Incidental Mutation 'R0032:Fcsk'
ID 15313
Institutional Source Beutler Lab
Gene Symbol Fcsk
Ensembl Gene ENSMUSG00000033703
Gene Name fucose kinase
Synonyms L-fucose kinase, 1110046B12Rik, Fuk
MMRRC Submission 038326-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R0032 (G1) of strain 731
Quality Score
Status Validated
Chromosome 8
Chromosomal Location 111609088-111629120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111618735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 341 (T341M)
Ref Sequence ENSEMBL: ENSMUSP00000148787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041382] [ENSMUST00000212971]
AlphaFold Q7TMC8
Predicted Effect probably benign
Transcript: ENSMUST00000041382
AA Change: T341M

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039271
Gene: ENSMUSG00000033703
AA Change: T341M

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 noncoding transcript
Transcript: ENSMUST00000180679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212242
Predicted Effect possibly damaging
Transcript: ENSMUST00000212971
AA Change: T341M

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 80.9%
  • 3x: 73.4%
  • 10x: 52.4%
  • 20x: 32.5%
Validation Efficiency 94% (87/93)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T A 10: 106,959,156 (GRCm39) T97S probably benign Het
Adcy1 T C 11: 7,094,729 (GRCm39) S552P possibly damaging Het
C2cd3 T A 7: 100,093,652 (GRCm39) probably benign Het
Cd86 A T 16: 36,441,235 (GRCm39) S77R probably damaging Het
Cfap54 C T 10: 92,768,559 (GRCm39) R188H probably benign Het
Cpne8 T A 15: 90,453,771 (GRCm39) probably benign Het
Ctsg T A 14: 56,339,196 (GRCm39) I21F probably damaging Het
Cyp2j9 T G 4: 96,457,043 (GRCm39) N476T possibly damaging Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Dennd4c T C 4: 86,746,387 (GRCm39) probably null Het
Dicer1 A T 12: 104,671,057 (GRCm39) L995* probably null Het
Dnah10 A G 5: 124,877,955 (GRCm39) K2623R possibly damaging Het
Dnajc21 G T 15: 10,461,963 (GRCm39) T146K probably benign Het
Dnmbp A C 19: 43,891,158 (GRCm39) L203R probably damaging Het
Eif4g1 C T 16: 20,504,648 (GRCm39) S829F probably damaging Het
Enkur T C 2: 21,194,115 (GRCm39) I153V probably benign Het
Erf T C 7: 24,944,500 (GRCm39) Y277C possibly damaging Het
Fstl5 T A 3: 76,555,742 (GRCm39) probably benign Het
Grm3 A G 5: 9,561,452 (GRCm39) probably null Het
Il11ra1 A G 4: 41,768,187 (GRCm39) E366G probably damaging Het
Ipo8 A G 6: 148,712,209 (GRCm39) C261R probably damaging Het
Itga11 T C 9: 62,681,377 (GRCm39) F998L probably benign Het
Krt74 T A 15: 101,669,887 (GRCm39) noncoding transcript Het
Me2 T G 18: 73,927,596 (GRCm39) M219L probably benign Het
Mlh3 A G 12: 85,292,523 (GRCm39) probably benign Het
Nfx1 T A 4: 41,015,321 (GRCm39) V842E probably benign Het
Oma1 T A 4: 103,223,209 (GRCm39) S465T possibly damaging Het
Opa1 A T 16: 29,433,887 (GRCm39) H574L probably damaging Het
Pcsk5 T C 19: 17,542,179 (GRCm39) N804S possibly damaging Het
Pde4a C A 9: 21,112,728 (GRCm39) probably benign Het
Pilra T A 5: 137,829,527 (GRCm39) D179V probably damaging Het
Piwil1 G A 5: 128,820,344 (GRCm39) S247N probably benign Het
Prss58 T G 6: 40,872,633 (GRCm39) T158P probably benign Het
Slc35e3 T C 10: 117,580,837 (GRCm39) M156V probably benign Het
Slit2 G A 5: 48,414,198 (GRCm39) R938Q probably damaging Het
Syt8 T C 7: 141,992,926 (GRCm39) V152A probably benign Het
Tppp2 G T 14: 52,156,866 (GRCm39) R81L possibly damaging Het
Trpc3 A G 3: 36,698,405 (GRCm39) I618T probably damaging Het
Zc3h4 T A 7: 16,168,565 (GRCm39) D891E unknown Het
Zfp120 A T 2: 149,959,512 (GRCm39) V270E possibly damaging 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
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
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
Posted On 2012-12-17