Incidental Mutation 'R7184:Fcsk'
ID 559186
Institutional Source Beutler Lab
Gene Symbol Fcsk
Ensembl Gene ENSMUSG00000033703
Gene Name fucose kinase
Synonyms L-fucose kinase, 1110046B12Rik, Fuk
MMRRC Submission 045236-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7184 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 111609088-111629120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111613788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 758 (P758S)
Ref Sequence ENSEMBL: ENSMUSP00000039271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034203] [ENSMUST00000041382] [ENSMUST00000174679] [ENSMUST00000212971]
AlphaFold Q7TMC8
Predicted Effect probably benign
Transcript: ENSMUST00000034203
SMART Domains Protein: ENSMUSP00000034203
Gene: ENSMUSG00000031753

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
coiled coil region 34 77 N/A INTRINSIC
Blast:Cog4 81 178 1e-53 BLAST
Cog4 188 498 1.81e-140 SMART
Pfam:RINT1_TIP1 536 773 3.1e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000041382
AA Change: P758S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039271
Gene: ENSMUSG00000033703
AA Change: P758S

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000174679
SMART Domains Protein: ENSMUSP00000133458
Gene: ENSMUSG00000031753

DomainStartEndE-ValueType
Blast:Cog4 27 174 5e-60 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000212971
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,094,219 (GRCm39) S500P possibly damaging Het
Aldh9a1 T A 1: 167,184,965 (GRCm39) N292K probably benign Het
Art2b A T 7: 101,229,658 (GRCm39) S80R probably benign Het
Atp6v1b2 G T 8: 69,555,219 (GRCm39) A194S possibly damaging Het
Bsnd T C 4: 106,349,109 (GRCm39) M44V probably damaging Het
Cadps2 A T 6: 23,583,428 (GRCm39) V383E probably benign Het
Cd93 T C 2: 148,284,459 (GRCm39) T296A possibly damaging Het
Cdk15 G T 1: 59,304,814 (GRCm39) E138D probably benign Het
Cdon A G 9: 35,375,191 (GRCm39) I406V probably benign Het
Cfhr4 A G 1: 139,660,822 (GRCm39) V622A possibly damaging Het
Cyp3a41a A G 5: 145,642,663 (GRCm39) V232A probably benign Het
Dbndd1 T A 8: 124,235,860 (GRCm39) D130V probably damaging Het
Dnah14 C T 1: 181,532,094 (GRCm39) R2294* probably null Het
Eddm3b A G 14: 51,354,387 (GRCm39) Y125C probably damaging Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Enah A T 1: 181,749,957 (GRCm39) V294E probably damaging Het
Farp2 A G 1: 93,531,137 (GRCm39) E545G probably damaging Het
Farsb T C 1: 78,458,994 (GRCm39) E22G possibly damaging Het
Fezf1 A G 6: 23,247,835 (GRCm39) V80A probably benign Het
Fpr2 T C 17: 18,113,533 (GRCm39) Y39H unknown Het
Fsd1l C A 4: 53,694,054 (GRCm39) R344S probably damaging Het
Fxyd1 G T 7: 30,751,401 (GRCm39) R90S unknown Het
Galnt4 T A 10: 98,944,466 (GRCm39) Y64N probably damaging Het
Gatb C T 3: 85,544,258 (GRCm39) Q409* probably null Het
Glipr2 A C 4: 43,968,667 (GRCm39) D73A possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr88 C T 3: 116,045,643 (GRCm39) V223I possibly damaging Het
Gtf2h3 A G 5: 124,722,067 (GRCm39) N55S probably benign Het
Htr4 T A 18: 62,570,498 (GRCm39) C184* probably null Het
Ighv6-3 T A 12: 114,355,475 (GRCm39) R71S probably benign Het
Itpr2 G C 6: 146,212,585 (GRCm39) I1510M possibly damaging Het
Keap1 T C 9: 21,145,134 (GRCm39) Q292R probably benign Het
Mab21l4 T C 1: 93,082,237 (GRCm39) N294S probably benign Het
Malt1 A C 18: 65,580,764 (GRCm39) E219D probably benign Het
Manba T C 3: 135,228,915 (GRCm39) V279A possibly damaging Het
Map4k5 T A 12: 69,921,095 (GRCm39) H41L probably benign Het
Mcm2 T G 6: 88,868,776 (GRCm39) Y327S probably damaging Het
Nectin3 A G 16: 46,215,484 (GRCm39) I503T possibly damaging Het
Nqo1 T C 8: 108,119,279 (GRCm39) I99M probably damaging Het
Nrxn2 A G 19: 6,540,582 (GRCm39) H845R probably damaging Het
Otogl C T 10: 107,599,061 (GRCm39) C2254Y probably damaging Het
Pmm1 T C 15: 81,840,415 (GRCm39) N110S probably damaging Het
Poc1b G T 10: 98,970,199 (GRCm39) C68F probably benign Het
Polr1b A G 2: 128,965,842 (GRCm39) Y828C possibly damaging Het
Prl3d1 A G 13: 27,282,619 (GRCm39) H119R probably damaging Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rusc1 T C 3: 88,999,194 (GRCm39) E196G possibly damaging Het
Sf3a3 A G 4: 124,608,772 (GRCm39) K29E probably benign Het
Slc13a1 A T 6: 24,092,311 (GRCm39) I475K probably damaging Het
Slc26a5 G T 5: 22,042,244 (GRCm39) Y237* probably null Het
Slc7a14 C T 3: 31,281,212 (GRCm39) G366D probably damaging Het
Tbc1d5 A G 17: 51,107,110 (GRCm39) V482A probably benign Het
Tdrd5 G T 1: 156,087,505 (GRCm39) Q883K probably benign Het
Tet2 T C 3: 133,179,391 (GRCm39) Y1258C probably damaging Het
Upf2 A G 2: 6,028,131 (GRCm39) D739G unknown Het
Vmn1r122 A T 7: 20,867,820 (GRCm39) F78L probably benign Het
Vmn1r75 A T 7: 11,614,915 (GRCm39) K216* probably null Het
Vmn2r11 A T 5: 109,201,281 (GRCm39) Y408N probably damaging Het
Wscd1 T A 11: 71,679,543 (GRCm39) V472D probably damaging Het
Zdbf2 G T 1: 63,345,664 (GRCm39) V1348F possibly damaging Het
Zfp442 G T 2: 150,250,056 (GRCm39) H615Q possibly damaging Het
Zfp457 C A 13: 67,442,065 (GRCm39) C170F possibly damaging Het
Zscan10 A G 17: 23,826,003 (GRCm39) probably null Het
Other mutations in Fcsk
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCTCCCCAATAGTCTACAGTC -3'
(R):5'- AGTTCCTCGGGCTAGGTATG -3'

Sequencing Primer
(F):5'- TGGATATCCAAGGTCTGCCC -3'
(R):5'- ATGGGTATCCTCCTCAGAGTCAG -3'
Posted On 2019-06-26