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)
|
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
Domain | Start | End | E-Value | Type |
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
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 |
probably benign
Transcript: ENSMUST00000174679
|
SMART Domains |
Protein: ENSMUSP00000133458 Gene: ENSMUSG00000031753
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |