Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01977:Fpgt'

181724

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fpgt

Ensembl Gene

ENSMUSG00000053870

Gene Name

fucose-1-phosphate guanylyltransferase

Synonyms

1700016E03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL01977

Quality Score

Status

Chromosome

Chromosomal Location

154790552-154799024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 154793655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 124 (T124K)

Ref Sequence

ENSEMBL: ENSMUSP00000068939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066568]

AlphaFold

G5E8F4

Predicted Effect

probably damaging
Transcript: ENSMUST00000066568
AA Change: T124K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068939
Gene: ENSMUSG00000053870
AA Change: T124K

Domain	Start	End	E-Value	Type
low complexity region	82	92	N/A	INTRINSIC
Pfam:Fucokinase	106	524	1.8e-147	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195505

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream TNNI3 interacting kinase (TNNI3K) gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,841,986 (GRCm39)	S1040T	probably benign	Het
Adam25	T	C	8: 41,208,134 (GRCm39)	Y467H	probably benign	Het
Ank1	A	G	8: 23,605,449 (GRCm39)	I1061V	probably benign	Het
Anxa10	T	C	8: 62,529,348 (GRCm39)	E123G	probably damaging	Het
Arhgap35	G	A	7: 16,297,128 (GRCm39)	L646F	probably damaging	Het
Atp8b5	A	G	4: 43,320,590 (GRCm39)		probably null	Het
Brap	A	G	5: 121,816,910 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,730,993 (GRCm39)	T87A	probably damaging	Het
Ccdc172	A	G	19: 58,541,309 (GRCm39)	D256G	possibly damaging	Het
Cep350	C	T	1: 155,787,714 (GRCm39)	A1375T	probably benign	Het
Chrdl2	A	T	7: 99,671,263 (GRCm39)	Q127L	probably benign	Het
Cyp2c29	T	C	19: 39,279,341 (GRCm39)		probably benign	Het
Ddi1	C	A	9: 6,266,226 (GRCm39)	V48F	probably benign	Het
Ddrgk1	C	T	2: 130,497,166 (GRCm39)		probably benign	Het
Fastkd1	C	T	2: 69,524,932 (GRCm39)	V626I	possibly damaging	Het
Fgd5	A	G	6: 92,001,543 (GRCm39)	T755A	probably benign	Het
Gnl2	G	A	4: 124,941,405 (GRCm39)		probably null	Het
Got1	A	T	19: 43,504,284 (GRCm39)	S46T	probably benign	Het
Hbb-bt	G	T	7: 103,463,070 (GRCm39)	H3N	probably benign	Het
Ikbke	C	T	1: 131,199,838 (GRCm39)		probably benign	Het
Il2rb	A	G	15: 78,365,897 (GRCm39)	S467P	probably benign	Het
Kcnma1	A	G	14: 23,580,367 (GRCm39)		probably benign	Het
Ltbp2	T	C	12: 84,876,973 (GRCm39)	N391D	probably damaging	Het
Npr3	A	T	15: 11,858,804 (GRCm39)	I360N	probably damaging	Het
Nradd	G	A	9: 110,451,237 (GRCm39)	P44S	possibly damaging	Het
Or5m10	G	T	2: 85,717,711 (GRCm39)	C189F	probably damaging	Het
Or7h8	G	A	9: 20,123,755 (GRCm39)	V37I	possibly damaging	Het
Pcdh17	A	G	14: 84,770,537 (GRCm39)	E1005G	possibly damaging	Het
Pcdhb11	A	G	18: 37,555,344 (GRCm39)	T225A	possibly damaging	Het
Pja2	T	C	17: 64,604,821 (GRCm39)	D454G	probably benign	Het
Pon3	T	C	6: 5,221,670 (GRCm39)	Y320C	probably damaging	Het
Prl2a1	A	G	13: 27,990,261 (GRCm39)	D70G	probably damaging	Het
Proc	T	A	18: 32,260,472 (GRCm39)	T218S	probably benign	Het
Proz	G	T	8: 13,116,913 (GRCm39)	G155V	probably damaging	Het
Rab11fip3	T	C	17: 26,286,977 (GRCm39)	E392G	possibly damaging	Het
Rab3gap2	C	T	1: 184,999,220 (GRCm39)	R976*	probably null	Het
Shisa2	G	A	14: 59,867,435 (GRCm39)	C229Y	probably damaging	Het
Slc2a5	T	C	4: 150,226,675 (GRCm39)	V379A	probably damaging	Het
Slc31a2	A	T	4: 62,214,197 (GRCm39)	K47N	probably damaging	Het
Sult2a6	G	A	7: 13,987,411 (GRCm39)	T88I	probably benign	Het
Tbc1d14	T	C	5: 36,662,381 (GRCm39)	Y302C	probably damaging	Het
Thumpd3	C	A	6: 113,036,927 (GRCm39)	N275K	possibly damaging	Het
Tnks2	T	C	19: 36,849,990 (GRCm39)		probably null	Het
Tube1	G	A	10: 39,011,041 (GRCm39)		probably benign	Het
Umodl1	T	A	17: 31,192,742 (GRCm39)	Y290N	probably damaging	Het
Usp34	G	A	11: 23,402,661 (GRCm39)	E726K	probably damaging	Het
Vmn2r84	T	A	10: 130,229,935 (GRCm39)	D59V	probably benign	Het
Vps11	T	A	9: 44,267,516 (GRCm39)		probably benign	Het
Wdr19	T	C	5: 65,385,912 (GRCm39)	Y631H	probably benign	Het
Wdr62	G	A	7: 29,957,526 (GRCm39)	H88Y	probably damaging	Het
Wdr93	A	T	7: 79,402,253 (GRCm39)	N184I	probably damaging	Het
Wnk4	T	A	11: 101,156,240 (GRCm39)	F473Y	probably damaging	Het
Zbtb16	A	G	9: 48,568,483 (GRCm39)	W661R	probably damaging	Het

