Mutagenetix > Incidental Mutation

Incidental Mutation 'R4998:Fcsk'

389645

Institutional Source

Beutler Lab

Gene Symbol

Fcsk

Ensembl Gene

ENSMUSG00000033703

Gene Name

fucose kinase

Synonyms

L-fucose kinase, 1110046B12Rik, Fuk

MMRRC Submission

042592-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R4998 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

111609088-111629120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111614435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 618 (A618V)

Ref Sequence

ENSEMBL: ENSMUSP00000039271 (fasta)

Gene Model

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

AlphaFold

Q7TMC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000041382
AA Change: A618V

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039271
Gene: ENSMUSG00000033703
AA Change: A618V

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

probably benign
Transcript: ENSMUST00000212971

Meta Mutation Damage Score

0.1253

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (91/94)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,271,088 (GRCm39)	V135A	probably damaging	Het
Ankrd42	T	C	7: 92,273,282 (GRCm39)	N115S	possibly damaging	Het
Baz1a	T	C	12: 55,021,922 (GRCm39)	E120G	probably damaging	Het
Calcrl	A	T	2: 84,169,658 (GRCm39)	V341E	probably damaging	Het
Card6	T	C	15: 5,129,564 (GRCm39)	R611G	probably benign	Het
Cd70	A	T	17: 57,453,311 (GRCm39)	S118T	probably damaging	Het
Chil5	T	A	3: 105,927,248 (GRCm39)	I188F	probably damaging	Het
Clca4b	C	T	3: 144,621,269 (GRCm39)	V602I	probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Col6a4	A	G	9: 105,867,977 (GRCm39)		probably benign	Het
Cox8b	T	C	7: 140,479,001 (GRCm39)	E38G	probably damaging	Het
Cx3cl1	C	G	8: 95,507,053 (GRCm39)	L353V	probably damaging	Het
Cyp2a4	G	T	7: 26,006,786 (GRCm39)	Q48H	probably damaging	Het
Defb8	T	C	8: 19,497,603 (GRCm39)	I3V	probably benign	Het
Dip2a	A	T	10: 76,155,390 (GRCm39)	L65*	probably null	Het
Dnaaf4	A	G	9: 72,867,960 (GRCm39)	T74A	possibly damaging	Het
Dsg2	A	T	18: 20,734,578 (GRCm39)	D852V	probably benign	Het
Edar	T	C	10: 58,441,915 (GRCm39)	R326G	probably damaging	Het
Egfr	A	G	11: 16,831,493 (GRCm39)	E554G	possibly damaging	Het
Eif2b3	A	C	4: 116,923,589 (GRCm39)	K268T	probably benign	Het
Enox1	A	T	14: 77,738,875 (GRCm39)		probably benign	Het
Enpp3	C	A	10: 24,683,436 (GRCm39)	M260I	probably benign	Het
Espn	A	T	4: 152,220,040 (GRCm39)	M361K	possibly damaging	Het
Fam107a	T	C	14: 8,299,514 (GRCm38)	N108S	possibly damaging	Het
Fbn2	A	T	18: 58,205,703 (GRCm39)	V1125D	probably damaging	Het
Fbxo30	T	A	10: 11,166,507 (GRCm39)	S410T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gm10715	T	G	9: 3,038,073 (GRCm39)		probably benign	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm17416	C	A	2: 152,411,427 (GRCm39)	P57Q	probably damaging	Het
Gm27013	A	T	6: 130,653,501 (GRCm39)	C654S	probably damaging	Het
Gon4l	G	T	3: 88,807,305 (GRCm39)	E1666D	probably damaging	Het
Gypa	T	A	8: 81,222,964 (GRCm39)	S23T	unknown	Het
Gys1	C	A	7: 45,100,968 (GRCm39)		probably benign	Het
Hdac10	T	A	15: 89,008,143 (GRCm39)	Q569L	possibly damaging	Het
Icos	A	G	1: 61,032,941 (GRCm39)	T47A	possibly damaging	Het
Igfn1	T	A	1: 135,882,404 (GRCm39)	I2814F	probably damaging	Het
Kif27	A	G	13: 58,440,957 (GRCm39)	S1153P	probably damaging	Het
Lin28a	A	C	4: 133,746,028 (GRCm39)	F9V	possibly damaging	Het
Lrriq3	T	A	3: 154,893,695 (GRCm39)	N465K	probably benign	Het
Lsm14a	T	C	7: 34,074,799 (GRCm39)	E47G	probably damaging	Het
Mmel1	A	G	4: 154,969,967 (GRCm39)	K177R	probably benign	Het
Ncstn	T	A	1: 171,899,087 (GRCm39)	N348I	possibly damaging	Het
Ninl	A	G	2: 150,795,284 (GRCm39)	I619T	probably damaging	Het
Npb	T	C	11: 120,499,401 (GRCm39)	Y23H	probably damaging	Het
Npepps	A	G	11: 97,096,933 (GRCm39)		probably benign	Het
Or8k30	T	C	2: 86,339,699 (GRCm39)	Y299H	probably benign	Het
Otop1	G	A	5: 38,451,892 (GRCm39)		probably null	Het
Pcdha1	T	C	18: 37,065,469 (GRCm39)	L711P	probably damaging	Het
Pcyt1a	A	G	16: 32,270,660 (GRCm39)		probably benign	Het
Pdpr	G	T	8: 111,841,400 (GRCm39)	V211F	probably damaging	Het
Pip4k2b	T	C	11: 97,613,261 (GRCm39)	N245S	possibly damaging	Het
Platr26	G	A	2: 71,561,214 (GRCm39)		noncoding transcript	Het
Plek	A	G	11: 16,933,194 (GRCm39)		probably null	Het
Potefam3c	G	C	8: 69,906,010 (GRCm39)	N13K	probably benign	Het
Prdm15	A	T	16: 97,595,689 (GRCm39)	D1046E	probably damaging	Het
Prr29	T	G	11: 106,267,779 (GRCm39)	C175G	probably benign	Het
Ptpru	A	G	4: 131,504,196 (GRCm39)	V1097A	probably damaging	Het
Ramp2	T	A	11: 101,138,247 (GRCm39)		probably benign	Het
Rap1gap	A	G	4: 137,455,595 (GRCm39)	D381G	possibly damaging	Het
Rbbp6	T	A	7: 122,589,549 (GRCm39)	D412E	probably benign	Het
Rgs4	C	T	1: 169,572,802 (GRCm39)	V45I	probably benign	Het
Ryr2	C	T	13: 11,658,781 (GRCm39)	R3614Q	probably damaging	Het
Shc3	G	A	13: 51,596,856 (GRCm39)		probably null	Het
Shmt2	A	T	10: 127,354,139 (GRCm39)	C412S	probably damaging	Het
Slc25a45	A	T	19: 5,934,945 (GRCm39)	N265Y	probably damaging	Het
Slc4a10	G	C	2: 62,074,783 (GRCm39)	E316Q	probably benign	Het
Slc5a8	T	C	10: 88,743,919 (GRCm39)		probably null	Het
Snx31	A	G	15: 36,539,513 (GRCm39)	V121A	probably damaging	Het
Socs3	T	C	11: 117,858,542 (GRCm39)	E172G	probably damaging	Het
Tg	A	G	15: 66,545,899 (GRCm39)	D207G	probably damaging	Het
Them4	G	T	3: 94,237,088 (GRCm39)	V183F	probably damaging	Het
Tkt	G	A	14: 30,287,499 (GRCm39)	W136*	probably null	Het
Tlcd3b	C	T	7: 126,426,795 (GRCm39)	R73C	probably damaging	Het
Tmc3	C	A	7: 83,271,529 (GRCm39)	R894S	probably benign	Het
Tmem132a	G	T	19: 10,836,305 (GRCm39)	P742T	probably benign	Het
Tmem202	A	G	9: 59,432,129 (GRCm39)	L66P	probably damaging	Het
Trbc1	G	A	6: 41,516,270 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,511 (GRCm39)	F158L	probably benign	Het
Ttc13	A	T	8: 125,406,795 (GRCm39)	N595K	probably damaging	Het
Ucp1	A	G	8: 84,024,484 (GRCm39)		probably null	Het
Zbtb4	C	T	11: 69,669,497 (GRCm39)	T740I	probably benign	Het
Zfp69	A	T	4: 120,804,522 (GRCm39)	D116E	possibly damaging	Het
Zfp879	A	G	11: 50,728,796 (GRCm39)	L66S	probably damaging	Het
Zfp955b	T	A	17: 33,524,125 (GRCm39)		probably benign	Het
Zfyve1	T	C	12: 83,594,839 (GRCm39)	I718V	possibly damaging	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
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
R7448:Fcsk	UTSW	8	111,616,963 (GRCm39)	missense	possibly damaging	0.93
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'- TGAACGTCCTCTCTGAGCATCC -3'
(R):5'- AGTTTGTAGCAGTGAGGAGCC -3'

Sequencing Primer
(F):5'- AGGAGATCCTTTCACAGATGGCTC -3'
(R):5'- TGAGGAGCCCGGAGTATCTG -3'

Posted On

2016-06-06