Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03106:Fpgt'

418952

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: 0.106) question?

Stock #

IGL03106

Quality Score

Status

Chromosome

Chromosomal Location

154790552-154799024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 154792759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 423 (G423R)

Ref Sequence

ENSEMBL: ENSMUSP00000068939 (fasta)

Gene Model

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

AlphaFold

G5E8F4

Predicted Effect

probably damaging
Transcript: ENSMUST00000066568
AA Change: G423R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068939
Gene: ENSMUSG00000053870
AA Change: G423R

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	G	T	8: 25,205,135 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,621,018 (GRCm39)	N3911S	probably benign	Het
Alox12b	C	T	11: 69,059,702 (GRCm39)	Q585*	probably null	Het
Amtn	A	G	5: 88,525,944 (GRCm39)	Q36R	probably benign	Het
Arg2	G	A	12: 79,196,665 (GRCm39)	G129S	probably damaging	Het
Arhgef28	A	C	13: 98,094,301 (GRCm39)	Y948D	probably damaging	Het
Atp10b	T	C	11: 43,138,304 (GRCm39)	V1195A	probably benign	Het
Bet1l	G	T	7: 140,434,523 (GRCm39)	T42K	probably benign	Het
Cabin1	G	A	10: 75,569,462 (GRCm39)	T875I	probably benign	Het
Ccdc17	A	G	4: 116,454,033 (GRCm39)		probably null	Het
Crebrf	A	G	17: 26,990,293 (GRCm39)	E612G	probably damaging	Het
Cyp2c67	A	T	19: 39,632,119 (GRCm39)	M83K	probably benign	Het
Dgkz	A	G	2: 91,771,204 (GRCm39)	S414P	probably damaging	Het
Dock10	G	T	1: 80,546,551 (GRCm39)	H411N	probably damaging	Het
Dpyd	A	T	3: 118,988,783 (GRCm39)	T749S	probably benign	Het
Dsc1	C	T	18: 20,219,701 (GRCm39)		probably null	Het
Echdc1	A	T	10: 29,198,276 (GRCm39)	M74L	probably damaging	Het
Edn1	C	A	13: 42,458,499 (GRCm39)	T104K	possibly damaging	Het
Fat2	T	A	11: 55,202,727 (GRCm39)	T116S	probably benign	Het
Fcrl5	A	T	3: 87,343,190 (GRCm39)		probably null	Het
Gprc5b	A	T	7: 118,583,416 (GRCm39)	V151E	probably damaging	Het
Grm5	A	G	7: 87,685,278 (GRCm39)	Y465C	probably damaging	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Ighmbp2	T	C	19: 3,323,022 (GRCm39)	K308R	possibly damaging	Het
Lrch1	A	T	14: 75,073,202 (GRCm39)	S146T	possibly damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mterf3	T	C	13: 67,078,221 (GRCm39)	K16R	probably damaging	Het
Ncapg	T	A	5: 45,853,010 (GRCm39)	H825Q	probably damaging	Het
Or2t1	G	A	14: 14,328,851 (GRCm38)	V247I	probably damaging	Het
Or2y1f	T	A	11: 49,184,988 (GRCm39)	I280N	probably damaging	Het
Or4d5	A	G	9: 40,012,030 (GRCm39)	V252A	probably damaging	Het
Or5b95	G	A	19: 12,658,287 (GRCm39)	V272M	possibly damaging	Het
Or5t15	A	C	2: 86,681,958 (GRCm39)	L28R	possibly damaging	Het
Or5w15	A	T	2: 87,568,462 (GRCm39)	S69T	probably benign	Het
Pald1	A	T	10: 61,182,884 (GRCm39)	M355K	probably benign	Het
Phc1	A	G	6: 122,300,428 (GRCm39)		probably benign	Het
Phkb	T	A	8: 86,745,095 (GRCm39)		probably benign	Het
Pkn3	G	T	2: 29,975,257 (GRCm39)	R506L	probably damaging	Het
Plod2	T	C	9: 92,455,620 (GRCm39)	Y100H	probably damaging	Het
Prl7b1	G	T	13: 27,790,918 (GRCm39)	Q56K	probably benign	Het
Rhot1	T	A	11: 80,133,407 (GRCm39)	C229*	probably null	Het
Sema3a	G	A	5: 13,649,456 (GRCm39)	R735Q	probably damaging	Het
Slc18b1	A	G	10: 23,702,557 (GRCm39)	*460W	probably null	Het
Slco6c1	T	A	1: 96,993,748 (GRCm39)		probably benign	Het
Slu7	T	A	11: 43,333,457 (GRCm39)	V359D	possibly damaging	Het
Suco	T	C	1: 161,662,049 (GRCm39)	Y794C	possibly damaging	Het
Sult3a2	T	C	10: 33,655,769 (GRCm39)	N70S	probably benign	Het
Taar2	A	T	10: 23,817,195 (GRCm39)	D245V	probably damaging	Het
Taf1d	A	G	9: 15,221,237 (GRCm39)	H181R	possibly damaging	Het
Tmem33	T	C	5: 67,421,139 (GRCm39)	S38P	probably damaging	Het
Traf3ip1	T	C	1: 91,450,609 (GRCm39)	S519P	probably benign	Het
Ttc12	T	C	9: 49,369,362 (GRCm39)	K253E	possibly 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
IGL01977:Fpgt	APN	3	154,793,655 (GRCm39)	missense	probably damaging	0.99
IGL02136:Fpgt	APN	3	154,798,989 (GRCm39)	missense	probably benign
IGL02331:Fpgt	APN	3	154,793,499 (GRCm39)	missense	possibly damaging	0.90
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

2016-08-02