Other mutations in Fpgt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Fpgt	APN	3	154,797,129 (GRCm39)	missense	possibly damaging	0.92
IGL01412:Fpgt	APN	3	154,792,359 (GRCm39)	missense	probably benign	0.06
IGL01860:Fpgt	APN	3	154,792,483 (GRCm39)	missense	probably benign	0.38
IGL02136:Fpgt	APN	3	154,798,989 (GRCm39)	missense	probably benign
IGL02331:Fpgt	APN	3	154,793,499 (GRCm39)	missense	possibly damaging	0.90
IGL03106:Fpgt	APN	3	154,792,759 (GRCm39)	missense	probably damaging	1.00
PIT4431001:Fpgt	UTSW	3	154,792,422 (GRCm39)	missense	possibly damaging	0.95
R2072:Fpgt	UTSW	3	154,793,511 (GRCm39)	missense	probably damaging	1.00
R4287:Fpgt	UTSW	3	154,796,997 (GRCm39)	unclassified	probably benign
R4607:Fpgt	UTSW	3	154,792,333 (GRCm39)	nonsense	probably null
R4608:Fpgt	UTSW	3	154,792,333 (GRCm39)	nonsense	probably null
R4873:Fpgt	UTSW	3	154,793,550 (GRCm39)	missense	probably damaging	1.00
R4875:Fpgt	UTSW	3	154,793,550 (GRCm39)	missense	probably damaging	1.00
R5973:Fpgt	UTSW	3	154,793,040 (GRCm39)	missense	probably damaging	1.00
R7134:Fpgt	UTSW	3	154,797,120 (GRCm39)	missense	probably damaging	1.00
R7300:Fpgt	UTSW	3	154,792,612 (GRCm39)	missense	probably damaging	0.98
R7505:Fpgt	UTSW	3	154,792,413 (GRCm39)	missense	possibly damaging	0.92
R7521:Fpgt	UTSW	3	154,792,765 (GRCm39)	missense	possibly damaging	0.96
R7690:Fpgt	UTSW	3	154,793,467 (GRCm39)	missense	probably damaging	1.00
R7736:Fpgt	UTSW	3	154,792,747 (GRCm39)	missense	probably benign	0.34
R7815:Fpgt	UTSW	3	154,792,289 (GRCm39)	missense	probably benign	0.00
R8061:Fpgt	UTSW	3	154,792,903 (GRCm39)	missense	probably benign	0.00
R9017:Fpgt	UTSW	3	154,792,903 (GRCm39)	missense	probably benign	0.01
R9298:Fpgt	UTSW	3	154,792,695 (GRCm39)	nonsense	probably null
R9375:Fpgt	UTSW	3	154,792,934 (GRCm39)	missense	probably benign	0.05

Posted On

2014-05-07