Incidental Mutation 'R4404:Fcsk'
| ID |
326762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcsk
|
| Ensembl Gene |
ENSMUSG00000033703 |
| Gene Name |
fucose kinase |
| Synonyms |
L-fucose kinase, 1110046B12Rik, Fuk |
| MMRRC Submission |
041133-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R4404 (G1)
|
| Quality Score |
106 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111609088-111629120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111616933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 406
(T406S)
|
| 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: T406S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039271
Gene: ENSMUSG00000033703
AA Change: T406S
| 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 |
probably benign
Transcript: ENSMUST00000212971
AA Change: T406S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc188 |
A |
G |
16: 18,036,284 (GRCm39) |
Q153R |
probably damaging |
Het |
| Cimap3 |
G |
A |
3: 105,908,684 (GRCm39) |
P7L |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,404,866 (GRCm39) |
L1721* |
probably null |
Het |
| Fer |
A |
T |
17: 64,248,284 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,464,489 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
T |
C |
2: 28,716,761 (GRCm39) |
D813G |
probably damaging |
Het |
| Hars2 |
G |
T |
18: 36,918,989 (GRCm39) |
C83F |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,789,513 (GRCm39) |
S251P |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,236,972 (GRCm39) |
T1070A |
probably benign |
Het |
| Il22ra1 |
A |
T |
4: 135,464,742 (GRCm39) |
E149D |
possibly damaging |
Het |
| Lama3 |
G |
A |
18: 12,715,588 (GRCm39) |
M1681I |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,518,828 (GRCm39) |
G1878D |
probably damaging |
Het |
| Mcc |
G |
A |
18: 44,892,365 (GRCm39) |
T83M |
probably benign |
Het |
| Nol11 |
A |
T |
11: 107,064,551 (GRCm39) |
C468S |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,706,092 (GRCm39) |
N482S |
probably benign |
Het |
| Npy5r |
C |
T |
8: 67,134,644 (GRCm39) |
V50I |
probably benign |
Het |
| Or8g21 |
T |
C |
9: 38,905,865 (GRCm39) |
I289V |
possibly damaging |
Het |
| Pam |
T |
C |
1: 97,782,446 (GRCm39) |
|
probably benign |
Het |
| Pank4 |
C |
T |
4: 155,064,613 (GRCm39) |
T724I |
probably benign |
Het |
| Pramel34 |
T |
A |
5: 93,785,572 (GRCm39) |
H236L |
possibly damaging |
Het |
| Sertm1 |
C |
T |
3: 54,806,746 (GRCm39) |
C93Y |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,833,651 (GRCm39) |
T444A |
probably damaging |
Het |
| Trpm7 |
C |
A |
2: 126,675,635 (GRCm39) |
L489F |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Usp25 |
A |
C |
16: 76,912,341 (GRCm39) |
K1020T |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,877,511 (GRCm39) |
T511A |
probably benign |
Het |
| Zdhhc15 |
G |
A |
X: 103,604,294 (GRCm39) |
R322* |
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 |
|
|
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'- TGCTCAGAAACCCTGTGATAGG -3'
(R):5'- AAGTGTCCTGCAGCACTGTC -3'
Sequencing Primer
(F):5'- TAGGACAGAGGCAGACCCCTG -3'
(R):5'- TGCAGCACTGTCACCTGAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation