Mutagenetix > Incidental Mutation

Incidental Mutation 'R7359:Fggy'

571176

Institutional Source

Beutler Lab

Gene Symbol

Fggy

Ensembl Gene

ENSMUSG00000028573

Gene Name

FGGY carbohydrate kinase domain containing

Synonyms

2310009E04Rik

MMRRC Submission

045445-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95445744-95815176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95657717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 286 (V286A)

Ref Sequence

ENSEMBL: ENSMUSP00000043460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043335] [ENSMUST00000079223] [ENSMUST00000107091] [ENSMUST00000130541] [ENSMUST00000131654] [ENSMUST00000134012]

AlphaFold

A2AJL3

Predicted Effect

probably benign
Transcript: ENSMUST00000043335
AA Change: V286A

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043460
Gene: ENSMUSG00000028573
AA Change: V286A

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

probably benign
Transcript: ENSMUST00000079223
AA Change: V286A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573
AA Change: V286A

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: V198A

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573
AA Change: V198A

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

probably benign
Transcript: ENSMUST00000131654

SMART Domains

Protein: ENSMUSP00000116264
Gene: ENSMUSG00000028573

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (87/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,236,348 (GRCm39)	V1233A	possibly damaging	Het
Abcc9	G	A	6: 142,617,408 (GRCm39)	T552I	probably damaging	Het
Adgrf4	T	C	17: 42,978,003 (GRCm39)	I447V	possibly damaging	Het
Akirin2	T	A	4: 34,565,944 (GRCm39)	D178E	probably damaging	Het
Arhgap12	T	C	18: 6,065,709 (GRCm39)	E359G	possibly damaging	Het
Arhgef5	A	C	6: 43,257,216 (GRCm39)	T1256P	probably damaging	Het
Avpr1a	A	C	10: 122,285,283 (GRCm39)	I192L	possibly damaging	Het
B4galnt4	A	G	7: 140,651,197 (GRCm39)	H926R	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc68	C	T	18: 70,089,123 (GRCm39)	A222V	probably benign	Het
Cdc23	T	C	18: 34,774,394 (GRCm39)	Y295C	probably benign	Het
Ceacam10	T	C	7: 24,480,432 (GRCm39)	Y188H	unknown	Het
Cfap57	T	A	4: 118,456,162 (GRCm39)	T511S	probably benign	Het
Cftr	T	C	6: 18,221,623 (GRCm39)	V245A	probably benign	Het
Cit	A	G	5: 116,064,633 (GRCm39)	D505G	probably damaging	Het
Cmah	T	G	13: 24,652,539 (GRCm39)	N556K	probably benign	Het
Cspg4b	T	C	13: 113,478,964 (GRCm39)	S1503P		Het
D430041D05Rik	C	A	2: 104,044,482 (GRCm39)	D839Y	probably damaging	Het
Dek	T	C	13: 47,259,065 (GRCm39)	D47G	unknown	Het
Des	C	T	1: 75,337,596 (GRCm39)	R179C	probably damaging	Het
Desi2	A	G	1: 178,015,509 (GRCm39)	N10D	probably benign	Het
Dlg5	T	C	14: 24,214,615 (GRCm39)	N679S	probably damaging	Het
Dnajc24	T	C	2: 105,832,293 (GRCm39)	Y30C	probably damaging	Het
Dock10	T	A	1: 80,687,065 (GRCm39)	H34L	probably benign	Het
Dock5	A	G	14: 68,003,337 (GRCm39)	V1586A	probably benign	Het
Dpy19l4	A	G	4: 11,273,125 (GRCm39)	V576A	probably benign	Het
Dusp6	A	G	10: 99,099,927 (GRCm39)	E125G	probably benign	Het
Dync1h1	T	C	12: 110,591,036 (GRCm39)	Y1035H	probably benign	Het
Dysf	G	A	6: 84,172,306 (GRCm39)		probably null	Het
En1	A	G	1: 120,534,817 (GRCm39)	K369E	unknown	Het
F2r	A	G	13: 95,741,194 (GRCm39)	Y114H	probably damaging	Het
Fam184a	T	C	10: 53,575,318 (GRCm39)	Y97C	probably damaging	Het
Flot2	T	C	11: 77,949,383 (GRCm39)	I322T	probably benign	Het
Fndc1	A	T	17: 8,032,318 (GRCm39)		probably null	Het
Frs3	A	G	17: 48,010,450 (GRCm39)	D28G	probably damaging	Het
Gimap3	C	T	6: 48,742,280 (GRCm39)	D217N	probably benign	Het
Gm128	A	G	3: 95,147,934 (GRCm39)	V120A	probably benign	Het
Gm17190	T	C	13: 96,218,970 (GRCm39)	V102A	probably damaging	Het
Gm17268	A	G	11: 81,919,057 (GRCm39)	V20A	unknown	Het
Grsf1	A	T	5: 88,813,423 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,278,395 (GRCm39)	Y1699F	probably benign	Het
Hnmt	T	A	2: 23,938,731 (GRCm39)	M36L	probably benign	Het
Hoxd1	C	A	2: 74,594,447 (GRCm39)	T234K	probably damaging	Het
Hydin	C	G	8: 111,232,733 (GRCm39)	S1679R	probably damaging	Het
Jag1	T	C	2: 136,926,226 (GRCm39)	R1059G	probably benign	Het
Kbtbd11	T	C	8: 15,078,858 (GRCm39)	W486R	probably damaging	Het
Kcnh6	A	G	11: 105,909,789 (GRCm39)	D438G	possibly damaging	Het
Lgals4	T	G	7: 28,540,724 (GRCm39)	F276V	probably benign	Het
Lrp6	G	T	6: 134,427,923 (GRCm39)	Y1556*	probably null	Het
Mpdz	G	A	4: 81,274,632 (GRCm39)	L855F	probably benign	Het
Muc16	A	T	9: 18,554,316 (GRCm39)	D3992E	unknown	Het
Npc1	T	C	18: 12,328,237 (GRCm39)	N1024S	probably benign	Het
Nsfl1c	A	G	2: 151,336,279 (GRCm39)	T18A	probably benign	Het
Or12e8	T	A	2: 87,188,555 (GRCm39)	L256I	possibly damaging	Het
Or12k5	A	T	2: 36,895,449 (GRCm39)	M59K	probably damaging	Het
Or2g7	G	A	17: 38,378,506 (GRCm39)	W148*	probably null	Het
Or8g31-ps1	T	C	9: 39,276,775 (GRCm39)	*307R	probably null	Het
Pcdh15	A	T	10: 74,420,048 (GRCm39)	K1235N	probably damaging	Het
Pcif1	A	G	2: 164,726,251 (GRCm39)	K51E	probably damaging	Het
Pde1b	G	A	15: 103,429,752 (GRCm39)	D82N	probably damaging	Het
Phf23	T	A	11: 69,889,467 (GRCm39)	V167E	possibly damaging	Het
Pik3c2g	T	C	6: 139,913,620 (GRCm39)	V1006A	unknown	Het
Pira12	T	A	7: 3,901,103 (GRCm39)		probably benign	Het
Pkhd1l1	G	T	15: 44,452,882 (GRCm39)	V3936F	probably damaging	Het
Pnpla1	T	C	17: 29,100,159 (GRCm39)	V342A	probably benign	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppl	A	G	16: 4,907,205 (GRCm39)	L1030P	possibly damaging	Het
Prelid1	A	T	13: 55,469,088 (GRCm39)		probably benign	Het
Racgap1	C	T	15: 99,529,081 (GRCm39)	S264N	probably benign	Het
Rdh13	T	C	7: 4,430,696 (GRCm39)	D289G	probably benign	Het
Rtp3	T	C	9: 110,815,364 (GRCm39)	I334V	probably benign	Het
Setd2	A	T	9: 110,392,012 (GRCm39)	D200V		Het
Simc1	A	G	13: 54,651,731 (GRCm39)	S15G	unknown	Het
Sirpb1c	A	T	3: 15,887,389 (GRCm39)	M150K	probably benign	Het
Smoc1	T	A	12: 81,197,475 (GRCm39)	D202E	probably damaging	Het
Spata31d1b	A	G	13: 59,860,304 (GRCm39)	Y59C	probably damaging	Het
Stard9	A	G	2: 120,528,761 (GRCm39)	T1673A	probably damaging	Het
Tbc1d31	T	A	15: 57,779,504 (GRCm39)	H72Q	probably benign	Het
Tgfbrap1	C	A	1: 43,114,693 (GRCm39)	V136L	probably damaging	Het
Top2b	A	G	14: 16,407,376 (GRCm38)	N720S	probably null	Het
Vmn1r11	T	C	6: 57,115,184 (GRCm39)	S283P	probably damaging	Het
Vmn1r19	A	G	6: 57,382,080 (GRCm39)	H211R	probably damaging	Het
Vmn2r44	A	T	7: 8,370,538 (GRCm39)	M836K	probably benign	Het
Vmn2r61	A	C	7: 41,915,407 (GRCm39)	H118P	probably benign	Het
Vps33a	A	G	5: 123,696,696 (GRCm39)	I319T	probably benign	Het
Vwf	T	A	6: 125,543,220 (GRCm39)	S151T		Het
Zfp423	T	C	8: 88,508,871 (GRCm39)	N491S	possibly damaging	Het
Zfp626	T	C	7: 27,507,660 (GRCm39)	F23S	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
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

PCR Primer
(F):5'- AATATACTTCCTAGTTTGCCCTTGG -3'
(R):5'- ACAAGTTGGCCACTGGAAAG -3'

Sequencing Primer
(F):5'- GCCCTTGGCTAGCAAGTAAATTTTTG -3'
(R):5'- AGGCTTGGCAAGATCGGTC -3'

Posted On

2019-09-13