Incidental Mutation 'IGL02751:Fbp1'
ID |
306321 |
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 # |
IGL02751
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
63012567-63036096 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to C
at 63022957 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090564
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092888]
[ENSMUST00000134814]
[ENSMUST00000150013]
|
AlphaFold |
Q9QXD6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000092888
|
SMART Domains |
Protein: ENSMUSP00000090564 Gene: ENSMUSG00000069805
Domain | Start | End | E-Value | Type |
Pfam:FBPase
|
12 |
334 |
7.3e-145 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134814
|
SMART Domains |
Protein: ENSMUSP00000115703 Gene: ENSMUSG00000069805
Domain | Start | End | E-Value | Type |
Pfam:FBPase
|
12 |
57 |
3.6e-10 |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra1a |
A |
T |
14: 66,964,981 (GRCm39) |
I324F |
possibly damaging |
Het |
Ago2 |
G |
A |
15: 73,002,746 (GRCm39) |
A162V |
possibly damaging |
Het |
Aox4 |
G |
T |
1: 58,298,211 (GRCm39) |
R1059I |
probably damaging |
Het |
AU021092 |
C |
A |
16: 5,030,483 (GRCm39) |
V304L |
probably damaging |
Het |
Bcs1l |
T |
G |
1: 74,628,775 (GRCm39) |
F20V |
probably damaging |
Het |
Braf |
T |
C |
6: 39,637,801 (GRCm39) |
|
probably benign |
Het |
Cacna1a |
T |
C |
8: 85,296,581 (GRCm39) |
C1200R |
probably damaging |
Het |
Ccdc116 |
T |
A |
16: 16,959,836 (GRCm39) |
R284S |
probably benign |
Het |
Cntnap5a |
T |
G |
1: 116,112,187 (GRCm39) |
|
probably null |
Het |
Col12a1 |
A |
T |
9: 79,521,141 (GRCm39) |
|
probably benign |
Het |
Cpa4 |
T |
A |
6: 30,581,739 (GRCm39) |
Y229N |
probably damaging |
Het |
Gimap3 |
A |
T |
6: 48,742,172 (GRCm39) |
W253R |
probably benign |
Het |
Gm1330 |
G |
A |
2: 148,832,393 (GRCm39) |
|
probably benign |
Het |
Gm4841 |
A |
G |
18: 60,404,093 (GRCm39) |
|
probably benign |
Het |
Grip1 |
A |
G |
10: 119,814,482 (GRCm39) |
T338A |
probably benign |
Het |
Hmg20b |
A |
T |
10: 81,182,385 (GRCm39) |
|
probably benign |
Het |
Hnrnpdl |
A |
G |
5: 100,185,833 (GRCm39) |
F151L |
probably damaging |
Het |
Klhl30 |
T |
A |
1: 91,281,821 (GRCm39) |
F141I |
probably damaging |
Het |
Lamc3 |
T |
A |
2: 31,810,716 (GRCm39) |
F862Y |
probably benign |
Het |
Lap3 |
T |
C |
5: 45,662,138 (GRCm39) |
C313R |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,363,806 (GRCm39) |
T344A |
possibly damaging |
Het |
Mga |
A |
G |
2: 119,778,251 (GRCm39) |
E2023G |
possibly damaging |
Het |
Mical2 |
A |
T |
7: 111,931,243 (GRCm39) |
K735N |
probably benign |
Het |
Muc15 |
A |
G |
2: 110,562,118 (GRCm39) |
T185A |
probably benign |
Het |
Or12d17 |
T |
C |
17: 37,777,306 (GRCm39) |
C70R |
probably damaging |
Het |
Osbp2 |
T |
C |
11: 3,813,434 (GRCm39) |
K145R |
probably benign |
Het |
Pde1c |
T |
C |
6: 56,158,673 (GRCm39) |
T52A |
probably damaging |
Het |
Pidd1 |
A |
G |
7: 141,019,076 (GRCm39) |
S802P |
possibly damaging |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Prep |
T |
A |
10: 44,991,282 (GRCm39) |
I316N |
probably damaging |
Het |
Prl3d2 |
G |
A |
13: 27,310,014 (GRCm39) |
|
probably null |
Het |
Pygo1 |
A |
T |
9: 72,852,319 (GRCm39) |
I169F |
probably benign |
Het |
Rnf10 |
G |
T |
5: 115,380,725 (GRCm39) |
A716E |
probably benign |
Het |
Rtn4 |
G |
A |
11: 29,656,409 (GRCm39) |
|
probably null |
Het |
Ryr1 |
A |
T |
7: 28,778,199 (GRCm39) |
V2099E |
probably damaging |
Het |
Slc48a1 |
G |
A |
15: 97,687,961 (GRCm39) |
|
probably benign |
Het |
Spag17 |
T |
A |
3: 99,918,110 (GRCm39) |
Y364* |
probably null |
Het |
Syt3 |
A |
T |
7: 44,035,486 (GRCm39) |
D31V |
possibly damaging |
Het |
Tango2 |
G |
T |
16: 18,125,857 (GRCm39) |
P143H |
probably benign |
Het |
Tas2r104 |
A |
G |
6: 131,662,107 (GRCm39) |
S201P |
probably damaging |
Het |
Tas2r107 |
G |
A |
6: 131,636,447 (GRCm39) |
L201F |
probably damaging |
Het |
Vmn1r81 |
A |
T |
7: 11,994,374 (GRCm39) |
L78Q |
probably damaging |
Het |
Vmn2r18 |
T |
A |
5: 151,508,072 (GRCm39) |
T351S |
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 |
IGL02224:Fbp1
|
APN |
13 |
63,035,821 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |