Incidental Mutation 'R2392:Fcsk'
| ID |
247810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcsk
|
| Ensembl Gene |
ENSMUSG00000033703 |
| Gene Name |
fucose kinase |
| Synonyms |
L-fucose kinase, 1110046B12Rik, Fuk |
| MMRRC Submission |
040360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R2392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
111609088-111629120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111616356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 453
(M453T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041382]
[ENSMUST00000212971]
|
| AlphaFold |
Q7TMC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041382
AA Change: M453T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039271
Gene: ENSMUSG00000033703
AA Change: M453T
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
96% (53/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,297,264 (GRCm39) |
S2409T |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,958,458 (GRCm39) |
F120S |
probably damaging |
Het |
| Akr1c6 |
A |
G |
13: 4,484,477 (GRCm39) |
|
probably null |
Het |
| Bptf |
C |
A |
11: 106,963,573 (GRCm39) |
A1874S |
probably damaging |
Het |
| Ccnl1 |
A |
G |
3: 65,856,173 (GRCm39) |
V244A |
probably damaging |
Het |
| Cenpe |
T |
G |
3: 134,953,874 (GRCm39) |
L1628R |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,860,873 (GRCm39) |
|
probably null |
Het |
| Chchd7 |
T |
A |
4: 3,943,381 (GRCm39) |
|
probably null |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Crybg2 |
G |
T |
4: 133,799,925 (GRCm39) |
V362L |
probably benign |
Het |
| Ddx11 |
T |
A |
17: 66,456,968 (GRCm39) |
V791E |
probably damaging |
Het |
| Disp1 |
G |
A |
1: 182,868,731 (GRCm39) |
P1230S |
probably benign |
Het |
| Elp5 |
T |
C |
11: 69,865,928 (GRCm39) |
H116R |
probably benign |
Het |
| Epb42 |
T |
C |
2: 120,860,468 (GRCm39) |
E177G |
possibly damaging |
Het |
| F13a1 |
T |
A |
13: 37,127,971 (GRCm39) |
I336F |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Hacd2 |
A |
T |
16: 34,926,748 (GRCm39) |
E249V |
probably benign |
Het |
| Hnrnpf |
C |
A |
6: 117,901,829 (GRCm39) |
A371D |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,065,683 (GRCm39) |
T1703A |
probably damaging |
Het |
| Kcnj13 |
G |
A |
1: 87,314,622 (GRCm39) |
T200I |
possibly damaging |
Het |
| Kif1b |
G |
A |
4: 149,305,077 (GRCm39) |
T949M |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,123,031 (GRCm39) |
A552T |
possibly damaging |
Het |
| Krt74 |
A |
G |
15: 101,665,236 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap14 |
T |
A |
16: 88,622,597 (GRCm39) |
|
probably null |
Het |
| Lrrc45 |
A |
G |
11: 120,610,365 (GRCm39) |
N492S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,601,580 (GRCm39) |
N114K |
probably damaging |
Het |
| Mfsd2b |
T |
C |
12: 4,915,164 (GRCm39) |
D375G |
possibly damaging |
Het |
| Mgat4a |
A |
G |
1: 37,537,785 (GRCm39) |
L44P |
probably damaging |
Het |
| Mttp |
A |
C |
3: 137,800,782 (GRCm39) |
D774E |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,116,521 (GRCm39) |
V1554A |
probably benign |
Het |
| Nes |
C |
T |
3: 87,883,250 (GRCm39) |
A503V |
probably benign |
Het |
| Nme8 |
A |
G |
13: 19,873,113 (GRCm39) |
|
probably null |
Het |
| Nr4a1 |
A |
G |
15: 101,172,075 (GRCm39) |
D583G |
possibly damaging |
Het |
| Or12d17 |
A |
G |
17: 37,777,310 (GRCm39) |
Y71C |
probably damaging |
Het |
| Or5k14 |
A |
G |
16: 58,692,797 (GRCm39) |
S239P |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,358,287 (GRCm39) |
L746I |
probably damaging |
Het |
| Ppp1r7 |
A |
T |
1: 93,282,063 (GRCm39) |
I205F |
probably benign |
Het |
| Psd4 |
C |
A |
2: 24,284,679 (GRCm39) |
P181Q |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,890,206 (GRCm39) |
V694I |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,456,268 (GRCm39) |
S1185P |
possibly damaging |
Het |
| Sec23b |
T |
A |
2: 144,427,507 (GRCm39) |
|
probably null |
Het |
| Slfn2 |
A |
G |
11: 82,956,154 (GRCm39) |
N12S |
possibly damaging |
Het |
| Slfn4 |
A |
G |
11: 83,076,248 (GRCm39) |
K38R |
possibly damaging |
Het |
| Smarca2 |
G |
T |
19: 26,618,050 (GRCm39) |
|
probably null |
Het |
| Taar4 |
A |
G |
10: 23,837,172 (GRCm39) |
T261A |
possibly damaging |
Het |
| Tbl2 |
A |
G |
5: 135,185,368 (GRCm39) |
D159G |
probably benign |
Het |
| Tmem120a |
T |
C |
5: 135,770,892 (GRCm39) |
E55G |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,037,794 (GRCm39) |
|
probably null |
Het |
| Vill |
A |
T |
9: 118,896,628 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,487,130 (GRCm39) |
M511K |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,110,516 (GRCm39) |
D543V |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,504,135 (GRCm39) |
T314A |
probably benign |
Het |
| Zbtb8b |
A |
G |
4: 129,326,982 (GRCm39) |
I61T |
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 |
|
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 |
|
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'- TGGGGAGAATCCAGCTGTTC -3'
(R):5'- AGGATTGTGCTCTAAATCCTAGG -3'
Sequencing Primer
(F):5'- TCCAGCTGTAGTGGGCCTAG -3'
(R):5'- TGCTCTAAATCCTAGGCATTTGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation