Mutagenetix > Incidental Mutation

Incidental Mutation 'R6165:Gpt'

490113

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

044311-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6165 (G1)

Quality Score

202.009

Status

Validated

Chromosome

Chromosomal Location

76580926-76583875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76582170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 209 (D209G)

Ref Sequence

ENSEMBL: ENSMUSP00000155553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019224] [ENSMUST00000023203] [ENSMUST00000037551] [ENSMUST00000135388] [ENSMUST00000229679] [ENSMUST00000229734] [ENSMUST00000231028] [ENSMUST00000229140] [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 benign
Transcript: ENSMUST00000023203
AA Change: D209G

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546
AA Change: D209G

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

noncoding transcript
Transcript: ENSMUST00000143274

Predicted Effect

probably benign
Transcript: ENSMUST00000229679
AA Change: D209G

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000229734
AA Change: D209G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000231028
AA Change: D209G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228987

Predicted Effect

probably benign
Transcript: ENSMUST00000156920

Predicted Effect

probably benign
Transcript: ENSMUST00000229140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230283

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: ENSMUST00000229018

Meta Mutation Damage Score

0.3874

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.1%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,590,623 (GRCm39)	E303G	possibly damaging	Het
Atosa	A	G	9: 74,932,954 (GRCm39)	T974A	probably damaging	Het
C2cd5	T	C	6: 142,995,954 (GRCm39)	T389A	possibly damaging	Het
Catsperb	T	A	12: 101,542,075 (GRCm39)	Y592N	possibly damaging	Het
Cfap91	A	G	16: 38,154,173 (GRCm39)	F124S	possibly damaging	Het
Cnot9	T	C	1: 74,567,952 (GRCm39)	V280A	probably benign	Het
Cyld	A	G	8: 89,473,561 (GRCm39)	I927V	possibly damaging	Het
Etfdh	A	T	3: 79,512,251 (GRCm39)	S490T	probably benign	Het
Fance	C	T	17: 28,545,068 (GRCm39)	R150C	probably benign	Het
Far1	A	G	7: 113,153,425 (GRCm39)	K353E	probably benign	Het
Fbn1	T	C	2: 125,174,283 (GRCm39)	I1858V	probably damaging	Het
Frem1	T	C	4: 82,874,492 (GRCm39)	K1359E	probably benign	Het
Ghdc	T	G	11: 100,659,928 (GRCm39)	E273A	possibly damaging	Het
Hspb7	T	C	4: 141,149,862 (GRCm39)	F83L	probably benign	Het
Itga7	A	G	10: 128,778,804 (GRCm39)	I306M	probably benign	Het
Itgb5	A	G	16: 33,719,612 (GRCm39)	E261G	probably benign	Het
Kcnj14	G	T	7: 45,469,424 (GRCm39)	A27E	possibly damaging	Het
Kif13b	A	G	14: 64,979,760 (GRCm39)	H470R	probably damaging	Het
Macroh2a1	A	T	13: 56,252,268 (GRCm39)	N108K	probably damaging	Het
Morc3	T	C	16: 93,638,271 (GRCm39)	F18L	probably damaging	Het
Mrgprb8	T	A	7: 48,038,565 (GRCm39)	C79S	possibly damaging	Het
Mroh2b	T	A	15: 4,947,832 (GRCm39)	M549K	probably benign	Het
Msl1	T	C	11: 98,695,673 (GRCm39)	V563A	probably damaging	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Or5b124	A	T	19: 13,610,507 (GRCm39)	I11F	possibly damaging	Het
Or5b124	C	T	19: 13,610,952 (GRCm39)	A159V	probably benign	Het
Phf2	C	A	13: 48,967,341 (GRCm39)		probably null	Het
Pjvk	T	G	2: 76,480,562 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,150,739 (GRCm39)	T66A	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rtkn	G	T	6: 83,122,944 (GRCm39)	E67D	probably damaging	Het
Serpinb9	T	A	13: 33,192,807 (GRCm39)	F121L	possibly damaging	Het
Slc34a1	G	A	13: 23,999,053 (GRCm39)	V149I	probably benign	Het
Sobp	A	G	10: 42,898,599 (GRCm39)	S329P	probably damaging	Het
Syne1	A	T	10: 5,375,678 (GRCm39)	L138Q	probably damaging	Het
Tfr2	T	A	5: 137,578,519 (GRCm39)	V449D	probably damaging	Het
Tmem151b	T	C	17: 45,856,711 (GRCm39)	Y243C	probably damaging	Het
Trank1	T	C	9: 111,220,940 (GRCm39)	V2559A	probably benign	Het
Trim35	T	C	14: 66,546,654 (GRCm39)	Y474H	probably damaging	Het
Uso1	A	T	5: 92,335,126 (GRCm39)	L495F	probably damaging	Het
Wdr24	A	G	17: 26,045,395 (GRCm39)	I377V	probably benign	Het
Xpo5	T	A	17: 46,546,883 (GRCm39)	V878D	possibly damaging	Het
Zfc3h1	A	G	10: 115,256,574 (GRCm39)	I1515V	probably benign	Het
Zfp319	CA	C	8: 96,054,733 (GRCm39)	489	probably null	Het
Zfp384	T	G	6: 125,001,896 (GRCm39)		probably null	Het
Zfp704	G	T	3: 9,508,946 (GRCm39)	P416T	probably benign	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	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
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
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'- TCTGGTTGCACTAACGCTG -3'
(R):5'- ATGCATCACTGACTGGAAAGTC -3'

Sequencing Primer
(F):5'- TTGCACTAACGCTGGGCTC -3'
(R):5'- GATGACGCATAGTACTCG -3'

Posted On

2017-10-10