Mutagenetix > Incidental Mutation

Incidental Mutation 'R5113:Gfpt2'

394028

Institutional Source

Beutler Lab

Gene Symbol

Gfpt2

Ensembl Gene

ENSMUSG00000020363

Gene Name

glutamine fructose-6-phosphate transaminase 2

Synonyms

GFAT2

MMRRC Submission

042701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49794178-49838613 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49823799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 342 (R342G)

Ref Sequence

ENSEMBL: ENSMUSP00000020629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020629]

AlphaFold

Q9Z2Z9

Predicted Effect

probably damaging
Transcript: ENSMUST00000020629
AA Change: R342G

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

SMART Domains

Protein: ENSMUSP00000020629
Gene: ENSMUSG00000020363
AA Change: R342G

Domain	Start	End	E-Value	Type
Pfam:GATase_6	72	212	1e-19	PFAM
Pfam:GATase_4	75	206	1.6e-7	PFAM
Pfam:GATase_7	90	209	8.2e-16	PFAM
Pfam:SIS	363	492	1.7e-38	PFAM
Pfam:SIS	534	665	1.2e-29	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,315,995	V622A	possibly damaging	Het
Ankef1	A	G	2: 136,552,441	N590S	probably benign	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Ano3	A	T	2: 110,661,480	N867K	possibly damaging	Het
Ash1l	T	C	3: 89,066,275	V2547A	probably damaging	Het
Ccpg1os	T	A	9: 72,979,893	R111*	probably null	Het
Chil5	A	T	3: 106,017,978	V209E	possibly damaging	Het
Cltc	A	T	11: 86,722,321	C459S	probably damaging	Het
Col6a4	T	A	9: 106,066,960	D1105V	possibly damaging	Het
Cyp2c66	A	G	19: 39,163,438	D199G	probably benign	Het
Cyp4f18	A	G	8: 71,989,058		probably null	Het
Cysrt1	A	T	2: 25,239,351	C50S	possibly damaging	Het
Dapk1	A	G	13: 60,721,778	K278R	probably benign	Het
Eefsec	C	A	6: 88,281,575	S512I	probably damaging	Het
Emilin1	T	C	5: 30,920,620	F908L	possibly damaging	Het
Eml1	T	C	12: 108,537,337	V731A	possibly damaging	Het
Erc2	T	C	14: 27,652,872	S16P	probably benign	Het
Gpr142	A	T	11: 114,804,317	Q36L	probably benign	Het
Grik5	A	G	7: 25,015,527	S681P	probably damaging	Het
Hecw1	A	T	13: 14,346,029	S208T	possibly damaging	Het
Hmgcr	G	A	13: 96,656,732	A464V	probably benign	Het
Igkv2-109	A	G	6: 68,303,085	T97A	possibly damaging	Het
Ino80	G	T	2: 119,431,945	Q687K	probably damaging	Het
Kdm4d	T	C	9: 14,464,113	N150D	probably damaging	Het
Klf4	A	G	4: 55,530,481	I210T	possibly damaging	Het
Klkb1	C	A	8: 45,270,697	Q560H	probably benign	Het
Lce1a2	A	T	3: 92,669,135	V40E	unknown	Het
Maob	T	C	X: 16,716,423	T400A	probably benign	Het
Mipol1	C	T	12: 57,496,499	T393I	probably benign	Het
Mst1	A	G	9: 108,082,247	D244G	probably damaging	Het
Nexn	G	A	3: 152,243,888	R258C	probably damaging	Het
Olfr1353	A	G	10: 78,970,203	I185V	probably benign	Het
Olfr748	A	C	14: 50,710,914	I195L	probably benign	Het
Olfr777	A	G	10: 129,268,666	I219T	probably damaging	Het
Olfr975	T	C	9: 39,949,925	N282S	probably damaging	Het
Optc	T	C	1: 133,900,977		probably benign	Het
Pabpc2	C	A	18: 39,775,383	P567Q	probably benign	Het
Ppm1j	A	G	3: 104,784,674	H324R	possibly damaging	Het
Reg3g	A	T	6: 78,466,561		probably null	Het
Sipa1l1	C	T	12: 82,440,908	A1652V	probably benign	Het
Ski	T	C	4: 155,159,392	T554A	probably benign	Het
Slfn5	G	A	11: 82,961,696	V883M	probably benign	Het
Stradb	T	C	1: 58,991,174		probably benign	Het
Tex19.1	A	G	11: 121,147,799	T328A	probably benign	Het
Tpsab1	T	C	17: 25,345,399	N27S	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttn	A	T	2: 76,812,900	L13225Q	probably damaging	Het
Vmn1r28	A	G	6: 58,265,858	T229A	probably benign	Het
Wapl	A	G	14: 34,724,754	K600E	probably damaging	Het
Zfp217	T	C	2: 170,114,058		probably null	Het

