Mutagenetix > Incidental Mutation

Incidental Mutation 'R1178:Gfpt2'

100170

Institutional Source

Beutler Lab

Gene Symbol

Gfpt2

Ensembl Gene

ENSMUSG00000020363

Gene Name

glutamine fructose-6-phosphate transaminase 2

Synonyms

GFAT2

MMRRC Submission

039250-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1178 (G1)

Quality Score

144

Status

Validated

Chromosome

Chromosomal Location

49685005-49729440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49714136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 298 (S298P)

Ref Sequence

ENSEMBL: ENSMUSP00000020629 (fasta)

Gene Model

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

AlphaFold

Q9Z2Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000020629
AA Change: S298P

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020629
Gene: ENSMUSG00000020363
AA Change: S298P

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

Meta Mutation Damage Score

0.0768

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	T	13: 81,588,156 (GRCm39)		probably benign	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Brinp1	C	T	4: 68,680,790 (GRCm39)	G580E	probably damaging	Het
Cep128	G	A	12: 91,226,929 (GRCm39)	T227M	probably damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Dync2h1	C	T	9: 7,101,193 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Gabrg3	C	T	7: 56,384,839 (GRCm39)	V241I	probably benign	Het
Gm6797	T	A	X: 8,508,004 (GRCm39)		noncoding transcript	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Heatr5b	A	G	17: 79,120,698 (GRCm39)	L742P	probably damaging	Het
Hgd	A	G	16: 37,435,756 (GRCm39)	I115V	possibly damaging	Het
Hmgcll1	A	T	9: 76,037,613 (GRCm39)	D169V	probably damaging	Het
Ifi202b	A	T	1: 173,799,788 (GRCm39)	I231K	probably benign	Het
Itpripl1	A	G	2: 126,983,819 (GRCm39)	I101T	probably benign	Het
Kcnj9	A	G	1: 172,150,530 (GRCm39)	V361A	probably benign	Het
Map4k5	G	A	12: 69,863,152 (GRCm39)	T567M	probably damaging	Het
Ncapd3	A	G	9: 26,952,717 (GRCm39)	D82G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or8d2b	A	G	9: 38,789,051 (GRCm39)	E193G	probably damaging	Het
Or8g50	A	G	9: 39,648,642 (GRCm39)	Y177C	probably damaging	Het
Pfn2	C	T	3: 57,752,766 (GRCm39)	V3I	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Plekha2	A	C	8: 25,549,218 (GRCm39)	S189A	probably benign	Het
Prune2	T	C	19: 17,100,469 (GRCm39)	V1991A	probably benign	Het
Psg17	T	C	7: 18,548,380 (GRCm39)	T464A	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab8b	A	G	9: 66,760,249 (GRCm39)	M125T	possibly damaging	Het
Rbl1	T	A	2: 156,989,575 (GRCm39)	M1015L	possibly damaging	Het
Ryr3	T	A	2: 112,794,725 (GRCm39)	Q149L	probably benign	Het
Scn2a	C	A	2: 65,517,123 (GRCm39)		probably benign	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Smcr8	G	A	11: 60,670,358 (GRCm39)	R502H	probably damaging	Het
Spag16	G	A	1: 69,962,817 (GRCm39)		probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Stk25	T	C	1: 93,551,111 (GRCm39)		probably benign	Het
Syngap1	A	G	17: 27,176,779 (GRCm39)	N314D	probably damaging	Het
Tek	T	C	4: 94,692,524 (GRCm39)	C160R	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tll2	T	G	19: 41,081,286 (GRCm39)	D712A	probably damaging	Het
Tmprss13	A	T	9: 45,239,945 (GRCm39)	R84S	unknown	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ubr1	T	A	2: 120,756,510 (GRCm39)	K706*	probably null	Het
Upk2	A	T	9: 44,365,470 (GRCm39)	S33T	probably benign	Het
Usp47	T	G	7: 111,709,205 (GRCm39)	M1317R	possibly damaging	Het
Wdr19	T	C	5: 65,381,208 (GRCm39)	Y411H	probably damaging	Het
Zfp143	C	T	7: 109,674,928 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,384,018 (GRCm39)	D105G	probably benign	Het
Zfp474	C	T	18: 52,771,814 (GRCm39)	Q156*	probably null	Het

Other mutations in Gfpt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00934:Gfpt2	APN	11	49,699,950 (GRCm39)	missense	probably benign	0.00
IGL01451:Gfpt2	APN	11	49,698,517 (GRCm39)	splice site	probably benign
IGL01490:Gfpt2	APN	11	49,717,954 (GRCm39)	splice site	probably benign
IGL01550:Gfpt2	APN	11	49,715,150 (GRCm39)	splice site	probably null
IGL01552:Gfpt2	APN	11	49,695,832 (GRCm39)	nonsense	probably null
IGL02349:Gfpt2	APN	11	49,698,530 (GRCm39)	missense	probably benign	0.02
IGL02815:Gfpt2	APN	11	49,714,084 (GRCm39)	missense	possibly damaging	0.89
plethora	UTSW	11	49,715,268 (GRCm39)	missense	probably damaging	1.00
R0525:Gfpt2	UTSW	11	49,720,602 (GRCm39)	missense	probably benign	0.06
R0539:Gfpt2	UTSW	11	49,723,725 (GRCm39)	missense	probably damaging	1.00
R1055:Gfpt2	UTSW	11	49,718,038 (GRCm39)	missense	probably damaging	1.00
R1340:Gfpt2	UTSW	11	49,723,688 (GRCm39)	missense	probably damaging	1.00
R2372:Gfpt2	UTSW	11	49,698,542 (GRCm39)	missense	probably benign	0.00
R4154:Gfpt2	UTSW	11	49,726,605 (GRCm39)	splice site	probably null
R4476:Gfpt2	UTSW	11	49,715,169 (GRCm39)	missense	probably benign	0.17
R4679:Gfpt2	UTSW	11	49,714,564 (GRCm39)	missense	probably benign	0.00
R4863:Gfpt2	UTSW	11	49,701,797 (GRCm39)	missense	probably benign	0.06
R5113:Gfpt2	UTSW	11	49,714,626 (GRCm39)	missense	probably damaging	1.00
R5509:Gfpt2	UTSW	11	49,717,973 (GRCm39)	missense	possibly damaging	0.75
R5830:Gfpt2	UTSW	11	49,699,888 (GRCm39)	missense	probably benign	0.03
R6435:Gfpt2	UTSW	11	49,726,478 (GRCm39)	missense	probably benign	0.00
R7079:Gfpt2	UTSW	11	49,728,578 (GRCm39)	missense	possibly damaging	0.77
R7135:Gfpt2	UTSW	11	49,695,782 (GRCm39)	missense	probably damaging	1.00
R7261:Gfpt2	UTSW	11	49,714,078 (GRCm39)	missense	possibly damaging	0.77
R7294:Gfpt2	UTSW	11	49,709,435 (GRCm39)	nonsense	probably null
R7384:Gfpt2	UTSW	11	49,701,817 (GRCm39)	missense	possibly damaging	0.56
R7778:Gfpt2	UTSW	11	49,715,268 (GRCm39)	missense	probably damaging	1.00
R7806:Gfpt2	UTSW	11	49,714,142 (GRCm39)	missense	probably benign
R7824:Gfpt2	UTSW	11	49,715,268 (GRCm39)	missense	probably damaging	1.00
R8245:Gfpt2	UTSW	11	49,714,785 (GRCm39)	missense	probably benign	0.01
R8262:Gfpt2	UTSW	11	49,714,607 (GRCm39)	missense	probably benign	0.02
R8437:Gfpt2	UTSW	11	49,695,694 (GRCm39)	intron	probably benign
R8791:Gfpt2	UTSW	11	49,714,043 (GRCm39)	missense	probably benign	0.01
R9072:Gfpt2	UTSW	11	49,714,185 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15