Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00934:Gfpt2'

28540

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gfpt2

Ensembl Gene

ENSMUSG00000020363

Gene Name

glutamine fructose-6-phosphate transaminase 2

Synonyms

GFAT2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00934

Quality Score

Status

Chromosome

Chromosomal Location

49685005-49729440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 49699950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 102 (V102F)

Ref Sequence

ENSEMBL: ENSMUSP00000020629 (fasta)

Gene Model

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

AlphaFold

Q9Z2Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000020629
AA Change: V102F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000020629
Gene: ENSMUSG00000020363
AA Change: V102F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130129

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	T	3: 59,659,474 (GRCm39)	Y309F	probably benign	Het
Acrv1	T	A	9: 36,605,688 (GRCm39)	H78Q	possibly damaging	Het
Camk2g	C	T	14: 20,787,398 (GRCm39)	G500S	probably damaging	Het
Ccr1	A	G	9: 123,763,777 (GRCm39)	L251P	probably damaging	Het
Dgkb	G	A	12: 38,477,455 (GRCm39)	A622T	probably damaging	Het
Fat4	C	A	3: 38,944,822 (GRCm39)	D1238E	probably damaging	Het
Kif2a	A	C	13: 107,105,301 (GRCm39)		probably benign	Het
Klk1b9	T	C	7: 43,627,878 (GRCm39)	W59R	probably damaging	Het
Lonp1	T	C	17: 56,921,683 (GRCm39)	T875A	probably benign	Het
Mical2	A	G	7: 111,948,610 (GRCm39)	Y802C	probably damaging	Het
Neurl1b	C	A	17: 26,651,152 (GRCm39)	D141E	probably damaging	Het
Or2f1	A	T	6: 42,721,625 (GRCm39)	Y218F	probably damaging	Het
Or51b17	G	T	7: 103,542,071 (GRCm39)	Y290*	probably null	Het
Pcdhga3	A	G	18: 37,808,486 (GRCm39)	E313G	possibly damaging	Het
Usp32	A	T	11: 84,897,902 (GRCm39)	D1146E	probably damaging	Het

Other mutations in Gfpt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1178:Gfpt2	UTSW	11	49,714,136 (GRCm39)	missense	probably benign	0.42
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

Posted On

2013-04-17