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)
|
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
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 |
possibly damaging
Transcript: ENSMUST00000212971
AA Change: T341M
PolyPhen 2
Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
|
Meta Mutation Damage Score |
0.1795 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |