	Het
Mal2	T	C	15: 54,461,835 (GRCm39)	V110A	probably damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Myo3b	A	G	2: 70,084,748 (GRCm39)	D702G	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nat10	T	A	2: 103,588,084 (GRCm39)	I14F	probably damaging	Het
Nat14	C	T	7: 4,926,918 (GRCm39)	T30M	probably damaging	Het
Ndst4	C	A	3: 125,476,922 (GRCm39)	A49D	probably damaging	Het
Nnt	A	T	13: 119,518,301 (GRCm39)	M292K	probably damaging	Het
Obox7	C	T	7: 14,399,299 (GRCm39)	T175I	probably benign	Het
Or2t26	T	A	11: 49,039,214 (GRCm39)	N43K	possibly damaging	Het
Or6c5c	T	G	10: 129,299,430 (GRCm39)	V295G	possibly damaging	Het
Plekhm3	T	C	1: 64,900,395 (GRCm39)	E634G	probably damaging	Het
Plxdc2	T	A	2: 16,517,040 (GRCm39)	I107K	probably damaging	Het
Psmb10	T	A	8: 106,662,660 (GRCm39)	R226S	probably damaging	Het
Ptprr	T	A	10: 116,065,407 (GRCm39)	V160E	possibly damaging	Het
Sema5a	T	A	15: 32,641,133 (GRCm39)	L649H	probably damaging	Het
Sephs1	T	A	2: 4,911,494 (GRCm39)	I356K	probably benign	Het
Serpinb3d	C	T	1: 107,007,022 (GRCm39)	V229M	probably damaging	Het
Slc7a4	T	C	16: 17,393,676 (GRCm39)	D41G	probably damaging	Het
Sort1	T	C	3: 108,217,461 (GRCm39)	V121A	probably benign	Het
Tcf20	C	A	15: 82,739,185 (GRCm39)	Q755H	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Ttll13	A	T	7: 79,906,667 (GRCm39)	Y445F	probably benign	Het
Usp40	T	C	1: 87,923,459 (GRCm39)	I271V	possibly damaging	Het
Vmn1r72	A	G	7: 11,403,791 (GRCm39)	I219T	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
R3835:Gpt	UTSW	15	76,582,783 (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'- ATGCATCTTCACACTCCAGGG -3'
(R):5'- AGCATGAGTTGAGGCTGGTC -3'

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

Posted On

2015-07-21