Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02967:Fggy'

365630

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02967

Quality Score

Status

Chromosome

Chromosomal Location

95445744-95815176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 95814986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 535 (F535C)

Ref Sequence

ENSEMBL: ENSMUSP00000078216 (fasta)

Gene Model

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

AlphaFold

A2AJL3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079223
AA Change: F535C

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573
AA Change: F535C

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
AA Change: F447C

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573
AA Change: F447C

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,328,291 (GRCm39)	T3455A	probably damaging	Het
Abca8a	G	A	11: 109,941,762 (GRCm39)	P1169L	probably damaging	Het
Ablim3	T	A	18: 61,959,574 (GRCm39)	K272*	probably null	Het
Abtb3	A	G	10: 85,469,646 (GRCm39)	T856A	probably benign	Het
Acin1	A	G	14: 54,880,210 (GRCm39)	V574A	possibly damaging	Het
Acot4	A	T	12: 84,090,235 (GRCm39)	I311L	probably benign	Het
Akap9	C	T	5: 4,026,164 (GRCm39)	A1273V	probably benign	Het
Ap1g2	T	A	14: 55,342,479 (GRCm39)		probably benign	Het
Apob	A	T	12: 8,065,366 (GRCm39)	K4112*	probably null	Het
Aspdh	A	G	7: 44,114,963 (GRCm39)		probably null	Het
Atf7ip	T	C	6: 136,583,725 (GRCm39)	I1252T	probably damaging	Het
Avpr1a	A	G	10: 122,285,367 (GRCm39)	T220A	possibly damaging	Het
Bdp1	A	G	13: 100,178,778 (GRCm39)	F1856S	possibly damaging	Het
Cit	A	T	5: 116,083,896 (GRCm39)	N743I	probably benign	Het
Clvs2	T	C	10: 33,471,784 (GRCm39)	K174E	probably damaging	Het
Cyp4f40	A	T	17: 32,893,222 (GRCm39)	Q351L	probably damaging	Het
Dmbt1	G	T	7: 130,672,919 (GRCm39)	V550L	possibly damaging	Het
Edem1	T	G	6: 108,813,738 (GRCm39)	S178A	probably damaging	Het
Fam222b	C	T	11: 78,044,934 (GRCm39)	A165V	probably benign	Het
Fer	T	C	17: 64,203,262 (GRCm39)	V64A	possibly damaging	Het
Fkbp15	A	T	4: 62,222,627 (GRCm39)	S1091T	probably damaging	Het
Fstl5	G	A	3: 76,229,498 (GRCm39)	V100M	probably damaging	Het
Fut7	G	T	2: 25,315,155 (GRCm39)	V91L	probably damaging	Het
Gemin4	A	T	11: 76,103,067 (GRCm39)	C565S	probably damaging	Het
Gzmm	C	T	10: 79,530,897 (GRCm39)	T233I	possibly damaging	Het
Hps5	A	T	7: 46,418,804 (GRCm39)	L789Q	possibly damaging	Het
Krt32	G	A	11: 99,974,876 (GRCm39)	S357F	possibly damaging	Het
Lrig2	C	T	3: 104,401,512 (GRCm39)		probably benign	Het
Lrp8	C	A	4: 107,718,431 (GRCm39)	Q678K	probably benign	Het
Mmp27	C	A	9: 7,571,591 (GRCm39)	Q45K	probably benign	Het
Myh1	A	G	11: 67,099,896 (GRCm39)	D602G	possibly damaging	Het
Ncoa1	G	T	12: 4,345,294 (GRCm39)	H684Q	probably damaging	Het
Nol9	T	C	4: 152,125,559 (GRCm39)	V170A	possibly damaging	Het
Notch2	A	G	3: 98,053,460 (GRCm39)	D2041G	probably damaging	Het
Nrg3	G	T	14: 38,390,256 (GRCm39)		probably benign	Het
Nuak1	T	A	10: 84,276,085 (GRCm39)	H46L	probably damaging	Het
Pdzd2	G	T	15: 12,374,427 (GRCm39)	Q1903K	probably benign	Het
Pik3c2g	T	C	6: 139,913,554 (GRCm39)	V616A	probably damaging	Het
Ppp6c	A	G	2: 39,116,229 (GRCm39)	Y9H	probably damaging	Het
Prdm11	A	T	2: 92,843,234 (GRCm39)	F75Y	probably damaging	Het
Prelid1	G	A	13: 55,472,219 (GRCm39)	V132I	probably benign	Het
Prom1	A	G	5: 44,201,740 (GRCm39)	S227P	probably damaging	Het
Psmb5	G	A	14: 54,854,083 (GRCm39)	R132C	probably benign	Het
Pus10	A	G	11: 23,668,602 (GRCm39)	N360D	probably damaging	Het
Pygm	G	A	19: 6,443,868 (GRCm39)	V610M	probably damaging	Het
Setd1a	A	G	7: 127,384,349 (GRCm39)		probably benign	Het
Sfmbt1	T	A	14: 30,538,759 (GRCm39)	W793R	probably damaging	Het
Slc25a4	A	G	8: 46,662,187 (GRCm39)	L157P	probably damaging	Het
Sost	T	G	11: 101,855,084 (GRCm39)	E75A	possibly damaging	Het
Tdrd9	A	G	12: 111,958,922 (GRCm39)	S119G	possibly damaging	Het
Tepsin	A	G	11: 119,984,954 (GRCm39)	I238T	probably benign	Het
Tfr2	T	A	5: 137,581,081 (GRCm39)	L507*	probably null	Het
Tmem106a	T	C	11: 101,477,121 (GRCm39)	I110T	possibly damaging	Het
Tmem38a	A	T	8: 73,339,926 (GRCm39)	D298V	possibly damaging	Het
Tmprss12	A	T	15: 100,183,262 (GRCm39)	R201S	probably benign	Het
Ugt2b36	T	C	5: 87,238,759 (GRCm39)	T271A	possibly damaging	Het
Virma	T	G	4: 11,514,096 (GRCm39)	V650G	probably benign	Het
Vmn1r220	A	T	13: 23,368,162 (GRCm39)	I178N	probably damaging	Het
Zfp609	A	G	9: 65,604,901 (GRCm39)	S1276P	possibly damaging	Het
Zfp809	A	G	9: 22,146,398 (GRCm39)	Y29C	probably damaging	Het

Other mutations in Fggy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Fggy	APN	4	95,725,865 (GRCm39)	missense	possibly damaging	0.86
IGL02377:Fggy	APN	4	95,511,714 (GRCm39)	unclassified	probably benign
IGL02417:Fggy	APN	4	95,737,846 (GRCm39)	missense	probably benign	0.01
IGL02527:Fggy	APN	4	95,585,306 (GRCm39)	missense	probably damaging	1.00
IGL03053:Fggy	APN	4	95,815,046 (GRCm39)	unclassified	probably benign
IGL03168:Fggy	APN	4	95,815,046 (GRCm39)	unclassified	probably benign
IGL03370:Fggy	APN	4	95,710,301 (GRCm39)	missense	probably damaging	1.00
R0164:Fggy	UTSW	4	95,725,891 (GRCm39)	missense	probably damaging	0.97
R0164:Fggy	UTSW	4	95,725,891 (GRCm39)	missense	probably damaging	0.97
R0312:Fggy	UTSW	4	95,732,422 (GRCm39)	missense	probably damaging	1.00
R0520:Fggy	UTSW	4	95,489,340 (GRCm39)	missense	probably damaging	1.00
R0747:Fggy	UTSW	4	95,700,337 (GRCm39)	splice site	probably benign
R0940:Fggy	UTSW	4	95,585,238 (GRCm39)	missense	probably benign	0.40
R1513:Fggy	UTSW	4	95,790,295 (GRCm39)	intron	probably benign
R1746:Fggy	UTSW	4	95,814,965 (GRCm39)	missense	probably damaging	1.00
R2998:Fggy	UTSW	4	95,737,822 (GRCm39)	missense	probably benign	0.01
R3848:Fggy	UTSW	4	95,489,361 (GRCm39)	unclassified	probably benign
R4913:Fggy	UTSW	4	95,585,313 (GRCm39)	critical splice donor site	probably null
R5458:Fggy	UTSW	4	95,814,980 (GRCm39)	missense	probably benign
R5868:Fggy	UTSW	4	95,585,225 (GRCm39)	missense	probably damaging	0.99
R6583:Fggy	UTSW	4	95,489,210 (GRCm39)	missense	probably benign	0.01
R6589:Fggy	UTSW	4	95,485,875 (GRCm39)	missense	probably benign	0.00
R7332:Fggy	UTSW	4	95,511,719 (GRCm39)	missense	probably damaging	0.98
R7359:Fggy	UTSW	4	95,657,717 (GRCm39)	missense	probably benign	0.40
R7453:Fggy	UTSW	4	95,485,927 (GRCm39)	missense	probably damaging	1.00
R7603:Fggy	UTSW	4	95,657,743 (GRCm39)	missense	probably damaging	1.00
R7806:Fggy	UTSW	4	95,489,203 (GRCm39)	missense	probably benign	0.02
R8072:Fggy	UTSW	4	95,732,394 (GRCm39)	missense	possibly damaging	0.75
R8199:Fggy	UTSW	4	95,700,381 (GRCm39)	missense	probably benign	0.10
R8348:Fggy	UTSW	4	95,732,427 (GRCm39)	missense	probably benign	0.11
R8430:Fggy	UTSW	4	95,815,002 (GRCm39)	utr 3 prime	probably benign
R8448:Fggy	UTSW	4	95,732,427 (GRCm39)	missense	probably benign	0.11
R8503:Fggy	UTSW	4	95,790,295 (GRCm39)	intron	probably benign
R8682:Fggy	UTSW	4	95,700,358 (GRCm39)	missense	probably damaging	1.00
R9044:Fggy	UTSW	4	95,732,334 (GRCm39)	missense	probably benign	0.30
R9059:Fggy	UTSW	4	95,688,841 (GRCm39)	nonsense	probably null
X0067:Fggy	UTSW	4	95,585,229 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18