Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02349:Gfpt2'

289442

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02349

Quality Score

Status

Chromosome

Chromosomal Location

49794178-49838613 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49807703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 42 (I42F)

Ref Sequence

ENSEMBL: ENSMUSP00000020629 (fasta)

Gene Model

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

AlphaFold

Q9Z2Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000020629
AA Change: I42F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000020629
Gene: ENSMUSG00000020363
AA Change: I42F

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,406,464	I484V	probably benign	Het
Acly	C	T	11: 100,519,679	E158K	probably benign	Het
Akap3	T	A	6: 126,860,263	D3E	probably benign	Het
Alg8	A	G	7: 97,379,894	N152S	possibly damaging	Het
Ano7	A	G	1: 93,391,490	T323A	probably benign	Het
Bmp1	T	C	14: 70,507,549	Y252C	possibly damaging	Het
Cacnb3	A	T	15: 98,640,961	K159*	probably null	Het
Capns2	T	A	8: 92,902,062	V193D	probably benign	Het
Cct2	A	G	10: 117,053,139	I48T	probably benign	Het
Cep152	A	G	2: 125,594,956	S555P	probably damaging	Het
Col5a3	T	C	9: 20,772,361	E1533G	unknown	Het
Cyp17a1	A	G	19: 46,667,497	L451P	probably damaging	Het
D1Ertd622e	A	G	1: 97,646,052	L96P	probably damaging	Het
Dgcr8	T	C	16: 18,280,306	E407G	possibly damaging	Het
Dhx57	T	A	17: 80,255,571	N876Y	probably damaging	Het
Dnah7b	T	A	1: 46,099,503	L235*	probably null	Het
Fgfr2	A	G	7: 130,242,606	Y50H	probably damaging	Het
Gars	T	A	6: 55,048,064		probably benign	Het
Glcci1	A	G	6: 8,558,581	K35E	probably damaging	Het
Gpatch1	T	A	7: 35,307,255	M163L	probably damaging	Het
Gpr132	T	C	12: 112,852,855	Y117C	probably damaging	Het
Ints1	G	A	5: 139,768,468	P650S	probably damaging	Het
Itga2b	T	C	11: 102,461,363	D464G	probably damaging	Het
Kansl2	C	A	15: 98,529,446	G185C	probably damaging	Het
Kat6b	T	A	14: 21,637,593	M570K	probably damaging	Het
Map3k19	T	A	1: 127,823,769	D615V	possibly damaging	Het
Map3k7cl	A	G	16: 87,556,013		probably benign	Het
Msto1	A	C	3: 88,910,898	S360R	possibly damaging	Het
Myo15b	C	A	11: 115,863,105		probably benign	Het
Nhlrc2	T	C	19: 56,591,719	V428A	possibly damaging	Het
Olfr33	G	A	7: 102,714,126	R96C	probably damaging	Het
Olfr348	A	C	2: 36,787,046	T174P	possibly damaging	Het
Olfr470	A	G	7: 107,845,605	S43P	probably benign	Het
Olfr568	A	T	7: 102,877,909	Y263F	probably benign	Het
Olfr61	T	C	7: 140,638,471	F257L	probably benign	Het
Olfr874	T	A	9: 37,746,206	M24K	probably benign	Het
Pcm1	G	T	8: 41,288,155		probably null	Het
Plekhg3	A	T	12: 76,562,300	N149I	probably damaging	Het
Rbp3	C	A	14: 33,955,719	H541Q	probably damaging	Het
Rgp1	T	C	4: 43,581,236		probably null	Het
Scyl2	A	T	10: 89,657,938		probably benign	Het
Tas2r144	A	C	6: 42,216,076	H250P	probably benign	Het
Tmppe	T	C	9: 114,405,200	V189A	probably benign	Het
Trp53bp1	G	A	2: 121,199,074	S1875L	probably damaging	Het
Txnl4a	T	A	18: 80,218,729	L60H	probably damaging	Het
Upp2	A	G	2: 58,777,886	D217G	probably benign	Het
Vmn2r74	A	G	7: 85,952,516	L638P	probably damaging	Het
Vnn1	A	G	10: 23,898,503	N148S	possibly damaging	Het
Xrcc1	C	T	7: 24,567,042	Q241*	probably null	Het
Zfp990	A	G	4: 145,530,877		probably benign	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
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
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

Posted On

2015-04-16