Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03053:Fggy'

409161

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fggy

Ensembl Gene

ENSMUSG00000028573

Gene Name

FGGY carbohydrate kinase domain containing

Synonyms

2310009E04Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03053

Quality Score

Status

Chromosome

Chromosomal Location

95557507-95926939 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 95926809 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079223] [ENSMUST00000107091] [ENSMUST00000130541]

Predicted Effect

probably benign
Transcript: ENSMUST00000079223

SMART Domains

Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	12	268	3.3e-27	PFAM
Pfam:FGGY_C	290	498	1.1e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107091

SMART Domains

Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	12	78	1.7e-10	PFAM
Pfam:FGGY_C	202	410	1.5e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130541

SMART Domains

Protein: ENSMUSP00000115688
Gene: ENSMUSG00000028573

Domain	Start	End	E-Value	Type
Pfam:FGGY_C	1	150	3.3e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141248

Predicted Effect

probably benign
Transcript: ENSMUST00000142384

Predicted Effect

probably benign
Transcript: ENSMUST00000156223

SMART Domains

Protein: ENSMUSP00000118147
Gene: ENSMUSG00000028573

Domain	Start	End	E-Value	Type
Pfam:FGGY_C	6	124	8.5e-26	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	A	4: 106,755,853	Q342*	probably null	Het
Arglu1	T	A	8: 8,683,960	I119L	probably benign	Het
Atp1a2	G	A	1: 172,278,356	T914I	probably damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Brwd1	A	T	16: 96,017,677	S1318R	possibly damaging	Het
C1qtnf12	A	T	4: 155,966,464	N297Y	probably damaging	Het
Cbwd1	T	A	19: 24,955,377	E97D	probably damaging	Het
Cyp2a4	A	T	7: 26,313,550		probably benign	Het
Cyp2j7	C	T	4: 96,230,037	M106I	probably benign	Het
Dis3	A	G	14: 99,098,734	V112A	probably benign	Het
Ehd3	A	G	17: 73,805,442	Y67C	probably damaging	Het
Elavl4	A	T	4: 110,251,494	S16T	possibly damaging	Het
F2rl1	A	C	13: 95,513,618	V252G	probably benign	Het
Hc	G	T	2: 35,024,198	N832K	probably benign	Het
Hnf1a	T	A	5: 114,970,733	M38L	probably benign	Het
Kif13a	T	C	13: 46,752,088	N793S	probably benign	Het
Kit	A	G	5: 75,610,914	N244D	probably benign	Het
Mb21d1	A	T	9: 78,437,437	F234Y	probably benign	Het
Mgat5b	A	G	11: 116,923,450	E60G	possibly damaging	Het
Obsl1	T	C	1: 75,493,079	H1098R	probably benign	Het
Olfr1094	A	G	2: 86,829,263	I170M	possibly damaging	Het
Olfr1178	A	G	2: 88,391,594	M116V	probably damaging	Het
Olfr1230	A	C	2: 89,296,445	I275S	probably damaging	Het
Olfr138	A	C	17: 38,274,791	S7R	probably damaging	Het
Olfr166	A	T	16: 19,487,219	H127L	probably benign	Het
Olfr198	A	G	16: 59,202,247	Y60H	probably damaging	Het
Olfr215	T	C	6: 116,582,245	R234G	possibly damaging	Het
Pitpnm2	A	G	5: 124,143,601	I42T	probably damaging	Het
Prkd2	A	G	7: 16,850,263	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,834,166	I3806V	probably benign	Het
Rasgrp2	T	C	19: 6,407,332		probably benign	Het
Rc3h1	T	A	1: 160,955,817	D734E	probably benign	Het
Rtel1	A	G	2: 181,351,944	K619E	probably benign	Het
Tnfrsf26	T	C	7: 143,614,860	D147G	possibly damaging	Het
Ufl1	A	G	4: 25,275,833	I110T	probably damaging	Het
Ugt2b36	A	G	5: 87,092,074	S151P	possibly damaging	Het
Vmn2r25	T	C	6: 123,823,118	Y755C	probably damaging	Het
Zfhx3	T	C	8: 108,946,500	V1394A	probably damaging	Het
Zzef1	G	T	11: 72,831,539		probably benign	Het

Other mutations in Fggy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Fggy	APN	4	95837628	missense	possibly damaging	0.86
IGL02377:Fggy	APN	4	95623477	unclassified	probably benign
IGL02417:Fggy	APN	4	95849609	missense	probably benign	0.01
IGL02527:Fggy	APN	4	95697069	missense	probably damaging	1.00
IGL02967:Fggy	APN	4	95926749	missense	possibly damaging	0.74
IGL03168:Fggy	APN	4	95926809	unclassified	probably benign
IGL03370:Fggy	APN	4	95822064	missense	probably damaging	1.00
R0164:Fggy	UTSW	4	95837654	missense	probably damaging	0.97
R0164:Fggy	UTSW	4	95837654	missense	probably damaging	0.97
R0312:Fggy	UTSW	4	95844185	missense	probably damaging	1.00
R0520:Fggy	UTSW	4	95601103	missense	probably damaging	1.00
R0747:Fggy	UTSW	4	95812100	splice site	probably benign
R0940:Fggy	UTSW	4	95697001	missense	probably benign	0.40
R1513:Fggy	UTSW	4	95902058	intron	probably benign
R1746:Fggy	UTSW	4	95926728	missense	probably damaging	1.00
R2998:Fggy	UTSW	4	95849585	missense	probably benign	0.01
R3848:Fggy	UTSW	4	95601124	unclassified	probably benign
R4913:Fggy	UTSW	4	95697076	critical splice donor site	probably null
R5458:Fggy	UTSW	4	95926743	missense	probably benign
R5868:Fggy	UTSW	4	95696988	missense	probably damaging	0.99
R6583:Fggy	UTSW	4	95600973	missense	probably benign	0.01
R6589:Fggy	UTSW	4	95597638	missense	probably benign	0.00
R7332:Fggy	UTSW	4	95623482	missense	probably damaging	0.98
R7359:Fggy	UTSW	4	95769480	missense	probably benign	0.40
R7453:Fggy	UTSW	4	95597690	missense	probably damaging	1.00
R7603:Fggy	UTSW	4	95769506	missense	probably damaging	1.00
R7806:Fggy	UTSW	4	95600966	missense	probably benign	0.02
R8072:Fggy	UTSW	4	95844157	missense	possibly damaging	0.75
R8199:Fggy	UTSW	4	95812144	missense	probably benign	0.10
R8348:Fggy	UTSW	4	95844190	missense	probably benign	0.11
R8430:Fggy	UTSW	4	95926765	utr 3 prime	probably benign
R8448:Fggy	UTSW	4	95844190	missense	probably benign	0.11
X0067:Fggy	UTSW	4	95696992	missense	probably damaging	1.00

Posted On

2016-08-02