Mutagenetix > Incidental Mutation

Incidental Mutation 'R7736:Fpgt'

596240

Institutional Source

Beutler Lab

Gene Symbol

Fpgt

Ensembl Gene

ENSMUSG00000053870

Gene Name

fucose-1-phosphate guanylyltransferase

Synonyms

1700016E03Rik

MMRRC Submission

045792-MU

Accession Numbers

Essential gene?

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

Stock #

R7736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

154790552-154799024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 154792747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 427 (I427L)

Ref Sequence

ENSEMBL: ENSMUSP00000068939 (fasta)

Gene Model

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

AlphaFold

G5E8F4

Predicted Effect

probably benign
Transcript: ENSMUST00000066568
AA Change: I427L

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068939
Gene: ENSMUSG00000053870
AA Change: I427L

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: 100.0%
10x: 99.7%
20x: 99.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,359,123 (GRCm39)	D561A	probably benign	Het
Adgrg1	T	C	8: 95,731,965 (GRCm39)	F204S	probably benign	Het
Apoa2	T	C	1: 171,053,741 (GRCm39)	L72P	probably damaging	Het
Arhgef10	A	T	8: 15,030,583 (GRCm39)	K987*	probably null	Het
Arrb1	A	G	7: 99,188,981 (GRCm39)	D9G	unknown	Het
Asph	A	G	4: 9,621,930 (GRCm39)	S192P	possibly damaging	Het
Bcas1	G	A	2: 170,229,084 (GRCm39)	T309M	possibly damaging	Het
Bcat2	C	T	7: 45,234,617 (GRCm39)	T166M	possibly damaging	Het
Bmp5	A	T	9: 75,801,072 (GRCm39)	I401L	probably damaging	Het
Bpifb9b	G	A	2: 154,154,025 (GRCm39)	G261R	probably benign	Het
Cd53	T	A	3: 106,675,252 (GRCm39)	Y106F	probably benign	Het
Cdhr3	T	A	12: 33,103,519 (GRCm39)	D366V	probably benign	Het
Ceacam10	G	C	7: 24,480,636 (GRCm39)	V256L	unknown	Het
Cilp2	A	G	8: 70,334,071 (GRCm39)	Y976H	probably damaging	Het
Cklf	A	G	8: 104,988,187 (GRCm39)	T107A	possibly damaging	Het
Dhx16	T	A	17: 36,192,568 (GRCm39)	W167R	possibly damaging	Het
Dkk2	T	G	3: 131,883,775 (GRCm39)	L225R	probably damaging	Het
Dmbt1	A	T	7: 130,718,625 (GRCm39)	D1782V	unknown	Het
Ebag9	A	T	15: 44,491,800 (GRCm39)	D64V	probably damaging	Het
Eif3j2	T	C	18: 43,610,382 (GRCm39)	N144D	possibly damaging	Het
Elp1	T	C	4: 56,776,920 (GRCm39)	T626A	possibly damaging	Het
Foxk2	A	T	11: 121,190,473 (GRCm39)	Q538L	possibly damaging	Het
Ganc	A	T	2: 120,264,295 (GRCm39)	N416I	possibly damaging	Het
Gata6	A	G	18: 11,084,379 (GRCm39)	Y556C	probably damaging	Het
Gga2	A	T	7: 121,589,747 (GRCm39)	V534E	probably damaging	Het
Gm7324	T	A	14: 43,952,256 (GRCm39)	S300T	possibly damaging	Het
Gprc6a	A	C	10: 51,491,549 (GRCm39)	N733K	possibly damaging	Het
Hivep3	C	T	4: 119,952,740 (GRCm39)	T352I	possibly damaging	Het
Ift88	T	G	14: 57,683,121 (GRCm39)	V266G	probably benign	Het
Ip6k1	G	T	9: 107,922,891 (GRCm39)	G341V	probably damaging	Het
Itga3	G	T	11: 94,967,029 (GRCm39)	A45E	probably damaging	Het
Kctd14	T	A	7: 97,107,147 (GRCm39)	L134Q	probably damaging	Het
Lats1	C	A	10: 7,578,128 (GRCm39)	N417K	probably damaging	Het
Lrrc37a	T	C	11: 103,388,285 (GRCm39)	H2380R	unknown	Het
Lrrc4c	A	G	2: 97,460,705 (GRCm39)	T444A	probably benign	Het
M1ap	T	C	6: 82,982,565 (GRCm39)	I283T	probably benign	Het
Mapre2	T	C	18: 24,011,012 (GRCm39)	S207P	probably benign	Het
Moxd1	T	C	10: 24,158,608 (GRCm39)	F421L	probably damaging	Het
Nos2	T	A	11: 78,813,192 (GRCm39)	C33*	probably null	Het
Or14j4	A	T	17: 37,921,303 (GRCm39)	L113H	probably damaging	Het
Or1j16	A	T	2: 36,530,197 (GRCm39)	I49F	probably damaging	Het
Or5g26	T	C	2: 85,494,758 (GRCm39)	T7A	probably damaging	Het
Otud4	T	C	8: 80,382,394 (GRCm39)	I201T	possibly damaging	Het
Pank4	T	C	4: 155,054,204 (GRCm39)	Y128H	probably benign	Het
Phf11	C	T	14: 59,488,594 (GRCm39)	D68N	probably benign	Het
Pitpnm2	A	G	5: 124,261,093 (GRCm39)	V1027A	possibly damaging	Het
Plcb3	A	G	19: 6,946,991 (GRCm39)	V8A	probably benign	Het
Por	A	G	5: 135,759,976 (GRCm39)	E221G	probably damaging	Het
Prokr2	A	T	2: 132,223,500 (GRCm39)	L14*	probably null	Het
Ptgis	A	G	2: 167,033,891 (GRCm39)	F459S	unknown	Het
Ptpru	T	C	4: 131,515,693 (GRCm39)	E887G	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Slc18a1	A	G	8: 69,518,206 (GRCm39)		probably null	Het
Slc27a3	A	G	3: 90,296,740 (GRCm39)	S120P	probably benign	Het
Slc2a12	T	A	10: 22,540,717 (GRCm39)	Y191N	probably damaging	Het
Snx29	T	A	16: 11,185,588 (GRCm39)	M57K	probably benign	Het
Syncrip	A	G	9: 88,343,721 (GRCm39)		probably null	Het
Taar4	T	A	10: 23,836,897 (GRCm39)	V169E	probably damaging	Het
Tas1r1	C	T	4: 152,116,923 (GRCm39)	G237D	probably benign	Het
Tle1	T	C	4: 72,117,571 (GRCm39)	K30E	probably damaging	Het
Tmem131l	A	T	3: 83,847,875 (GRCm39)	L330Q	probably damaging	Het
Tmem67	A	G	4: 12,053,455 (GRCm39)	F698L	probably benign	Het
Ttn	T	A	2: 76,739,574 (GRCm39)	Q3701L	unknown	Het
Vmn2r17	G	A	5: 109,600,757 (GRCm39)	R685K	probably benign	Het
Ylpm1	C	A	12: 85,059,757 (GRCm39)	A321E	unknown	Het
Zdbf2	T	A	1: 63,347,166 (GRCm39)	Y1848*	probably null	Het
Zfand2b	T	A	1: 75,146,176 (GRCm39)	N61K	probably null	Het
Zfp867	C	T	11: 59,354,016 (GRCm39)	A438T	probably damaging	Het
Zkscan14	G	A	5: 145,132,319 (GRCm39)	T404I	probably benign	Het
Zrsr2-ps1	C	T	11: 22,923,510 (GRCm39)	Q95*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AGACTCCAAAGAACTGAAGTGC -3'
(R):5'- ACACTGCAAGAGTATCTGCTTC -3'

Sequencing Primer
(F):5'- CTCCAAAGAACTGAAGTGCCTTTATG -3'
(R):5'- CACCTCTGATAGTGCATTAAAGACGG -3'

Posted On

2019-11-26