Mutagenetix > Incidental Mutation

Incidental Mutation 'R7448:Fcsk'

577473

Institutional Source

Beutler Lab

Gene Symbol

Fcsk

Ensembl Gene

ENSMUSG00000033703

Gene Name

fucose kinase

Synonyms

L-fucose kinase, 1110046B12Rik, Fuk

MMRRC Submission

045523-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R7448 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111609088-111629120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111616963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 396 (G396S)

Ref Sequence

ENSEMBL: ENSMUSP00000039271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041382] [ENSMUST00000212971]

AlphaFold

Q7TMC8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041382
AA Change: G396S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039271
Gene: ENSMUSG00000033703
AA Change: G396S

Domain	Start	End	E-Value	Type
low complexity region	22	37	N/A	INTRINSIC
Pfam:Fucokinase	94	496	1.7e-101	PFAM
low complexity region	807	821	N/A	INTRINSIC
Pfam:GHMP_kinases_N	827	894	3.6e-9	PFAM
Pfam:GHMP_kinases_C	970	1052	1e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212971
AA Change: G396S

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (117/117)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	C	2: 155,360,186 (GRCm39)	S54P	probably damaging	Het
Ahnak2	T	C	12: 112,746,605 (GRCm39)	K1242E		Het
Alpi	T	A	1: 87,029,257 (GRCm39)	M1L	possibly damaging	Het
Atp2c1	C	T	9: 105,329,982 (GRCm39)	A283T	probably damaging	Het
Atp8b5	T	G	4: 43,366,021 (GRCm39)	M764R	probably benign	Het
B4galnt2	T	A	11: 95,760,193 (GRCm39)	H278L	probably damaging	Het
Bcl9l	G	T	9: 44,420,634 (GRCm39)	A1347S	probably benign	Het
Bicd2	A	G	13: 49,533,427 (GRCm39)	E671G	probably damaging	Het
Bmp3	A	T	5: 99,020,077 (GRCm39)	I167F	probably damaging	Het
Bpifb5	T	A	2: 154,072,105 (GRCm39)	C271S	possibly damaging	Het
Camsap2	T	A	1: 136,198,644 (GRCm39)	H793L		Het
Casp8ap2	T	A	4: 32,643,974 (GRCm39)	S1016T	possibly damaging	Het
Castor1	A	G	11: 4,171,897 (GRCm39)	S325G	not run	Het
Ccdc134	T	A	15: 82,025,149 (GRCm39)	I216N	possibly damaging	Het
Ccdc63	G	T	5: 122,246,245 (GRCm39)	R559S	probably benign	Het
Cd276	T	C	9: 58,442,895 (GRCm39)	T187A	probably benign	Het
Ciao1	C	T	2: 127,087,678 (GRCm39)	R219H	probably damaging	Het
Clmn	T	C	12: 104,751,687 (GRCm39)	D256G	possibly damaging	Het
Cobl	A	C	11: 12,206,225 (GRCm39)	M550R	possibly damaging	Het
Cracr2b	A	T	7: 141,044,118 (GRCm39)	T117S	probably benign	Het
Cx3cr1	G	A	9: 119,881,282 (GRCm39)	A40V	probably benign	Het
Cxcl14	A	G	13: 56,440,344 (GRCm39)	C72R	probably damaging	Het
Dab2	T	A	15: 6,451,747 (GRCm39)	I121N	probably damaging	Het
Dapk1	A	G	13: 60,898,990 (GRCm39)	Y820C	probably damaging	Het
Dele1	A	G	18: 38,390,319 (GRCm39)	N256D	probably damaging	Het
Ech1	T	A	7: 28,525,623 (GRCm39)	C91S	probably damaging	Het
Exosc5	T	G	7: 25,358,734 (GRCm39)	V25G	probably benign	Het
Fbp1	A	C	13: 63,020,564 (GRCm39)	D122E	possibly damaging	Het
Fbxw13	A	G	9: 109,014,471 (GRCm39)	Y101H	unknown	Het
Fhip1a	G	A	3: 85,579,871 (GRCm39)	S778L	probably benign	Het
Fmnl1	T	A	11: 103,077,453 (GRCm39)	V271E	probably damaging	Het
Galnt1	T	A	18: 24,417,866 (GRCm39)	S545T	probably benign	Het
Galnt13	G	A	2: 54,406,576 (GRCm39)	V9M	possibly damaging	Het
Gm7995	A	T	14: 42,132,302 (GRCm39)	I45F		Het
Gpr137	C	T	19: 6,917,726 (GRCm39)	R134Q	possibly damaging	Het
Gpr22	T	G	12: 31,759,514 (GRCm39)	I203L	probably benign	Het
H2-Q10	T	C	17: 35,784,457 (GRCm39)	Y324H	not run	Het
Hcn4	G	A	9: 58,751,582 (GRCm39)	E403K	unknown	Het
Hddc2	T	A	10: 31,189,412 (GRCm39)	M1K	probably null	Het
Hps3	A	G	3: 20,089,329 (GRCm39)	F34S	probably damaging	Het
Ift56	T	A	6: 38,381,422 (GRCm39)	Y319*	probably null	Het
Igdcc4	G	T	9: 65,031,276 (GRCm39)	V405L	possibly damaging	Het
Itpr2	C	A	6: 146,231,006 (GRCm39)	V1215L	probably damaging	Het
Kif26b	T	C	1: 178,742,339 (GRCm39)	S812P	probably damaging	Het
Lgi1	T	A	19: 38,289,713 (GRCm39)	C260S	probably damaging	Het
Lhfpl6	A	G	3: 53,168,020 (GRCm39)	Y198C	probably damaging	Het
Lrp5	T	C	19: 3,699,439 (GRCm39)	D282G	probably benign	Het
Lrpprc	T	C	17: 85,079,567 (GRCm39)	T230A	probably damaging	Het
Lrtm2	A	G	6: 119,297,784 (GRCm39)	W86R	probably benign	Het
Maco1	A	T	4: 134,555,590 (GRCm39)	N294K	possibly damaging	Het
Magi2	G	A	5: 20,563,954 (GRCm39)	G199D	probably damaging	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Marchf7	T	A	2: 60,077,858 (GRCm39)		probably null	Het
Morc1	A	G	16: 48,251,708 (GRCm39)	D2G	probably damaging	Het
Mpp7	A	T	18: 7,351,079 (GRCm39)	F539L	probably damaging	Het
Muc13	A	T	16: 33,634,951 (GRCm39)	I502F	probably damaging	Het
Myh13	A	G	11: 67,255,286 (GRCm39)		probably null	Het
Nat10	C	G	2: 103,578,390 (GRCm39)	L238F	probably damaging	Het
Nckap1	G	A	2: 80,354,885 (GRCm39)	T679I	probably damaging	Het
Npy6r	T	A	18: 44,409,260 (GRCm39)	I227N	probably damaging	Het
Nudt18	A	T	14: 70,815,389 (GRCm39)	M1L	unknown	Het
Or13d1	T	A	4: 52,971,207 (GRCm39)	N195K	probably damaging	Het
Or14a257	G	A	7: 86,138,417 (GRCm39)	T114I	probably damaging	Het
Or4f14	T	A	2: 111,742,637 (GRCm39)	I213L	probably benign	Het
Or8d1	C	A	9: 38,766,412 (GRCm39)	T18K	probably damaging	Het
Or8u8	T	C	2: 86,011,678 (GRCm39)	Y259C	probably damaging	Het
Pcdha3	T	A	18: 37,079,266 (GRCm39)	F3I	probably benign	Het
Pcdhga3	T	A	18: 37,808,917 (GRCm39)	Y457N	possibly damaging	Het
Pclo	A	T	5: 14,719,631 (GRCm39)	Q1256L	unknown	Het
Piezo2	C	T	18: 63,157,543 (GRCm39)	R2389H	probably damaging	Het
Pml	G	T	9: 58,154,496 (GRCm39)	Q126K	probably benign	Het
Ppef2	A	G	5: 92,376,563 (GRCm39)	Y655H	probably damaging	Het
Ppp4r1	T	C	17: 66,147,936 (GRCm39)	V926A	probably damaging	Het
Psg29	A	G	7: 16,945,648 (GRCm39)	D406G	possibly damaging	Het
Ptprf	T	C	4: 118,092,864 (GRCm39)	D517G	probably benign	Het
Ptprg	G	A	14: 12,142,461 (GRCm38)	E371K	probably benign	Het
Pttg1ip2	T	C	5: 5,505,952 (GRCm39)	I110V	probably benign	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rasgrp1	T	A	2: 117,122,178 (GRCm39)	D404V	possibly damaging	Het
Rb1cc1	T	A	1: 6,315,727 (GRCm39)	F541I	probably damaging	Het
Rgsl1	C	A	1: 153,719,847 (GRCm39)		probably null	Het
Rhobtb2	C	T	14: 70,033,397 (GRCm39)	W524*	probably null	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rims1	A	G	1: 22,474,699 (GRCm39)	S211P		Het
Ripor2	A	T	13: 24,854,054 (GRCm39)	Q54L	possibly damaging	Het
Rnf213	A	G	11: 119,372,117 (GRCm39)	I4903V		Het
Robo3	T	A	9: 37,336,111 (GRCm39)	I452F	possibly damaging	Het
Rpl27rt	A	G	18: 34,870,580 (GRCm39)	K38R	probably damaging	Het
Seh1l	C	T	18: 67,916,988 (GRCm39)	H56Y	probably damaging	Het
Sema3b	T	A	9: 107,480,162 (GRCm39)	D192V	probably damaging	Het
Sidt1	A	T	16: 44,106,763 (GRCm39)	C222*	probably null	Het
Skor1	A	G	9: 63,053,385 (GRCm39)	F195L	probably damaging	Het
Slc44a2	A	C	9: 21,259,642 (GRCm39)	K596N	possibly damaging	Het
Smgc	A	G	15: 91,729,696 (GRCm39)	K217E	probably benign	Het
Socs7	C	A	11: 97,267,917 (GRCm39)	H349Q	possibly damaging	Het
Speer4f2	A	G	5: 17,581,540 (GRCm39)	T161A		Het
Spg11	T	C	2: 121,924,026 (GRCm39)		probably null	Het
Ssb	A	G	2: 69,693,624 (GRCm39)	T11A	probably benign	Het
Sun1	A	G	5: 139,232,589 (GRCm39)	S837G	probably damaging	Het
Szt2	A	C	4: 118,220,668 (GRCm39)	S3385A	unknown	Het
Tapbp	T	C	17: 34,139,391 (GRCm39)	V129A	possibly damaging	Het
Thsd1	T	C	8: 22,733,349 (GRCm39)	I132T	possibly damaging	Het
Tm6sf2	T	A	8: 70,530,589 (GRCm39)	V223E	possibly damaging	Het
Tm9sf4	T	A	2: 153,036,267 (GRCm39)	M343K	probably benign	Het
Trank1	C	A	9: 111,195,417 (GRCm39)	P1147Q	probably benign	Het
Trip4	G	A	9: 65,773,757 (GRCm39)	T275M	probably damaging	Het
Tsen34	T	C	7: 3,698,834 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,680,422 (GRCm39)	E1086G	unknown	Het
Ubr4	A	T	4: 139,189,778 (GRCm39)	M853L	unknown	Het
Ubxn11	A	T	4: 133,852,466 (GRCm39)	R352W	probably damaging	Het
Vmn1r35	G	A	6: 66,656,219 (GRCm39)		probably benign	Het
Vmn2r107	C	T	17: 20,595,994 (GRCm39)	T849I	probably benign	Het
Vmn2r93	C	A	17: 18,546,248 (GRCm39)	L707I	probably benign	Het
Wwc1	G	A	11: 35,766,533 (GRCm39)	T574I	probably benign	Het
Zfp143	A	G	7: 109,669,705 (GRCm39)	M45V	probably benign	Het
Zfp518a	T	A	19: 40,902,601 (GRCm39)	N843K	possibly damaging	Het
Zfp87	A	T	13: 67,665,163 (GRCm39)	M433K	probably benign	Het
Zfp873	C	A	10: 81,896,461 (GRCm39)	H397Q	probably damaging	Het
Zscan21	A	T	5: 138,116,110 (GRCm39)		probably benign	Het

Other mutations in Fcsk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Fcsk	APN	8	111,617,108 (GRCm39)	missense	possibly damaging	0.75
IGL01963:Fcsk	APN	8	111,620,034 (GRCm39)	missense	probably damaging	1.00
IGL01986:Fcsk	APN	8	111,609,889 (GRCm39)	missense	probably benign
PIT4283001:Fcsk	UTSW	8	111,614,064 (GRCm39)	missense	probably benign	0.05
R0008:Fcsk	UTSW	8	111,610,865 (GRCm39)	splice site	probably benign
R0032:Fcsk	UTSW	8	111,618,735 (GRCm39)	missense	possibly damaging	0.55
R0032:Fcsk	UTSW	8	111,618,735 (GRCm39)	missense	possibly damaging	0.55
R0057:Fcsk	UTSW	8	111,620,400 (GRCm39)	splice site	probably benign
R0057:Fcsk	UTSW	8	111,620,400 (GRCm39)	splice site	probably benign
R0280:Fcsk	UTSW	8	111,621,380 (GRCm39)	missense	probably damaging	1.00
R0285:Fcsk	UTSW	8	111,620,349 (GRCm39)	missense	probably benign	0.08
R0359:Fcsk	UTSW	8	111,619,891 (GRCm39)	splice site	probably null
R0587:Fcsk	UTSW	8	111,609,957 (GRCm39)	missense	probably damaging	0.98
R1528:Fcsk	UTSW	8	111,609,873 (GRCm39)	missense	probably damaging	1.00
R1731:Fcsk	UTSW	8	111,621,455 (GRCm39)	missense	probably damaging	0.96
R1907:Fcsk	UTSW	8	111,620,010 (GRCm39)	nonsense	probably null
R2152:Fcsk	UTSW	8	111,615,704 (GRCm39)	missense	probably benign	0.03
R2154:Fcsk	UTSW	8	111,615,704 (GRCm39)	missense	probably benign	0.03
R2392:Fcsk	UTSW	8	111,616,356 (GRCm39)	missense	probably benign
R3037:Fcsk	UTSW	8	111,621,350 (GRCm39)	splice site	probably null
R3714:Fcsk	UTSW	8	111,613,891 (GRCm39)	missense	probably damaging	1.00
R3765:Fcsk	UTSW	8	111,613,736 (GRCm39)	missense	probably benign	0.00
R4307:Fcsk	UTSW	8	111,618,712 (GRCm39)	nonsense	probably null
R4404:Fcsk	UTSW	8	111,616,933 (GRCm39)	missense	probably benign	0.03
R4768:Fcsk	UTSW	8	111,618,766 (GRCm39)	missense	probably benign	0.00
R4998:Fcsk	UTSW	8	111,614,435 (GRCm39)	missense	probably damaging	0.96
R5009:Fcsk	UTSW	8	111,614,462 (GRCm39)	missense	probably damaging	0.99
R5253:Fcsk	UTSW	8	111,610,499 (GRCm39)	missense	possibly damaging	0.90
R6257:Fcsk	UTSW	8	111,617,177 (GRCm39)	missense	probably benign	0.00
R6430:Fcsk	UTSW	8	111,610,748 (GRCm39)	missense	probably benign	0.16
R6536:Fcsk	UTSW	8	111,610,511 (GRCm39)	missense	possibly damaging	0.47
R6599:Fcsk	UTSW	8	111,619,915 (GRCm39)	splice site	probably null
R6799:Fcsk	UTSW	8	111,620,050 (GRCm39)	missense	probably benign
R7051:Fcsk	UTSW	8	111,616,971 (GRCm39)	missense	probably damaging	0.97
R7184:Fcsk	UTSW	8	111,613,788 (GRCm39)	missense	probably damaging	1.00
R7241:Fcsk	UTSW	8	111,622,529 (GRCm39)	missense	probably benign
R8081:Fcsk	UTSW	8	111,615,783 (GRCm39)	missense	probably benign
R8094:Fcsk	UTSW	8	111,622,604 (GRCm39)	missense	probably damaging	1.00
R8692:Fcsk	UTSW	8	111,615,722 (GRCm39)	missense	probably benign	0.06
R9036:Fcsk	UTSW	8	111,614,064 (GRCm39)	missense	probably benign	0.05
R9172:Fcsk	UTSW	8	111,610,557 (GRCm39)	missense	probably damaging	1.00
R9471:Fcsk	UTSW	8	111,610,041 (GRCm39)	missense	probably benign	0.01
R9580:Fcsk	UTSW	8	111,616,813 (GRCm39)	missense	probably damaging	0.99
R9733:Fcsk	UTSW	8	111,615,563 (GRCm39)	missense	probably benign	0.01
R9780:Fcsk	UTSW	8	111,613,743 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTAGATGCCTACTTCCCAGC -3'
(R):5'- TGGCTTTCAGCTTTACCGG -3'

Sequencing Primer
(F):5'- ACTTCCCAGCTGTCCAGACG -3'
(R):5'- ACAGCTGCTAGAGGCTACGTG -3'

Posted On

2019-10-07