Incidental Mutation 'IGL02224:Fbp1'
ID |
285275 |
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 # |
IGL02224
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
63012567-63036096 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 63035821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 13
(T13S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092888]
[ENSMUST00000134814]
|
AlphaFold |
Q9QXD6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092888
AA Change: T13S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090564 Gene: ENSMUSG00000069805 AA Change: T13S
Domain | Start | End | E-Value | Type |
Pfam:FBPase
|
12 |
334 |
7.3e-145 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134814
AA Change: T13S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115703 Gene: ENSMUSG00000069805 AA Change: T13S
Domain | Start | End | E-Value | Type |
Pfam:FBPase
|
12 |
57 |
3.6e-10 |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
T |
A |
13: 4,329,289 (GRCm39) |
T23S |
probably damaging |
Het |
Alpk3 |
G |
A |
7: 80,726,616 (GRCm39) |
|
probably benign |
Het |
Atp8b3 |
A |
G |
10: 80,361,810 (GRCm39) |
|
probably benign |
Het |
Atr |
C |
T |
9: 95,760,682 (GRCm39) |
R1051C |
probably damaging |
Het |
B4galt2 |
T |
C |
4: 117,734,110 (GRCm39) |
D309G |
probably benign |
Het |
C130026L21Rik |
A |
G |
5: 111,730,291 (GRCm39) |
|
noncoding transcript |
Het |
Cadm3 |
A |
G |
1: 173,165,628 (GRCm39) |
I344T |
possibly damaging |
Het |
Cd101 |
T |
C |
3: 100,924,318 (GRCm39) |
T370A |
probably benign |
Het |
Col6a5 |
A |
T |
9: 105,741,534 (GRCm39) |
S2462T |
probably damaging |
Het |
Csf3r |
A |
T |
4: 125,937,332 (GRCm39) |
N739Y |
probably benign |
Het |
Ensa |
T |
C |
3: 95,535,990 (GRCm39) |
S108P |
probably benign |
Het |
Fancd2 |
T |
A |
6: 113,545,281 (GRCm39) |
|
probably null |
Het |
Flrt2 |
C |
A |
12: 95,746,802 (GRCm39) |
T380K |
possibly damaging |
Het |
Gpatch11 |
T |
C |
17: 79,148,522 (GRCm39) |
|
probably benign |
Het |
Hagh |
A |
G |
17: 25,071,861 (GRCm39) |
D29G |
probably damaging |
Het |
Hmmr |
T |
C |
11: 40,600,831 (GRCm39) |
Q513R |
unknown |
Het |
Hoxb8 |
T |
C |
11: 96,173,981 (GRCm39) |
S65P |
probably benign |
Het |
Il4ra |
T |
C |
7: 125,169,271 (GRCm39) |
|
probably benign |
Het |
Lbp |
A |
G |
2: 158,148,669 (GRCm39) |
N27S |
probably damaging |
Het |
Msh4 |
G |
A |
3: 153,595,822 (GRCm39) |
T76I |
possibly damaging |
Het |
Nfat5 |
T |
C |
8: 108,071,447 (GRCm39) |
V281A |
probably benign |
Het |
Or10ag53 |
C |
T |
2: 87,082,821 (GRCm39) |
S180F |
probably benign |
Het |
Or13c25 |
A |
T |
4: 52,911,392 (GRCm39) |
V134D |
probably damaging |
Het |
Or4p20 |
C |
T |
2: 88,254,052 (GRCm39) |
|
probably null |
Het |
Or5b106 |
T |
A |
19: 13,123,120 (GRCm39) |
K301M |
probably damaging |
Het |
Or5w16 |
T |
A |
2: 87,576,757 (GRCm39) |
C72* |
probably null |
Het |
Phf11b |
A |
T |
14: 59,563,515 (GRCm39) |
|
probably benign |
Het |
Pik3c2a |
A |
G |
7: 115,962,575 (GRCm39) |
|
probably benign |
Het |
Prdx1 |
T |
A |
4: 116,549,064 (GRCm39) |
F66L |
probably damaging |
Het |
Prss39 |
A |
G |
1: 34,538,459 (GRCm39) |
H108R |
probably damaging |
Het |
Spta1 |
C |
A |
1: 174,045,255 (GRCm39) |
|
probably benign |
Het |
Tmem87b |
A |
G |
2: 128,676,127 (GRCm39) |
I297V |
possibly damaging |
Het |
Vmn1r191 |
T |
C |
13: 22,363,068 (GRCm39) |
R229G |
probably damaging |
Het |
Vmn2r113 |
A |
T |
17: 23,174,960 (GRCm39) |
R524* |
probably null |
Het |
Washc2 |
T |
A |
6: 116,197,530 (GRCm39) |
D254E |
possibly damaging |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
Zfp773 |
T |
C |
7: 7,135,975 (GRCm39) |
H207R |
probably benign |
Het |
|
Other mutations in Fbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02199:Fbp1
|
APN |
13 |
63,015,193 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |