Incidental Mutation 'IGL02199:Fbp1'
| ID |
284237 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbp1
|
| Ensembl Gene |
ENSMUSG00000069805 |
| Gene Name |
fructose bisphosphatase 1 |
| Synonyms |
Fbp3, FBPase brain isoform, Fbp-2, FBPase liver |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
IGL02199
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
63012567-63036096 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63015193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 262
(I262T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092888]
[ENSMUST00000150013]
|
| AlphaFold |
Q9QXD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092888
AA Change: I262T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090564
Gene: ENSMUSG00000069805
AA Change: I262T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FBPase
|
12 |
334 |
7.3e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150013
|
| SMART Domains |
Protein: ENSMUSP00000117146
Gene: ENSMUSG00000069805
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FBPase
|
1 |
71 |
5.3e-35 |
PFAM |
|
Pfam:FBPase
|
70 |
130 |
2.7e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Aspg |
T |
C |
12: 112,087,426 (GRCm39) |
V294A |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,907,957 (GRCm39) |
|
probably benign |
Het |
| Celf5 |
T |
A |
10: 81,318,318 (GRCm39) |
D41V |
possibly damaging |
Het |
| Clcn3 |
T |
A |
8: 61,386,126 (GRCm39) |
K282* |
probably null |
Het |
| Clcn3 |
T |
A |
8: 61,380,308 (GRCm39) |
T543S |
possibly damaging |
Het |
| Ctsj |
T |
A |
13: 61,150,351 (GRCm39) |
N216I |
probably damaging |
Het |
| Dusp28 |
A |
G |
1: 92,835,280 (GRCm39) |
|
probably benign |
Het |
| Gata4 |
A |
G |
14: 63,437,912 (GRCm39) |
V413A |
possibly damaging |
Het |
| Glb1 |
A |
G |
9: 114,303,015 (GRCm39) |
N617S |
probably benign |
Het |
| Gm454 |
T |
A |
5: 138,202,285 (GRCm39) |
|
noncoding transcript |
Het |
| Hesx1 |
A |
G |
14: 26,723,481 (GRCm39) |
S104G |
probably benign |
Het |
| Igf2bp3 |
T |
C |
6: 49,065,458 (GRCm39) |
N478S |
probably benign |
Het |
| Klrk1 |
T |
C |
6: 129,598,207 (GRCm39) |
|
probably null |
Het |
| Lamb2 |
A |
G |
9: 108,357,824 (GRCm39) |
T116A |
possibly damaging |
Het |
| Mbd2 |
T |
C |
18: 70,726,371 (GRCm39) |
V270A |
probably damaging |
Het |
| Meis2 |
C |
T |
2: 115,830,737 (GRCm39) |
V259I |
probably benign |
Het |
| Mtcl2 |
A |
T |
2: 156,872,865 (GRCm39) |
L882Q |
probably damaging |
Het |
| Ngly1 |
T |
A |
14: 16,290,844 (GRCm38) |
I442K |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 90,344,686 (GRCm39) |
L409P |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,926,775 (GRCm39) |
V1175I |
possibly damaging |
Het |
| Parp12 |
C |
T |
6: 39,073,524 (GRCm39) |
A434T |
probably benign |
Het |
| Prrt3 |
G |
A |
6: 113,471,770 (GRCm39) |
P801S |
probably damaging |
Het |
| Rps6ka2 |
G |
T |
17: 7,521,852 (GRCm39) |
|
probably benign |
Het |
| Slc18a1 |
C |
A |
8: 69,496,632 (GRCm39) |
V344L |
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,890,034 (GRCm39) |
T2103S |
probably damaging |
Het |
| Stoml2 |
A |
G |
4: 43,029,366 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
G |
12: 91,505,057 (GRCm39) |
L73R |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,080,779 (GRCm39) |
Q786* |
probably null |
Het |
|
| Other mutations in Fbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02224:Fbp1
|
APN |
13 |
63,035,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02751:Fbp1
|
APN |
13 |
63,022,957 (GRCm39) |
splice site |
probably null |
|
|
IGL02887:Fbp1
|
APN |
13 |
63,016,894 (GRCm39) |
missense |
probably benign |
|
|
fruko
|
UTSW |
13 |
63,023,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Fbp1
|
UTSW |
13 |
63,015,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0400:Fbp1
|
UTSW |
13 |
63,012,882 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0656:Fbp1
|
UTSW |
13 |
63,019,099 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1672:Fbp1
|
UTSW |
13 |
63,015,245 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2420:Fbp1
|
UTSW |
13 |
63,019,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2422:Fbp1
|
UTSW |
13 |
63,019,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3859:Fbp1
|
UTSW |
13 |
63,012,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4474:Fbp1
|
UTSW |
13 |
63,023,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4990:Fbp1
|
UTSW |
13 |
63,012,888 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4991:Fbp1
|
UTSW |
13 |
63,012,888 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4992:Fbp1
|
UTSW |
13 |
63,012,888 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5656:Fbp1
|
UTSW |
13 |
63,023,010 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6463:Fbp1
|
UTSW |
13 |
63,012,824 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7381:Fbp1
|
UTSW |
13 |
63,012,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7448:Fbp1
|
UTSW |
13 |
63,020,564 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8309:Fbp1
|
UTSW |
13 |
63,016,831 (GRCm39) |
missense |
probably benign |
|
|
R8318:Fbp1
|
UTSW |
13 |
63,012,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8781:Fbp1
|
UTSW |
13 |
63,016,831 (GRCm39) |
missense |
probably benign |
|
|
R8962:Fbp1
|
UTSW |
13 |
63,023,067 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9605:Fbp1
|
UTSW |
13 |
63,019,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation