Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Fggy'

24316

Institutional Source

Beutler Lab

Gene Symbol

Fggy

Ensembl Gene

ENSMUSG00000028573

Gene Name

FGGY carbohydrate kinase domain containing

Synonyms

2310009E04Rik

MMRRC Submission

038440-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95445744-95815176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95725891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 137 (I137F)

Ref Sequence

ENSEMBL: ENSMUSP00000115688 (fasta)

Gene Model

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

AlphaFold

A2AJL3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079223
AA Change: I432F

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573
AA Change: I432F

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

possibly damaging
Transcript: ENSMUST00000107091
AA Change: I344F

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573
AA Change: I344F

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 damaging
Transcript: ENSMUST00000130541
AA Change: I137F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115688
Gene: ENSMUSG00000028573
AA Change: I137F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147766

Predicted Effect

unknown
Transcript: ENSMUST00000156223
AA Change: I73F

SMART Domains

Protein: ENSMUSP00000118147
Gene: ENSMUSG00000028573
AA Change: I73F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176162

Meta Mutation Damage Score

0.6668

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

69% (18/26)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930522L14Rik	T	C	5: 109,884,713 (GRCm39)	K382E	probably damaging	Het
Adck1	A	G	12: 88,422,280 (GRCm39)	E297G	probably damaging	Het
Aldh3a2	C	T	11: 61,139,714 (GRCm39)	V473I	probably benign	Het
Arfgef3	A	T	10: 18,523,663 (GRCm39)	I369K	possibly damaging	Het
Atp1b3	T	C	9: 96,220,762 (GRCm39)	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,205,956 (GRCm39)	E520G	possibly damaging	Het
BB019430	A	T	10: 58,540,093 (GRCm39)		noncoding transcript	Het
Btbd1	T	A	7: 81,450,751 (GRCm39)	Q343L	probably benign	Het
Catsper1	A	G	19: 5,389,503 (GRCm39)	T473A	possibly damaging	Het
Ccn4	T	C	15: 66,791,059 (GRCm39)	L287P	probably damaging	Het
Chmp6	G	A	11: 119,806,349 (GRCm39)		probably null	Het
Cstdc7	T	A	18: 42,306,608 (GRCm39)	D58E	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,195 (GRCm39)	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,411,105 (GRCm39)		noncoding transcript	Het
Dcaf1	T	A	9: 106,721,344 (GRCm39)	S379T	possibly damaging	Het
Dhx58	T	C	11: 100,586,150 (GRCm39)	I624V	probably benign	Het
Disp3	T	C	4: 148,338,708 (GRCm39)	E821G	probably damaging	Het
Dlc1	T	A	8: 37,066,594 (GRCm39)	E464V	probably damaging	Het
Dnah10	G	A	5: 124,860,898 (GRCm39)	V2151I	probably damaging	Het
Dnah8	G	A	17: 30,967,639 (GRCm39)	G2617D	probably benign	Het
Dnah9	C	A	11: 65,809,630 (GRCm39)	E872*	probably null	Het
Dock9	T	C	14: 121,835,077 (GRCm39)	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,416,071 (GRCm39)	I310F	probably damaging	Het
Gm14012	C	T	2: 128,079,936 (GRCm39)		noncoding transcript	Het
Gm14421	A	T	2: 176,748,515 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,812,685 (GRCm39)		probably null	Het
Incenp	A	G	19: 9,872,243 (GRCm39)	S72P	probably benign	Het
Klc3	T	A	7: 19,128,851 (GRCm39)	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,104,702 (GRCm39)	S88P	probably benign	Het
Lrrc49	G	A	9: 60,587,883 (GRCm39)	T93I	probably benign	Het
Mlycd	A	T	8: 120,134,380 (GRCm39)	Q294L	probably damaging	Het
Mrpl22	T	A	11: 58,062,647 (GRCm39)	I19N	probably benign	Het
Msh3	T	A	13: 92,485,717 (GRCm39)	K202N	probably damaging	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Ncam1	C	T	9: 49,479,709 (GRCm39)	D90N	probably damaging	Het
Nckap5	A	T	1: 125,952,144 (GRCm39)	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,256,955 (GRCm39)		probably null	Het
Nlrp1b	A	T	11: 71,054,925 (GRCm39)	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,553,607 (GRCm39)	N168K	possibly damaging	Het
Or5b96	A	G	19: 12,867,809 (GRCm39)	L44P	probably damaging	Het
Ost4	T	C	5: 31,064,803 (GRCm39)	H26R	probably damaging	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Otogl	A	T	10: 107,710,391 (GRCm39)	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,289,004 (GRCm39)	S282P	probably damaging	Het
Prkcg	G	A	7: 3,377,635 (GRCm39)	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,714,659 (GRCm39)		probably null	Het
Scmh1	T	C	4: 120,387,062 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,391,417 (GRCm39)	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,967,100 (GRCm39)	T5P	probably damaging	Het
Tdp2	A	G	13: 25,022,222 (GRCm39)	M214V	probably damaging	Het
Tmem204	A	G	17: 25,277,324 (GRCm39)	I187T	probably damaging	Het
Tmem208	T	G	8: 106,061,326 (GRCm39)	D117E	probably benign	Het
Tnks1bp1	C	T	2: 84,889,565 (GRCm39)	P631S	possibly damaging	Het
Tomm70a	T	C	16: 56,968,184 (GRCm39)	V517A	probably damaging	Het
Ttc7	T	C	17: 87,687,323 (GRCm39)	V801A	probably damaging	Het
Txndc5	A	T	13: 38,691,929 (GRCm39)	C146S	probably damaging	Het
Ube4b	G	T	4: 149,444,781 (GRCm39)	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008 (GRCm39)	Y504N	probably benign	Het
Ulk3	T	A	9: 57,497,969 (GRCm39)	I90N	probably damaging	Het
Unc13c	T	C	9: 73,602,174 (GRCm39)	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r91	A	C	17: 18,326,399 (GRCm39)	N228T	probably benign	Het
Zbtb6	G	T	2: 37,319,600 (GRCm39)	Y109*	probably null	Het
Zfp640	G	T	13: 66,819,062 (GRCm39)		noncoding transcript	Het
Zfp640	C	A	13: 66,819,038 (GRCm39)		noncoding transcript	Het
Zfp980	A	G	4: 145,428,567 (GRCm39)	D432G	probably benign	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
IGL02967:Fggy	APN	4	95,814,986 (GRCm39)	missense	possibly damaging	0.74
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
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

Predicted Primers

Posted On

2013-04-16