Incidental Mutation 'R5253:Fcsk'
| ID |
399226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcsk
|
| Ensembl Gene |
ENSMUSG00000033703 |
| Gene Name |
fucose kinase |
| Synonyms |
L-fucose kinase, 1110046B12Rik, Fuk |
| MMRRC Submission |
042824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R5253 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
111609088-111629120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111610499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 968
(E968G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034203]
[ENSMUST00000041382]
[ENSMUST00000165867]
[ENSMUST00000172542]
[ENSMUST00000174398]
[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 |
possibly damaging
Transcript: ENSMUST00000041382
AA Change: E968G
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039271
Gene: ENSMUSG00000033703
AA Change: E968G
| 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: ENSMUST00000165867
|
| SMART Domains |
Protein: ENSMUSP00000128518
Gene: ENSMUSG00000031753
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Cog4
|
8 |
105 |
6e-54 |
BLAST |
|
Cog4
|
115 |
425 |
1.81e-140 |
SMART |
|
PDB:3HR0|B
|
452 |
712 |
1e-174 |
PDB |
|
Blast:DIL
|
621 |
702 |
6e-38 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172542
|
| SMART Domains |
Protein: ENSMUSP00000133283
Gene: ENSMUSG00000031753
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COG4
|
1 |
156 |
6.3e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174398
|
| SMART Domains |
Protein: ENSMUSP00000133297
Gene: ENSMUSG00000031753
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
coiled coil region
|
33 |
76 |
N/A |
INTRINSIC |
|
Blast:Cog4
|
80 |
177 |
9e-54 |
BLAST |
|
Cog4
|
187 |
497 |
1.81e-140 |
SMART |
|
PDB:3HR0|B
|
524 |
763 |
1e-153 |
PDB |
|
Blast:DIL
|
672 |
753 |
7e-38 |
BLAST |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000180679
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212971
|
| Meta Mutation Damage Score |
0.3248 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
99% (72/73) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J11Rik |
T |
C |
9: 39,962,746 (GRCm39) |
|
noncoding transcript |
Het |
| Actrt2 |
A |
C |
4: 154,752,026 (GRCm39) |
S37A |
possibly damaging |
Het |
| Adcy7 |
T |
C |
8: 89,040,742 (GRCm39) |
I327T |
probably damaging |
Het |
| Ankrd13b |
A |
G |
11: 77,364,061 (GRCm39) |
|
probably benign |
Het |
| Arap1 |
A |
C |
7: 101,037,851 (GRCm39) |
I237L |
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,902,971 (GRCm39) |
Y359N |
probably benign |
Het |
| Atad1 |
A |
G |
19: 32,651,702 (GRCm39) |
M343T |
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,609,964 (GRCm39) |
I392N |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,574,930 (GRCm39) |
S1914P |
probably benign |
Het |
| Cd300a |
G |
T |
11: 114,785,577 (GRCm39) |
R174L |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,135,831 (GRCm39) |
P356L |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,405,436 (GRCm39) |
L283P |
probably damaging |
Het |
| Dusp1 |
T |
C |
17: 26,727,191 (GRCm39) |
N36S |
probably benign |
Het |
| Dync2i2 |
T |
A |
2: 29,922,375 (GRCm39) |
|
probably benign |
Het |
| Ercc3 |
C |
A |
18: 32,402,917 (GRCm39) |
P776Q |
probably damaging |
Het |
| Etv1 |
A |
G |
12: 38,902,248 (GRCm39) |
R260G |
possibly damaging |
Het |
| Fa2h |
C |
G |
8: 112,075,869 (GRCm39) |
M251I |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,108,119 (GRCm39) |
D49G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,888,884 (GRCm39) |
E2810G |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,366,805 (GRCm39) |
F343S |
possibly damaging |
Het |
| Gdf2 |
A |
G |
14: 33,667,264 (GRCm39) |
T329A |
probably benign |
Het |
| Hcn4 |
T |
A |
9: 58,731,558 (GRCm39) |
I255N |
unknown |
Het |
| Hk3 |
T |
G |
13: 55,158,824 (GRCm39) |
D485A |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,562,319 (GRCm39) |
T249A |
probably benign |
Het |
| Kcp |
C |
T |
6: 29,498,519 (GRCm39) |
|
probably benign |
Het |
| Kifc2 |
G |
T |
15: 76,550,481 (GRCm39) |
R515L |
possibly damaging |
Het |
| Kiss1r |
A |
G |
10: 79,756,584 (GRCm39) |
Y142C |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klrb1a |
T |
A |
6: 128,596,126 (GRCm39) |
I72L |
probably benign |
Het |
| Lep |
T |
A |
6: 29,070,862 (GRCm39) |
F62Y |
probably damaging |
Het |
| Lrtm1 |
A |
G |
14: 28,743,801 (GRCm39) |
T90A |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,865,872 (GRCm39) |
D1472V |
probably benign |
Het |
| Ncor2 |
G |
T |
5: 125,103,994 (GRCm39) |
P1988Q |
probably benign |
Het |
| Nlrp4a |
C |
T |
7: 26,149,917 (GRCm39) |
S508L |
probably benign |
Het |
| Obp2b |
T |
A |
2: 25,627,155 (GRCm39) |
D29E |
probably benign |
Het |
| Or10ag2 |
G |
A |
2: 87,249,012 (GRCm39) |
V207M |
possibly damaging |
Het |
| Or4c109 |
A |
G |
2: 88,818,444 (GRCm39) |
L34P |
possibly damaging |
Het |
| Or4c119 |
A |
T |
2: 88,986,801 (GRCm39) |
C239* |
probably null |
Het |
| Or4k15b |
T |
C |
14: 50,272,745 (GRCm39) |
I38M |
possibly damaging |
Het |
| Or6c3b |
A |
G |
10: 129,527,601 (GRCm39) |
I103T |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,527,483 (GRCm39) |
S1985P |
probably damaging |
Het |
| Oxct2a |
A |
T |
4: 123,216,886 (GRCm39) |
V165E |
probably damaging |
Het |
| Pcdhgb7 |
T |
C |
18: 37,886,150 (GRCm39) |
V440A |
possibly damaging |
Het |
| Pelp1 |
C |
A |
11: 70,292,487 (GRCm39) |
G211C |
probably damaging |
Het |
| Phox2a |
A |
G |
7: 101,471,312 (GRCm39) |
H268R |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,841,983 (GRCm39) |
|
probably null |
Het |
| Pramel1 |
T |
A |
4: 143,125,156 (GRCm39) |
M360K |
probably benign |
Het |
| Rbm6 |
C |
T |
9: 107,729,856 (GRCm39) |
R132K |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc45a1 |
T |
C |
4: 150,722,727 (GRCm39) |
T386A |
probably damaging |
Het |
| Smad2 |
A |
G |
18: 76,421,124 (GRCm39) |
Y151C |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,800,110 (GRCm39) |
G2188D |
probably benign |
Het |
| Sugt1 |
G |
A |
14: 79,840,341 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
T |
C |
19: 40,595,685 (GRCm39) |
S367G |
probably benign |
Het |
| Tead1 |
G |
T |
7: 112,460,752 (GRCm39) |
D219Y |
probably damaging |
Het |
| Tenm2 |
G |
T |
11: 35,938,028 (GRCm39) |
Y1548* |
probably null |
Het |
| Tenm3 |
T |
A |
8: 48,682,233 (GRCm39) |
I2466F |
possibly damaging |
Het |
| Tent4b |
C |
A |
8: 88,926,651 (GRCm39) |
H20Q |
possibly damaging |
Het |
| Tgm2 |
G |
A |
2: 157,971,358 (GRCm39) |
P294S |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,019,888 (GRCm39) |
S585P |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,566,806 (GRCm39) |
K491E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,621,895 (GRCm39) |
T15549I |
probably damaging |
Het |
| Vmn1r157 |
T |
C |
7: 22,461,183 (GRCm39) |
L21P |
probably damaging |
Het |
| Vmn2r81 |
A |
G |
10: 79,083,820 (GRCm39) |
M65V |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,345,433 (GRCm39) |
|
probably benign |
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 |
|
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'- TAACTAGGATCAGAGGGCTATTCC -3'
(R):5'- CAATGACCATCTGCTCCTGG -3'
Sequencing Primer
(F):5'- GGCTATTCCCATGAGACAAGTTC -3'
(R):5'- GGTTTATACCGGCAAGACCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation