Incidental Mutation 'IGL02136:Fpgt'
| ID |
281333 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fpgt
|
| Ensembl Gene |
ENSMUSG00000053870 |
| Gene Name |
fucose-1-phosphate guanylyltransferase |
| Synonyms |
1700016E03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL02136
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
154790552-154799024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 154798989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 2
(A2E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029833]
[ENSMUST00000066568]
[ENSMUST00000192383]
[ENSMUST00000194376]
|
| AlphaFold |
G5E8F4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029833
|
| SMART Domains |
Protein: ENSMUSP00000029833
Gene: ENSMUSG00000028182
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dcea3
|
36 |
155 |
3e-14 |
SMART |
|
Blast:LRR
|
71 |
94 |
3e-6 |
BLAST |
|
Blast:LRR
|
96 |
118 |
1e-5 |
BLAST |
|
IQ
|
214 |
236 |
3.68e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066568
AA Change: A2E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068939
Gene: ENSMUSG00000053870
AA Change: A2E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
92 |
N/A |
INTRINSIC |
|
Pfam:Fucokinase
|
106 |
524 |
1.8e-147 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192247
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192383
|
| SMART Domains |
Protein: ENSMUSP00000141372
Gene: ENSMUSG00000028182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
50 |
109 |
9e-9 |
PFAM |
|
Pfam:LRR_4
|
72 |
117 |
1.9e-8 |
PFAM |
|
Pfam:LRR_1
|
73 |
94 |
5.1e-3 |
PFAM |
|
IQ
|
214 |
236 |
3.68e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194899
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195505
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194376
|
| SMART Domains |
Protein: ENSMUSP00000142127
Gene: ENSMUSG00000028182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
50 |
109 |
7.2e-9 |
PFAM |
|
Pfam:LRR_4
|
72 |
117 |
1.5e-8 |
PFAM |
|
Pfam:LRR_1
|
73 |
94 |
4.2e-3 |
PFAM |
|
IQ
|
214 |
236 |
3.68e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream TNNI3 interacting kinase (TNNI3K) gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,286,301 (GRCm39) |
T2511K |
probably damaging |
Het |
| Acta2 |
T |
A |
19: 34,229,230 (GRCm39) |
D53V |
probably damaging |
Het |
| Banf1 |
G |
A |
19: 5,415,098 (GRCm39) |
A71V |
probably benign |
Het |
| Cacng5 |
A |
T |
11: 107,772,557 (GRCm39) |
I97N |
probably benign |
Het |
| Clec14a |
T |
A |
12: 58,315,415 (GRCm39) |
E69V |
probably damaging |
Het |
| Cracr2a |
T |
C |
6: 127,606,893 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,085,149 (GRCm39) |
R845G |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,747,945 (GRCm39) |
N949S |
possibly damaging |
Het |
| Eprs1 |
T |
G |
1: 185,117,180 (GRCm39) |
W408G |
probably damaging |
Het |
| Fgf14 |
G |
A |
14: 124,217,784 (GRCm39) |
P240S |
possibly damaging |
Het |
| Galntl5 |
T |
A |
5: 25,425,060 (GRCm39) |
S392R |
probably benign |
Het |
| Gatd1 |
A |
G |
7: 140,988,873 (GRCm39) |
*221Q |
probably null |
Het |
| Gcsam |
T |
A |
16: 45,430,896 (GRCm39) |
M1K |
probably null |
Het |
| Ksr2 |
A |
G |
5: 117,754,959 (GRCm39) |
N351S |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,130,693 (GRCm39) |
V503A |
probably damaging |
Het |
| Myl12a |
T |
A |
17: 71,303,851 (GRCm39) |
K9* |
probably null |
Het |
| Ncapg2 |
A |
T |
12: 116,424,203 (GRCm39) |
M1129L |
probably benign |
Het |
| Or11g2 |
T |
C |
14: 50,855,708 (GRCm39) |
S10P |
possibly damaging |
Het |
| Or8k41 |
T |
C |
2: 86,313,809 (GRCm39) |
I92M |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,531,336 (GRCm39) |
K1691E |
possibly damaging |
Het |
| Pdk4 |
A |
T |
6: 5,486,715 (GRCm39) |
M353K |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,345,839 (GRCm39) |
W2730R |
probably damaging |
Het |
| Pkn2 |
T |
A |
3: 142,559,351 (GRCm39) |
K58I |
probably damaging |
Het |
| Plk5 |
T |
C |
10: 80,199,001 (GRCm39) |
|
probably null |
Het |
| Prkcq |
T |
C |
2: 11,265,479 (GRCm39) |
F399L |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 22,972,821 (GRCm39) |
V244M |
probably damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,868,659 (GRCm39) |
F361L |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,064,252 (GRCm39) |
L1168I |
possibly damaging |
Het |
| S100a9 |
T |
C |
3: 90,600,075 (GRCm39) |
H107R |
probably benign |
Het |
| Serpinb3a |
T |
A |
1: 106,974,015 (GRCm39) |
M299L |
probably benign |
Het |
| Slfn8 |
G |
A |
11: 82,894,291 (GRCm39) |
Q783* |
probably null |
Het |
| Smc3 |
T |
C |
19: 53,624,147 (GRCm39) |
I721T |
probably benign |
Het |
| Top2b |
C |
A |
14: 16,407,103 (GRCm38) |
|
probably benign |
Het |
| Uvssa |
T |
A |
5: 33,549,192 (GRCm39) |
W351R |
probably damaging |
Het |
| Vmn2r107 |
G |
T |
17: 20,595,168 (GRCm39) |
V574L |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,046,041 (GRCm39) |
R931* |
probably null |
Het |
|
| Other mutations in Fpgt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Fpgt
|
APN |
3 |
154,797,129 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01412:Fpgt
|
APN |
3 |
154,792,359 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01860:Fpgt
|
APN |
3 |
154,792,483 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01977:Fpgt
|
APN |
3 |
154,793,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02331:Fpgt
|
APN |
3 |
154,793,499 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03106:Fpgt
|
APN |
3 |
154,792,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:Fpgt
|
UTSW |
3 |
154,792,422 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2072:Fpgt
|
UTSW |
3 |
154,793,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4287:Fpgt
|
UTSW |
3 |
154,796,997 (GRCm39) |
unclassified |
probably benign |
|
|
R4607:Fpgt
|
UTSW |
3 |
154,792,333 (GRCm39) |
nonsense |
probably null |
|
|
R4608:Fpgt
|
UTSW |
3 |
154,792,333 (GRCm39) |
nonsense |
probably null |
|
|
R4873:Fpgt
|
UTSW |
3 |
154,793,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4875:Fpgt
|
UTSW |
3 |
154,793,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Fpgt
|
UTSW |
3 |
154,793,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7134:Fpgt
|
UTSW |
3 |
154,797,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Fpgt
|
UTSW |
3 |
154,792,612 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7505:Fpgt
|
UTSW |
3 |
154,792,413 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7521:Fpgt
|
UTSW |
3 |
154,792,765 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7690:Fpgt
|
UTSW |
3 |
154,793,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Fpgt
|
UTSW |
3 |
154,792,747 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7815:Fpgt
|
UTSW |
3 |
154,792,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8061:Fpgt
|
UTSW |
3 |
154,792,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9017:Fpgt
|
UTSW |
3 |
154,792,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9298:Fpgt
|
UTSW |
3 |
154,792,695 (GRCm39) |
nonsense |
probably null |
|
|
R9375:Fpgt
|
UTSW |
3 |
154,792,934 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2015-04-16 |
Incidental Mutation