Mutagenetix > Incidental Mutations

Incidental Mutation 'R8437:Gfpt2'

660651

Institutional Source

Beutler Lab

Gene Symbol

Gfpt2

Ensembl Gene

ENSMUSG00000020363

Gene Name

glutamine fructose-6-phosphate transaminase 2

Synonyms

GFAT2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49794178-49838613 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 49804867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020629 (fasta)

Gene Model

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

AlphaFold

Q9Z2Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000020629

SMART Domains

Protein: ENSMUSP00000020629
Gene: ENSMUSG00000020363

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 79,348,430	Y237H	probably damaging	Het
Adprh	T	C	16: 38,446,087	E231G	probably benign	Het
Anks6	T	C	4: 47,030,705	S631G	probably benign	Het
Bpifa5	T	A	2: 154,165,606	L156H	probably damaging	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
C8b	T	C	4: 104,786,843	Y236H	probably damaging	Het
Celf2	C	T	2: 6,547,145	G508S	probably damaging	Het
Clca1	T	C	3: 145,005,061	T794A	probably benign	Het
Col27a1	T	A	4: 63,319,464		probably benign	Het
Cyp2j12	C	T	4: 96,099,662	C497Y	probably damaging	Het
Dnmt3l	T	C	10: 78,052,768	I168T	possibly damaging	Het
Dtna	C	T	18: 23,590,341	Q201*	probably null	Het
Fetub	T	C	16: 22,934,235	S146P	possibly damaging	Het
Gak	T	G	5: 108,609,406	E242D	probably benign	Het
Ginm1	C	T	10: 7,770,366	C290Y	probably benign	Het
Hepacam	T	C	9: 37,384,710	S386P	probably damaging	Het
Hmcn2	C	A	2: 31,391,076	L1867I	probably benign	Het
Hnrnpa3	T	G	2: 75,662,675	S220A	unknown	Het
Hydin	A	G	8: 110,462,735	E1257G	probably damaging	Het
Ier3ip1	C	T	18: 76,930,178	A18V	probably damaging	Het
Ift140	T	A	17: 25,094,677	C1361S	probably damaging	Het
Il16	T	C	7: 83,652,143	Q955R	probably damaging	Het
Itpr3	T	G	17: 27,107,303	M1349R	probably damaging	Het
Kcnk4	C	T	19: 6,926,234	V316I	probably benign	Het
March6	A	G	15: 31,482,549	I501T	possibly damaging	Het
Msl2	T	A	9: 101,100,968	S180R	probably benign	Het
Muc16	C	T	9: 18,657,924	V1100I	unknown	Het
Nbas	T	C	12: 13,566,250	V2263A	possibly damaging	Het
Olfr1416	C	T	1: 92,480,465	S52N	probably benign	Het
Olfr853	C	T	9: 19,537,537	R131H	probably benign	Het
Pdilt	T	G	7: 119,514,886	I130L	possibly damaging	Het
Phldb3	A	G	7: 24,628,950	T640A	probably damaging	Het
Pole2	G	C	12: 69,204,187	Y467*	probably null	Het
Pxdn	C	T	12: 30,002,044	T740M	probably damaging	Het
Rabac1	T	C	7: 24,972,247	I83V	probably damaging	Het
Rrp7a	T	C	15: 83,117,572	Q245R	probably damaging	Het
Sae1	A	G	7: 16,370,354	V110A	probably damaging	Het
Sema3c	G	T	5: 17,662,938	V116F	probably damaging	Het
Serpina3i	A	G	12: 104,265,704	Y200C	probably damaging	Het
Slc25a45	C	T	19: 5,880,107	T35M	probably benign	Het
Speer4b	C	T	5: 27,498,820	R107Q	probably benign	Het
Sycp2	T	C	2: 178,364,858	T843A	probably damaging	Het
Tecta	T	A	9: 42,332,560	I2004F	probably damaging	Het
Tma16	T	C	8: 66,476,796	D182G	possibly damaging	Het
Topaz1	T	A	9: 122,781,362	Y1167*	probably null	Het
Uck1	C	A	2: 32,260,141		probably benign	Het
Usp25	A	G	16: 77,033,912	T19A	probably damaging	Het
Vpreb2	G	A	16: 17,980,889	G80S	probably damaging	Het
Wdfy4	A	G	14: 33,076,375	C2025R		Het
Zyg11a	T	A	4: 108,217,906	H6L	probably damaging	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
R5113:Gfpt2	UTSW	11	49823799	missense	probably damaging	1.00
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
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'- CGAATGGCAGAGAAGTCCTC -3'
(R):5'- ACTCACCCGCAGAGTCATAG -3'

Sequencing Primer
(F):5'- AGAAGTCCTCTGCTGTGAAAC -3'
(R):5'- AGAGTCATAGCCCCGGTACTC -3'

Posted On

2021-01-22