Mutagenetix > Incidental Mutation

Incidental Mutation 'R7806:Fggy'

628691

Institutional Source

Beutler Lab

Gene Symbol

Fggy

Ensembl Gene

ENSMUSG00000028573

Gene Name

FGGY carbohydrate kinase domain containing

Synonyms

2310009E04Rik

MMRRC Submission

045861-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95445744-95815176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95489203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 69 (G69E)

Ref Sequence

ENSEMBL: ENSMUSP00000116264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043335] [ENSMUST00000079223] [ENSMUST00000107091] [ENSMUST00000131654] [ENSMUST00000134012] [ENSMUST00000150830] [ENSMUST00000177394]

AlphaFold

A2AJL3

Predicted Effect

silent
Transcript: ENSMUST00000043335

SMART Domains

Protein: ENSMUSP00000043460
Gene: ENSMUSG00000028573

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	12	268	1.7e-29	PFAM
Pfam:FGGY_C	290	373	1.9e-14	PFAM

Predicted Effect

silent
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: ENSMUST00000131654
AA Change: G69E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000116264
Gene: ENSMUSG00000028573
AA Change: G69E

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	12	82	1.6e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134012

SMART Domains

Protein: ENSMUSP00000115859
Gene: ENSMUSG00000028573

Domain	Start	End	E-Value	Type
SCOP:d1bu6o1	20	107	6e-8	SMART
PDB:3L0Q\|B	25	110	2e-24	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000150830

SMART Domains

Protein: ENSMUSP00000115546
Gene: ENSMUSG00000028573

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	12	79	2.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177394

SMART Domains

Protein: ENSMUSP00000134881
Gene: ENSMUSG00000028573

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	12	77	3.9e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (83/85)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	A	8: 125,569,143 (GRCm39)	V144F	probably benign	Het
Aar2	T	A	2: 156,393,031 (GRCm39)	I140N	possibly damaging	Het
Abca15	A	G	7: 119,932,059 (GRCm39)	N104S	probably damaging	Het
Adam22	A	T	5: 8,142,825 (GRCm39)	N803K	probably damaging	Het
Adk	A	G	14: 21,376,679 (GRCm39)	N26S		Het
Ak9	A	C	10: 41,309,080 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,482,487 (GRCm39)	D40G	probably benign	Het
Ankrd65	A	T	4: 155,877,437 (GRCm39)	H316L	probably benign	Het
Cabp7	C	T	11: 4,688,889 (GRCm39)	A194T	probably damaging	Het
Ccdc180	A	C	4: 45,912,801 (GRCm39)	K593N	possibly damaging	Het
Cd80	A	G	16: 38,294,315 (GRCm39)	D66G	probably benign	Het
Cdh5	T	C	8: 104,867,448 (GRCm39)	V575A	probably damaging	Het
Cep350	T	C	1: 155,737,809 (GRCm39)	Q2678R	probably benign	Het
Cideb	G	A	14: 55,992,625 (GRCm39)	T97M	probably damaging	Het
Clca4b	T	C	3: 144,638,157 (GRCm39)	D35G	probably benign	Het
Clpx	T	C	9: 65,207,213 (GRCm39)	V37A	probably benign	Het
Cmya5	A	C	13: 93,230,770 (GRCm39)	S1439R	probably benign	Het
Cndp2	T	A	18: 84,688,945 (GRCm39)	H279L	probably benign	Het
Cngb1	A	T	8: 96,025,432 (GRCm39)		probably null	Het
Cpq	T	A	15: 33,497,443 (GRCm39)	N394K	possibly damaging	Het
Dedd	T	C	1: 171,166,062 (GRCm39)	L60P	probably benign	Het
Dennd3	C	A	15: 73,442,624 (GRCm39)	L1216M	possibly damaging	Het
Dntt	A	T	19: 41,018,071 (GRCm39)	N65I	probably benign	Het
Fap	T	A	2: 62,333,758 (GRCm39)	E662V	probably damaging	Het
Fasn	A	T	11: 120,700,821 (GRCm39)	M2066K	probably benign	Het
Foxc1	G	T	13: 31,992,739 (GRCm39)	G517C	unknown	Het
Gas2l3	A	G	10: 89,249,232 (GRCm39)	Y629H	probably benign	Het
Gcnt2	A	G	13: 41,071,717 (GRCm39)	N120S	probably damaging	Het
Gfpt2	A	G	11: 49,714,142 (GRCm39)	T300A	probably benign	Het
Glud1	A	G	14: 34,065,606 (GRCm39)	R535G	probably damaging	Het
Gm3248	T	A	14: 5,943,883 (GRCm38)	I114L	probably benign	Het
Gm3278	G	A	14: 16,082,211 (GRCm39)		probably null	Het
Gm3402	A	C	5: 146,451,090 (GRCm39)	K44Q	probably damaging	Het
Gm3696	C	G	14: 18,433,094 (GRCm39)	R188S	probably benign	Het
Gm3696	C	A	14: 18,433,095 (GRCm39)	R188M	probably benign	Het
Gmppa	T	C	1: 75,415,581 (GRCm39)	L113P	probably damaging	Het
Gmps	A	G	3: 63,890,091 (GRCm39)		probably null	Het
Gnal	T	A	18: 67,346,145 (GRCm39)	M275K	probably damaging	Het
Gopc	G	C	10: 52,229,525 (GRCm39)	N231K	probably damaging	Het
Gpr152	T	C	19: 4,193,487 (GRCm39)	S343P	probably benign	Het
Gpr17	T	C	18: 32,080,593 (GRCm39)	I157V	probably benign	Het
Grm7	T	A	6: 111,223,314 (GRCm39)	Y451*	probably null	Het
Ikbke	T	C	1: 131,199,635 (GRCm39)	E286G	probably damaging	Het
Inpp5b	A	T	4: 124,678,881 (GRCm39)		probably null	Het
Iqgap2	G	A	13: 95,818,765 (GRCm39)	L664F	probably benign	Het
Kif17	A	G	4: 138,015,507 (GRCm39)	E552G	possibly damaging	Het
Lamtor1	T	A	7: 101,555,220 (GRCm39)	Y5*	probably null	Het
Lpin2	A	G	17: 71,552,166 (GRCm39)	I829V	probably damaging	Het
Lrg1	T	G	17: 56,426,967 (GRCm39)	D335A	probably benign	Het
Lrriq3	T	C	3: 154,804,444 (GRCm39)	Y35H	probably damaging	Het
Mkx	T	A	18: 7,000,607 (GRCm39)	M112L	probably benign	Het
Mlxipl	A	C	5: 135,163,397 (GRCm39)	D760A	possibly damaging	Het
Muc6	T	C	7: 141,217,387 (GRCm39)	T2429A	possibly damaging	Het
N4bp2l2	A	G	5: 150,566,715 (GRCm39)	C134R	unknown	Het
Nanos1	A	G	19: 60,744,972 (GRCm39)	E90G	probably benign	Het
Nckap1	T	C	2: 80,371,843 (GRCm39)	D329G	probably damaging	Het
Or13a18	T	C	7: 140,190,685 (GRCm39)	I194T	probably benign	Het
Or14j9	A	C	17: 37,875,112 (GRCm39)	L30R	probably damaging	Het
Or8b12c	T	C	9: 37,715,872 (GRCm39)	S222P	probably damaging	Het
Or8g51	G	T	9: 38,609,567 (GRCm39)	L32I	probably benign	Het
Osbpl7	A	G	11: 96,946,954 (GRCm39)	H419R	probably benign	Het
Otog	C	T	7: 45,935,200 (GRCm39)	T1395I	probably benign	Het
Pigq	T	A	17: 26,150,700 (GRCm39)	I451F	probably benign	Het
Ptgfrn	A	G	3: 100,984,448 (GRCm39)	V248A	possibly damaging	Het
Rdh19	G	T	10: 127,692,740 (GRCm39)	V136L	probably damaging	Het
Rfesd	T	C	13: 76,156,308 (GRCm39)	T33A	possibly damaging	Het
Rnf213	G	A	11: 119,302,371 (GRCm39)	V432M		Het
Rpl22l1	T	A	3: 28,860,962 (GRCm39)	L60Q	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Samd3	A	G	10: 26,120,425 (GRCm39)	T140A	probably benign	Het
Sbf1	A	G	15: 89,189,623 (GRCm39)	V419A	possibly damaging	Het
Serpinb6a	T	C	13: 34,119,548 (GRCm39)		probably null	Het
Slc22a4	A	G	11: 53,881,476 (GRCm39)	L414P	probably damaging	Het
Smarcd3	A	T	5: 24,798,260 (GRCm39)	V420D	probably benign	Het
Tcaim	A	G	9: 122,663,995 (GRCm39)	D495G	probably damaging	Het
Tep1	A	G	14: 51,074,266 (GRCm39)	V1873A	possibly damaging	Het
Tmcc2	T	C	1: 132,288,527 (GRCm39)	N387D	probably damaging	Het
Tmed8	A	T	12: 87,219,204 (GRCm39)	I322N	probably damaging	Het
Tmod4	A	C	3: 95,034,915 (GRCm39)	D168A	probably benign	Het
Trgc2	A	T	13: 19,491,390 (GRCm39)		probably benign	Het
Trp53bp1	C	T	2: 121,035,542 (GRCm39)	E1520K	probably damaging	Het
Trpv5	T	A	6: 41,651,867 (GRCm39)	I183F	probably damaging	Het
Vmn2r70	A	T	7: 85,208,401 (GRCm39)	I692K	probably benign	Het
Vmn2r87	T	A	10: 130,315,679 (GRCm39)	Y129F	probably benign	Het
Vps8	A	G	16: 21,278,501 (GRCm39)	D253G	probably damaging	Het
Ythdc2	T	C	18: 44,977,353 (GRCm39)	I383T	possibly damaging	Het
Ythdc2	T	C	18: 44,983,491 (GRCm39)	S553P	probably benign	Het
Zfyve26	A	G	12: 79,327,129 (GRCm39)		probably null	Het
Zic1	G	A	9: 91,247,024 (GRCm39)	T16I	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
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
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
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

PCR Primer
(F):5'- GAGTAGAGTCTTCACAGCCTTG -3'
(R):5'- GGCATTCTTAGTCCACCACC -3'

Sequencing Primer
(F):5'- TCCCCTGCCATATGGGATGTG -3'
(R):5'- GGAACCCTTCTACTACAATTAGTGAC -3'

Posted On

2020-06-10