Mutagenetix > Incidental Mutation

Incidental Mutation 'R9375:Fpgt'

709534

Institutional Source

Beutler Lab

Gene Symbol

Fpgt

Ensembl Gene

ENSMUSG00000053870

Gene Name

fucose-1-phosphate guanylyltransferase

Synonyms

1700016E03Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9375 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154790552-154799024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 154792934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 364 (D364E)

Ref Sequence

ENSEMBL: ENSMUSP00000068939 (fasta)

Gene Model

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

AlphaFold

G5E8F4

Predicted Effect

probably benign
Transcript: ENSMUST00000066568
AA Change: D364E

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000068939
Gene: ENSMUSG00000053870
AA Change: D364E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (72/73)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,332,567 (GRCm39)	D549G	probably benign	Het
Aamdc	A	G	7: 97,199,902 (GRCm39)	V120A	probably benign	Het
Acp2	A	T	2: 91,037,174 (GRCm39)	Q251L	probably benign	Het
AI597479	C	T	1: 43,150,505 (GRCm39)	A205V	possibly damaging	Het
Apob	A	G	12: 8,029,261 (GRCm39)	T44A	possibly damaging	Het
Arhgap18	G	A	10: 26,648,610 (GRCm39)	V11M	probably damaging	Het
Arhgef10l	T	G	4: 140,319,265 (GRCm39)	H156P	probably benign	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Ccn2	A	T	10: 24,473,501 (GRCm39)	M347L	possibly damaging	Het
Chd9	G	A	8: 91,725,335 (GRCm39)		probably null	Het
Clec4n	T	A	6: 123,207,662 (GRCm39)	F42L	probably benign	Het
Cngb1	T	C	8: 96,026,350 (GRCm39)	K144E	unknown	Het
Cyp4f17	A	G	17: 32,747,746 (GRCm39)	T485A	probably damaging	Het
Dcaf6	T	A	1: 165,185,052 (GRCm39)	Y480F	probably damaging	Het
Defa30	C	T	8: 21,624,686 (GRCm39)	T3I	probably damaging	Het
Dmxl1	T	A	18: 50,091,477 (GRCm39)	W2854R	probably damaging	Het
Dnah11	G	A	12: 117,884,703 (GRCm39)	T3783I	possibly damaging	Het
Dync1i1	T	A	6: 5,913,443 (GRCm39)	F225L	possibly damaging	Het
Elp6	T	A	9: 110,144,852 (GRCm39)	Y119*	probably null	Het
Enpep	A	T	3: 129,125,529 (GRCm39)	M201K	probably benign	Het
Fam161a	A	T	11: 22,970,661 (GRCm39)	R280W	probably damaging	Het
Fam98a	T	C	17: 75,848,330 (GRCm39)	N128S	possibly damaging	Het
G3bp1	T	A	11: 55,390,439 (GRCm39)	M448K	probably damaging	Het
Gadd45b	T	C	10: 80,766,284 (GRCm39)	M16T	probably benign	Het
Gdi2	A	T	13: 3,614,869 (GRCm39)	I383F	probably benign	Het
H2-T13	T	C	17: 36,391,993 (GRCm39)	T27A	possibly damaging	Het
Igtp	T	G	11: 58,097,026 (GRCm39)	L66V	probably damaging	Het
Kcne4	G	A	1: 78,795,623 (GRCm39)	M90I	probably benign	Het
Lmo7	T	A	14: 102,136,123 (GRCm39)	M732K	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mast4	T	G	13: 102,917,753 (GRCm39)	S552R	probably damaging	Het
Meak7	G	A	8: 120,498,096 (GRCm39)	A136V	probably benign	Het
Mff	A	T	1: 82,707,007 (GRCm39)	M11L	probably benign	Het
Mterf2	T	C	10: 84,956,327 (GRCm39)	E99G	probably damaging	Het
Myef2l	T	C	3: 10,153,791 (GRCm39)	S187P	probably benign	Het
Myom2	T	A	8: 15,149,210 (GRCm39)	N560K	probably damaging	Het
Nab2	A	G	10: 127,500,580 (GRCm39)	S171P	probably damaging	Het
Nhlrc3	T	C	3: 53,369,190 (GRCm39)	N83S	possibly damaging	Het
Nod2	A	T	8: 89,391,033 (GRCm39)	I447F	probably damaging	Het
Npat	T	A	9: 53,474,456 (GRCm39)	D749E	possibly damaging	Het
Nxph4	A	G	10: 127,362,631 (GRCm39)	S87P	probably benign	Het
Or2y1f	T	A	11: 49,184,902 (GRCm39)	Y251*	probably null	Het
Or51i2	G	T	7: 103,689,273 (GRCm39)	R90L	possibly damaging	Het
Or5d47	G	A	2: 87,804,526 (GRCm39)	T161M	possibly damaging	Het
Or6c6	T	A	10: 129,186,989 (GRCm39)	S186T	probably damaging	Het
Or9q2	T	A	19: 13,772,214 (GRCm39)	T254S	probably damaging	Het
Pcdha3	G	A	18: 37,079,353 (GRCm39)	V32I	probably benign	Het
Pcdhgc3	A	T	18: 37,939,691 (GRCm39)	T31S	probably benign	Het
Phldb3	A	G	7: 24,323,297 (GRCm39)	R391G	probably damaging	Het
Piezo1	A	G	8: 123,228,604 (GRCm39)	V257A		Het
Pip5k1b	T	A	19: 24,416,442 (GRCm39)	Q15L	probably benign	Het
Plxnc1	T	C	10: 94,649,093 (GRCm39)	N1229D	probably benign	Het
Ptpn12	A	G	5: 21,224,212 (GRCm39)	V127A	probably benign	Het
Ptprr	T	A	10: 116,109,724 (GRCm39)	V655D	probably benign	Het
Rbbp8	A	G	18: 11,838,888 (GRCm39)	T190A	probably benign	Het
Rnf17	T	A	14: 56,719,579 (GRCm39)	V943E	probably damaging	Het
Rnpc3	C	T	3: 113,404,913 (GRCm39)	G414D	probably damaging	Het
Robo4	T	A	9: 37,316,158 (GRCm39)	N387K	probably damaging	Het
Sall4	G	A	2: 168,597,781 (GRCm39)	T353M	probably damaging	Het
Serpinb13	T	C	1: 106,909,997 (GRCm39)	I38T	probably damaging	Het
Sgsm1	A	T	5: 113,422,139 (GRCm39)	I218N	unknown	Het
Sntg2	T	A	12: 30,293,343 (GRCm39)		probably null	Het
Taf1c	G	A	8: 120,325,393 (GRCm39)	S823F	probably damaging	Het
Timd6	T	A	11: 46,468,246 (GRCm39)	C107S	probably damaging	Het
Trhde	T	G	10: 114,244,598 (GRCm39)	I963L	probably damaging	Het
Trim43b	T	C	9: 88,967,619 (GRCm39)	Y339C	probably damaging	Het
Trp53	T	A	11: 69,480,537 (GRCm39)		probably null	Het
Tubg2	T	C	11: 101,051,621 (GRCm39)	V282A	probably benign	Het
Ube2g1	C	T	11: 72,553,943 (GRCm39)		probably benign	Het
Usp34	C	A	11: 23,437,203 (GRCm39)	A3341E		Het
Vmn2r12	T	A	5: 109,233,986 (GRCm39)	H742L	probably damaging	Het
Vmn2r24	T	C	6: 123,792,542 (GRCm39)	V623A	probably damaging	Het
Vmn2r5	A	T	3: 64,411,316 (GRCm39)	D417E	probably damaging	Het
Vmn2r-ps158	C	T	7: 42,673,499 (GRCm39)	P193S	possibly damaging	Het
Xirp2	A	T	2: 67,342,118 (GRCm39)	D1453V	probably damaging	Het
Zfp2	T	C	11: 50,791,042 (GRCm39)	S334G	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCAGTTTTCCCCGATGGAC -3'
(R):5'- ATGGAGACTTTCTTCAGGCAC -3'

Sequencing Primer
(F):5'- TTCCCCGATGGACACCTCAG -3'
(R):5'- TGGAGCAACTGCAGAGTACACC -3'

Posted On

2022-04-18