Incidental Mutation 'R3714:Fcsk'
| ID |
259796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcsk
|
| Ensembl Gene |
ENSMUSG00000033703 |
| Gene Name |
fucose kinase |
| Synonyms |
L-fucose kinase, 1110046B12Rik, Fuk |
| MMRRC Submission |
040707-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R3714 (G1)
|
| Quality Score |
183 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111609088-111629120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 111613891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 723
(D723E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041382]
[ENSMUST00000212971]
|
| AlphaFold |
Q7TMC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041382
AA Change: D723E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039271
Gene: ENSMUSG00000033703
AA Change: D723E
| 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 |
probably benign
Transcript: ENSMUST00000212971
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Abcd4 |
C |
T |
12: 84,658,533 (GRCm39) |
M223I |
probably benign |
Het |
| Adck5 |
G |
A |
15: 76,478,138 (GRCm39) |
V229I |
probably damaging |
Het |
| Afg2a |
G |
A |
3: 37,487,358 (GRCm39) |
V407I |
probably benign |
Het |
| Ankk1 |
T |
G |
9: 49,333,013 (GRCm39) |
D157A |
possibly damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,106,551 (GRCm39) |
I817T |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,890,287 (GRCm39) |
S260G |
probably benign |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Cibar2 |
C |
T |
8: 120,901,576 (GRCm39) |
R43H |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,199,062 (GRCm39) |
Q119* |
probably null |
Het |
| Cpb2 |
T |
A |
14: 75,520,657 (GRCm39) |
|
probably null |
Het |
| Ddx47 |
T |
A |
6: 134,996,025 (GRCm39) |
I329K |
probably damaging |
Het |
| Elavl3 |
G |
T |
9: 21,929,895 (GRCm39) |
D336E |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,793,829 (GRCm39) |
|
probably null |
Het |
| Garem1 |
T |
A |
18: 21,281,947 (GRCm39) |
E136D |
probably damaging |
Het |
| Haus6 |
A |
G |
4: 86,521,104 (GRCm39) |
I178T |
probably benign |
Het |
| Igkv3-2 |
T |
G |
6: 70,675,480 (GRCm39) |
V10G |
possibly damaging |
Het |
| Jrkl |
A |
C |
9: 13,244,236 (GRCm39) |
I475R |
possibly damaging |
Het |
| Lcmt1 |
C |
T |
7: 123,003,683 (GRCm39) |
H146Y |
probably damaging |
Het |
| Lipk |
A |
G |
19: 34,017,829 (GRCm39) |
N289S |
probably damaging |
Het |
| Mb |
A |
G |
15: 76,901,789 (GRCm39) |
V102A |
probably benign |
Het |
| Mc4r |
T |
A |
18: 66,992,892 (GRCm39) |
N74Y |
probably damaging |
Het |
| Mink1 |
G |
T |
11: 70,499,776 (GRCm39) |
R773L |
possibly damaging |
Het |
| Mroh2b |
A |
G |
15: 4,973,131 (GRCm39) |
I1045V |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
| Ndufs7 |
T |
C |
10: 80,088,255 (GRCm39) |
I14T |
probably benign |
Het |
| Nlrp4b |
T |
C |
7: 10,448,808 (GRCm39) |
V337A |
probably benign |
Het |
| Npm2 |
T |
C |
14: 70,890,060 (GRCm39) |
|
probably null |
Het |
| Or10ab4 |
T |
C |
7: 107,654,642 (GRCm39) |
F151S |
probably damaging |
Het |
| Or2h2c |
A |
G |
17: 37,422,227 (GRCm39) |
Y216H |
probably damaging |
Het |
| Or4a68 |
G |
A |
2: 89,269,727 (GRCm39) |
L299F |
probably damaging |
Het |
| Prdm9 |
T |
A |
17: 15,777,623 (GRCm39) |
K154* |
probably null |
Het |
| Prkch |
C |
T |
12: 73,822,290 (GRCm39) |
P630S |
probably damaging |
Het |
| Ptprn |
T |
C |
1: 75,229,411 (GRCm39) |
|
probably null |
Het |
| Rnf31 |
T |
A |
14: 55,840,851 (GRCm39) |
D884E |
probably damaging |
Het |
| Semp2l2a |
T |
G |
8: 13,886,736 (GRCm39) |
I452L |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,903,815 (GRCm39) |
N107K |
possibly damaging |
Het |
| Tln1 |
G |
T |
4: 43,540,597 (GRCm39) |
A1468D |
probably damaging |
Het |
| Tmem185b |
T |
A |
1: 119,454,781 (GRCm39) |
F181I |
possibly damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,958,351 (GRCm39) |
|
probably benign |
Het |
| Vmn1r218 |
A |
T |
13: 23,321,081 (GRCm39) |
N63Y |
probably damaging |
Het |
| Vps37c |
A |
G |
19: 10,683,632 (GRCm39) |
D18G |
probably 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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCGGCACACTATCCTCATG -3'
(R):5'- GGCAAGTCTATTCCCAGCTC -3'
Sequencing Primer
(F):5'- ATGGTCATCTCATCCTGCCGAG -3'
(R):5'- GGGGCTCCATGAGACTATCTTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation