Mutagenetix > Incidental Mutations

Incidental Mutation 'R0280:Fuk'

37464

Institutional Source

Beutler Lab

Gene Symbol

Fuk

Ensembl Gene

ENSMUSG00000033703

Gene Name

fucokinase

Synonyms

L-fucose kinase, 1110046B12Rik

MMRRC Submission

038502-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R0280 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

110882456-110902488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110894748 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 188 (V188D)

Ref Sequence

ENSEMBL: ENSMUSP00000148787 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000041382
AA Change: V188D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039271
Gene: ENSMUSG00000033703
AA Change: V188D

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

noncoding transcript
Transcript: ENSMUST00000180679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212568

Predicted Effect

probably damaging
Transcript: ENSMUST00000212971
AA Change: V188D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.246

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ankrd16	T	G	2: 11,781,501	V187G	probably damaging	Het
AU019823	T	C	9: 50,609,379	T123A	probably damaging	Het
Ccdc110	A	T	8: 45,943,450	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,558,663	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,008,715	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Crocc	T	C	4: 141,028,426	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,271,602	V494E	probably damaging	Het
Drg1	A	T	11: 3,256,537		probably null	Het
Dscam	T	C	16: 97,039,006	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 28,184,312	Y198H	probably damaging	Het
Esr1	A	G	10: 4,856,951	D289G	probably benign	Het
Esr1	G	T	10: 4,939,289	V396F	probably damaging	Het
Evi5l	T	C	8: 4,193,133	V339A	probably damaging	Het
Fat4	A	T	3: 38,890,816	Q1286L	probably benign	Het
Frem1	T	C	4: 82,969,444	H1118R	probably damaging	Het
Fut9	C	T	4: 25,619,852	D321N	probably benign	Het
Gaa	T	G	11: 119,284,547	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,544,680		probably null	Het
Kidins220	A	G	12: 25,010,141	T767A	probably damaging	Het
Kif7	A	G	7: 79,698,823	S1257P	probably benign	Het
Ltn1	A	G	16: 87,397,838	L1391P	probably damaging	Het
Mast3	A	G	8: 70,783,795	Y681H	probably damaging	Het
Mast3	A	G	8: 70,787,920	V291A	possibly damaging	Het
Metrn	C	T	17: 25,795,135	R239H	probably benign	Het
Mphosph10	C	A	7: 64,376,703	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,586,461	T433I	probably benign	Het
Mtmr2	A	G	9: 13,799,249	K365E	probably damaging	Het
Nanog	A	G	6: 122,713,398	D229G	probably damaging	Het
Npepps	T	C	11: 97,241,014	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,551,936		probably benign	Het
Olfr1279	T	C	2: 111,307,072	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,607,034	E357G	probably damaging	Het
Polb	A	T	8: 22,640,392	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,162,775	S74T	probably benign	Het
Raet1d	T	A	10: 22,370,883	C37S	probably damaging	Het
Reln	G	A	5: 22,227,513		probably benign	Het
Rps6kc1	T	C	1: 190,809,000	S369G	probably damaging	Het
Sgf29	A	G	7: 126,671,571	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,706,017	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,896,822	L188*	probably null	Het
Slc9a3	T	A	13: 74,159,424	I445N	probably damaging	Het
Sufu	A	T	19: 46,450,673		probably benign	Het
Tomm40	G	A	7: 19,713,751	T118I	probably damaging	Het
Ttc25	A	T	11: 100,550,265	K107N	probably damaging	Het
Ttn	C	T	2: 76,740,479	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,340,139	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vsig8	A	G	1: 172,561,538	D119G	probably benign	Het

Other mutations in Fuk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Fuk	APN	8	110890476	missense	possibly damaging	0.75
IGL01963:Fuk	APN	8	110893402	missense	probably damaging	1.00
IGL01986:Fuk	APN	8	110883257	missense	probably benign
PIT4283001:Fuk	UTSW	8	110887432	missense	probably benign	0.05
R0008:Fuk	UTSW	8	110884233	splice site	probably benign
R0032:Fuk	UTSW	8	110892103	missense	possibly damaging	0.55
R0032:Fuk	UTSW	8	110892103	missense	possibly damaging	0.55
R0057:Fuk	UTSW	8	110893768	splice site	probably benign
R0057:Fuk	UTSW	8	110893768	splice site	probably benign
R0285:Fuk	UTSW	8	110893717	missense	probably benign	0.08
R0359:Fuk	UTSW	8	110893259	intron	probably null
R0587:Fuk	UTSW	8	110883325	missense	probably damaging	0.98
R1528:Fuk	UTSW	8	110883241	missense	probably damaging	1.00
R1731:Fuk	UTSW	8	110894823	missense	probably damaging	0.96
R1907:Fuk	UTSW	8	110893378	nonsense	probably null
R2152:Fuk	UTSW	8	110889072	missense	probably benign	0.03
R2154:Fuk	UTSW	8	110889072	missense	probably benign	0.03
R2392:Fuk	UTSW	8	110889724	missense	probably benign
R3037:Fuk	UTSW	8	110894718	splice site	probably null
R3714:Fuk	UTSW	8	110887259	missense	probably damaging	1.00
R3765:Fuk	UTSW	8	110887104	missense	probably benign	0.00
R4307:Fuk	UTSW	8	110892080	nonsense	probably null
R4404:Fuk	UTSW	8	110890301	missense	probably benign	0.03
R4768:Fuk	UTSW	8	110892134	missense	probably benign	0.00
R4998:Fuk	UTSW	8	110887803	missense	probably damaging	0.96
R5009:Fuk	UTSW	8	110887830	missense	probably damaging	0.99
R5253:Fuk	UTSW	8	110883867	missense	possibly damaging	0.90
R6257:Fuk	UTSW	8	110890545	missense	probably benign	0.00
R6430:Fuk	UTSW	8	110884116	missense	probably benign	0.16
R6536:Fuk	UTSW	8	110883879	missense	possibly damaging	0.47
R6599:Fuk	UTSW	8	110893283	splice site	probably null
R6799:Fuk	UTSW	8	110893418	missense	probably benign
R7051:Fuk	UTSW	8	110890339	missense	probably damaging	0.97
R7184:Fuk	UTSW	8	110887156	missense	probably damaging	1.00
R7241:Fuk	UTSW	8	110895897	missense	probably benign
R7448:Fuk	UTSW	8	110890331	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GGCTTTAGTCACTGTCACAGCCTC -3'
(R):5'- GGAATGTCCATTTGGCCTTGGAAAC -3'

Sequencing Primer
(F):5'- TGTCACAGCCTCAGCCC -3'
(R):5'- GGAAACTGTATTTCCCTTCCAGAG -3'

Posted On

2013-05-23