Mutagenetix > Incidental Mutation

Incidental Mutation 'R7808:Gpt'

628590

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

045863-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76580926-76583875 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 76583093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155553 (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 null
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

probably benign
Transcript: ENSMUST00000135388

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

probably null
Transcript: ENSMUST00000229140

Predicted Effect

probably null
Transcript: ENSMUST00000229679

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229734
AA Change: K358E

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000230544

Predicted Effect

probably benign
Transcript: ENSMUST00000230724

Predicted Effect

probably benign
Transcript: ENSMUST00000231028

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (86/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 86,957,297 (GRCm39)	V11A	probably benign	Het
Abca12	A	T	1: 71,313,793 (GRCm39)		probably null	Het
Abcc12	T	A	8: 87,234,568 (GRCm39)	M1232L	probably benign	Het
Adamts1	T	C	16: 85,597,117 (GRCm39)	Y314C	probably damaging	Het
Adgb	A	G	10: 10,254,403 (GRCm39)		probably null	Het
Ankrd12	T	A	17: 66,292,648 (GRCm39)	K928N	possibly damaging	Het
Ano5	A	T	7: 51,237,543 (GRCm39)	K789I	possibly damaging	Het
Cacna1d	G	T	14: 29,833,026 (GRCm39)	N938K	probably damaging	Het
Camk1g	T	C	1: 193,032,593 (GRCm39)	R273G	possibly damaging	Het
Caprin2	C	A	6: 148,744,528 (GRCm39)	V966F	probably damaging	Het
Card6	T	C	15: 5,128,954 (GRCm39)	H814R	probably benign	Het
Cenatac	T	C	9: 44,324,215 (GRCm39)	Q228R	probably null	Het
Cflar	A	G	1: 58,750,740 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,204,204 (GRCm39)	N66K	probably benign	Het
Clasrp	C	T	7: 19,322,671 (GRCm39)		probably null	Het
Clec4a4	T	C	6: 122,967,339 (GRCm39)	I5T	probably damaging	Het
Cmtr2	T	C	8: 110,948,251 (GRCm39)	I187T	possibly damaging	Het
Cnga1	A	T	5: 72,761,616 (GRCm39)	F633I	possibly damaging	Het
Col16a1	C	T	4: 129,967,057 (GRCm39)	P909S	unknown	Het
Csf1	C	A	3: 107,667,361 (GRCm39)	A7S	possibly damaging	Het
Cstpp1	T	C	2: 91,274,939 (GRCm39)		probably benign	Het
Dhx30	A	T	9: 109,915,270 (GRCm39)	V833D	probably benign	Het
Dlg2	T	G	7: 92,080,263 (GRCm39)	I712M	probably benign	Het
Dmxl1	T	A	18: 50,011,382 (GRCm39)	F1180I	probably benign	Het
Dnah9	T	A	11: 65,896,631 (GRCm39)	K2398*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Dync1h1	A	T	12: 110,621,893 (GRCm39)	N3412I	possibly damaging	Het
Dync1i2	T	A	2: 71,081,178 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,047,911 (GRCm39)	S333P	possibly damaging	Het
Eed	A	T	7: 89,605,541 (GRCm39)	N349K	probably benign	Het
Eipr1	A	T	12: 28,816,769 (GRCm39)		probably null	Het
Fbxw16	A	C	9: 109,277,222 (GRCm39)	V40G	probably damaging	Het
Fgfr4	A	C	13: 55,308,969 (GRCm39)	R363S	possibly damaging	Het
Fgl2	A	T	5: 21,578,229 (GRCm39)	N172I	possibly damaging	Het
Fhip1b	G	A	7: 105,033,732 (GRCm39)	R509C	probably damaging	Het
Gabbr2	T	A	4: 46,875,744 (GRCm39)	H126L	possibly damaging	Het
Gcnt2	A	T	13: 41,014,338 (GRCm39)	N170Y	possibly damaging	Het
Igsf10	A	G	3: 59,235,489 (GRCm39)	I1564T	probably benign	Het
Il22ra1	C	A	4: 135,478,107 (GRCm39)	Q393K	possibly damaging	Het
Inpp5d	A	T	1: 87,611,567 (GRCm39)	K340*	probably null	Het
Jcad	A	G	18: 4,673,113 (GRCm39)	K292E	probably damaging	Het
Krt5	T	A	15: 101,617,453 (GRCm39)	T427S	probably benign	Het
Krt76	T	C	15: 101,798,929 (GRCm39)	D252G	probably damaging	Het
Krtap26-1	A	G	16: 88,444,198 (GRCm39)	V141A	not run	Het
Lce6a	A	T	3: 92,527,642 (GRCm39)	V55D	probably benign	Het
Lpxn	C	T	19: 12,802,185 (GRCm39)	S170F	possibly damaging	Het
Magi2	T	C	5: 20,670,838 (GRCm39)	V394A	probably benign	Het
Mbnl1	G	A	3: 60,522,242 (GRCm39)		probably null	Het
Med16	T	A	10: 79,734,252 (GRCm39)	K554M	probably damaging	Het
Mettl14	T	C	3: 123,166,234 (GRCm39)	D276G	possibly damaging	Het
Mphosph9	T	C	5: 124,399,009 (GRCm39)	D1002G	probably damaging	Het
Mroh9	T	C	1: 162,866,678 (GRCm39)	E686G	probably damaging	Het
Nav1	T	C	1: 135,379,986 (GRCm39)	Y1512C	unknown	Het
Neb	T	C	2: 52,082,035 (GRCm39)	Y5712C	probably damaging	Het
Nek7	T	A	1: 138,489,509 (GRCm39)		probably benign	Het
Nptx1	T	A	11: 119,435,462 (GRCm39)	I285F	probably damaging	Het
Oas1d	G	T	5: 121,053,034 (GRCm39)	E30*	probably null	Het
Or1p1b	A	T	11: 74,130,725 (GRCm39)	I112F	probably damaging	Het
Or51g2	A	G	7: 102,622,317 (GRCm39)	V294A	possibly damaging	Het
Or6n1	C	A	1: 173,917,417 (GRCm39)	Y270*	probably null	Het
Parp4	T	G	14: 56,873,205 (GRCm39)	S1150A	possibly damaging	Het
Pinx1	A	T	14: 64,156,741 (GRCm39)	K223*	probably null	Het
Plekha5	T	C	6: 140,529,640 (GRCm39)	L1034S	probably damaging	Het
Ppp4r3a	A	G	12: 101,019,755 (GRCm39)	V400A	possibly damaging	Het
Prtg	A	T	9: 72,749,979 (GRCm39)	I128F	possibly damaging	Het
Rars1	T	C	11: 35,719,534 (GRCm39)	E96G	probably benign	Het
Rhpn1	T	A	15: 75,585,299 (GRCm39)	S551T	probably benign	Het
Selenow	C	T	7: 15,656,176 (GRCm39)		probably null	Het
Serpina9	A	T	12: 103,967,484 (GRCm39)		probably null	Het
Shank3	A	T	15: 89,433,083 (GRCm39)	D1276V	probably damaging	Het
Slc27a6	A	G	18: 58,742,267 (GRCm39)	T494A	probably damaging	Het
Slc34a1	A	C	13: 24,003,317 (GRCm39)	H285P	probably damaging	Het
Slc6a21	A	C	7: 44,932,360 (GRCm39)	T54P		Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Tal1	T	C	4: 114,925,489 (GRCm39)	V186A	probably benign	Het
Tars3	A	G	7: 65,302,009 (GRCm39)	K178E	probably benign	Het
Tex10	T	A	4: 48,459,984 (GRCm39)	I456L	probably benign	Het
Tfcp2	A	G	15: 100,420,310 (GRCm39)	F175S	probably damaging	Het
Timp2	C	T	11: 118,194,626 (GRCm39)	A188T	probably damaging	Het
Tmc5	T	A	7: 118,268,440 (GRCm39)	I836N	probably damaging	Het
Tmem100	T	A	11: 89,926,302 (GRCm39)	M43K	probably benign	Het
Ulk2	A	G	11: 61,745,378 (GRCm39)	Y9H	probably damaging	Het
Usp7	T	C	16: 8,523,027 (GRCm39)	K311E	probably damaging	Het
Vmn1r238	G	A	18: 3,123,033 (GRCm39)	T127I	probably benign	Het
Vmn2r28	T	C	7: 5,496,678 (GRCm39)	Y58C	probably damaging	Het
Wdr55	G	A	18: 36,893,469 (GRCm39)	G44S	probably benign	Het
Zfp677	C	A	17: 21,617,647 (GRCm39)	H235N	probably damaging	Het
Zfp869	T	A	8: 70,159,636 (GRCm39)	R312S	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
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
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'- TCAACTCATGCTCTCCTGGG -3'
(R):5'- GAAGGAATACATAGCGCCCTG -3'

Sequencing Primer
(F):5'- GGGCAGGTGCGGGTTTC -3'
(R):5'- ACCGGGTTGCAGCGGATC -3'

Posted On

2020-05-12