Other mutations in Gfpt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00934:Gfpt2	APN	11	49809123	missense	probably benign	0.00
IGL01451:Gfpt2	APN	11	49807690	splice site	probably benign
IGL01490:Gfpt2	APN	11	49827127	splice site	probably benign
IGL01550:Gfpt2	APN	11	49824323	splice site	probably null
IGL01552:Gfpt2	APN	11	49805005	nonsense	probably null
IGL02349:Gfpt2	APN	11	49807703	missense	probably benign	0.02
IGL02815:Gfpt2	APN	11	49823257	missense	possibly damaging	0.89
plethora	UTSW	11	49824441	missense	probably damaging	1.00
R0525:Gfpt2	UTSW	11	49829775	missense	probably benign	0.06
R0539:Gfpt2	UTSW	11	49832898	missense	probably damaging	1.00
R1055:Gfpt2	UTSW	11	49827211	missense	probably damaging	1.00
R1178:Gfpt2	UTSW	11	49823309	missense	probably benign	0.42
R1340:Gfpt2	UTSW	11	49832861	missense	probably damaging	1.00
R2372:Gfpt2	UTSW	11	49807715	missense	probably benign	0.00
R4154:Gfpt2	UTSW	11	49835778	splice site	probably null
R4476:Gfpt2	UTSW	11	49824342	missense	probably benign	0.17
R4679:Gfpt2	UTSW	11	49823737	missense	probably benign	0.00
R4863:Gfpt2	UTSW	11	49810970	missense	probably benign	0.06
R5509:Gfpt2	UTSW	11	49827146	missense	possibly damaging	0.75
R5830:Gfpt2	UTSW	11	49809061	missense	probably benign	0.03
R6435:Gfpt2	UTSW	11	49835651	missense	probably benign	0.00
R7079:Gfpt2	UTSW	11	49837751	missense	possibly damaging	0.77
R7135:Gfpt2	UTSW	11	49804955	missense	probably damaging	1.00
R7261:Gfpt2	UTSW	11	49823251	missense	possibly damaging	0.77
R7294:Gfpt2	UTSW	11	49818608	nonsense	probably null
R7384:Gfpt2	UTSW	11	49810990	missense	possibly damaging	0.56
R7778:Gfpt2	UTSW	11	49824441	missense	probably damaging	1.00
R7806:Gfpt2	UTSW	11	49823315	missense	probably benign
R7824:Gfpt2	UTSW	11	49824441	missense	probably damaging	1.00
R8245:Gfpt2	UTSW	11	49823958	missense	probably benign	0.01
R8262:Gfpt2	UTSW	11	49823780	missense	probably benign	0.02
R8437:Gfpt2	UTSW	11	49804867	intron	probably benign
R8791:Gfpt2	UTSW	11	49823216	missense	probably benign	0.01
R9072:Gfpt2	UTSW	11	49823358	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACACTCTTTAAAACCTTTGGGG -3'
(R):5'- AATGGTCCTTCAAGCCACC -3'

Sequencing Primer
(F):5'- GGATACTATTATAACTATGGCATGGC -3'
(R):5'- GTCCTTCAAGCCACCCAGGAG -3'

Posted On

2016-06-15