Incidental Mutation 'R6430:Fcsk'
ID |
518486 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcsk
|
Ensembl Gene |
ENSMUSG00000033703 |
Gene Name |
fucose kinase |
Synonyms |
L-fucose kinase, 1110046B12Rik, Fuk |
MMRRC Submission |
044568-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R6430 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
111609088-111629120 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111610748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 915
(V915A)
|
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 |
probably benign
Transcript: ENSMUST00000041382
AA Change: V915A
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000039271 Gene: ENSMUSG00000033703 AA Change: V915A
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 |
probably benign
Transcript: ENSMUST00000212971
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180679
|
Meta Mutation Damage Score |
0.1563 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (47/47) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI661453 |
C |
A |
17: 47,777,722 (GRCm39) |
|
probably benign |
Het |
Ank1 |
T |
A |
8: 23,622,125 (GRCm39) |
L1513Q |
probably damaging |
Het |
Ap2a1 |
C |
A |
7: 44,553,253 (GRCm39) |
V676L |
probably benign |
Het |
Arid2 |
T |
C |
15: 96,261,575 (GRCm39) |
V477A |
probably benign |
Het |
Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
B3gnt7 |
T |
C |
1: 86,233,839 (GRCm39) |
F362L |
possibly damaging |
Het |
Cd207 |
C |
T |
6: 83,652,869 (GRCm39) |
R87H |
probably benign |
Het |
Cdyl |
A |
G |
13: 36,055,589 (GRCm39) |
K503R |
possibly damaging |
Het |
Cep350 |
A |
G |
1: 155,770,419 (GRCm39) |
S1824P |
probably damaging |
Het |
Cmas |
T |
A |
6: 142,713,650 (GRCm39) |
M225K |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,081,153 (GRCm39) |
S396P |
possibly damaging |
Het |
Epg5 |
T |
C |
18: 78,019,100 (GRCm39) |
S958P |
probably damaging |
Het |
Espnl |
T |
C |
1: 91,249,970 (GRCm39) |
L39P |
possibly damaging |
Het |
Flacc1 |
T |
A |
1: 58,717,448 (GRCm39) |
K154N |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,544,345 (GRCm39) |
N438D |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,266,707 (GRCm39) |
C1932R |
probably damaging |
Het |
Jmjd1c |
C |
T |
10: 67,059,939 (GRCm39) |
T662I |
possibly damaging |
Het |
Kcng4 |
A |
G |
8: 120,359,789 (GRCm39) |
S196P |
probably damaging |
Het |
Kcnh7 |
T |
G |
2: 62,680,876 (GRCm39) |
H237P |
probably benign |
Het |
Klhl38 |
T |
C |
15: 58,185,707 (GRCm39) |
T341A |
probably benign |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Man2c1 |
T |
C |
9: 57,038,517 (GRCm39) |
V59A |
possibly damaging |
Het |
Nr2c1 |
A |
T |
10: 94,031,203 (GRCm39) |
H588L |
possibly damaging |
Het |
Or14a259 |
A |
T |
7: 86,013,181 (GRCm39) |
Y121* |
probably null |
Het |
Or2j3 |
T |
C |
17: 38,616,249 (GRCm39) |
I34M |
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,409,620 (GRCm39) |
E494G |
probably damaging |
Het |
Per1 |
T |
C |
11: 68,995,122 (GRCm39) |
L638S |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,306,261 (GRCm39) |
E603G |
probably benign |
Het |
Prss12 |
A |
T |
3: 123,273,243 (GRCm39) |
S280C |
probably damaging |
Het |
Pudp |
A |
G |
18: 50,701,307 (GRCm39) |
I142T |
probably benign |
Het |
Rabl6 |
A |
T |
2: 25,474,849 (GRCm39) |
N620K |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,039,809 (GRCm39) |
C837S |
probably null |
Het |
Slc16a7 |
A |
G |
10: 125,066,887 (GRCm39) |
S251P |
probably damaging |
Het |
Slc7a10 |
A |
G |
7: 34,897,083 (GRCm39) |
I195V |
probably benign |
Het |
Slc9a4 |
A |
T |
1: 40,640,014 (GRCm39) |
R269* |
probably null |
Het |
Slco6c1 |
T |
A |
1: 97,003,699 (GRCm39) |
Q466L |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,359,235 (GRCm39) |
N953S |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,061,329 (GRCm39) |
V527A |
probably benign |
Het |
Tln2 |
T |
C |
9: 67,179,947 (GRCm39) |
Y808C |
probably damaging |
Het |
Tmem145 |
T |
C |
7: 25,008,463 (GRCm39) |
L289P |
possibly damaging |
Het |
Trim3 |
A |
G |
7: 105,267,212 (GRCm39) |
V389A |
probably benign |
Het |
Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
Vps11 |
C |
A |
9: 44,272,847 (GRCm39) |
A28S |
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,374,945 (GRCm39) |
S802T |
probably benign |
Het |
Zmynd10 |
A |
T |
9: 107,425,911 (GRCm39) |
K82* |
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 |
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'- GGCATTCTGTACCACAACGG -3'
(R):5'- ATTCAGGGCCATGAAACAAGGC -3'
Sequencing Primer
(F):5'- AGCGTACCAGTTCCTCAGC -3'
(R):5'- CCATGAAACAAGGCTGGGTG -3'
|
Posted On |
2018-05-24 |