Incidental Mutation 'R4474:Fbp1'
| ID |
330497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbp1
|
| Ensembl Gene |
ENSMUSG00000069805 |
| Gene Name |
fructose bisphosphatase 1 |
| Synonyms |
Fbp3, FBPase brain isoform, Fbp-2, FBPase liver |
| MMRRC Submission |
041731-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
R4474 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
63012567-63036096 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63023075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 74
(L74P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092888]
[ENSMUST00000134814]
[ENSMUST00000150013]
|
| AlphaFold |
Q9QXD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092888
AA Change: L74P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090564
Gene: ENSMUSG00000069805
AA Change: L74P
| 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 |
|
| Meta Mutation Damage Score |
0.9750 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
95% (36/38) |
| 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 |
|---|
| Abca6 |
A |
T |
11: 110,124,598 (GRCm39) |
I397K |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,146,865 (GRCm39) |
A2795D |
probably damaging |
Het |
| Cdk19 |
G |
A |
10: 40,345,952 (GRCm39) |
|
probably null |
Het |
| Cep104 |
T |
A |
4: 154,073,693 (GRCm39) |
M476K |
possibly damaging |
Het |
| Csf1 |
T |
C |
3: 107,661,172 (GRCm39) |
D115G |
probably damaging |
Het |
| Dclre1b |
C |
A |
3: 103,714,559 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hydin |
G |
T |
8: 111,290,497 (GRCm39) |
V3319L |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,126,352 (GRCm39) |
N362S |
probably benign |
Het |
| Kif13a |
C |
T |
13: 46,967,631 (GRCm39) |
|
probably null |
Het |
| Lingo2 |
T |
C |
4: 35,708,810 (GRCm39) |
E390G |
probably benign |
Het |
| Mdh1 |
T |
G |
11: 21,516,624 (GRCm39) |
D33A |
possibly damaging |
Het |
| Mov10 |
C |
T |
3: 104,725,781 (GRCm39) |
G21D |
probably damaging |
Het |
| Muc21 |
G |
T |
17: 35,931,496 (GRCm39) |
|
probably benign |
Het |
| Or4f56 |
G |
A |
2: 111,703,784 (GRCm39) |
R139W |
possibly damaging |
Het |
| Or7g32 |
T |
A |
9: 19,408,173 (GRCm39) |
L43Q |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,610,749 (GRCm39) |
Y332N |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,325,956 (GRCm39) |
S763G |
probably damaging |
Het |
| Sarm1 |
T |
A |
11: 78,387,927 (GRCm39) |
I120L |
probably benign |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,546,256 (GRCm39) |
|
probably benign |
Het |
| Tmem150a |
C |
T |
6: 72,334,035 (GRCm39) |
S39F |
probably benign |
Het |
| Tsc2 |
T |
A |
17: 24,816,238 (GRCm39) |
H1605L |
probably damaging |
Het |
| Ugt1a10 |
TAAAAAAAAA |
TAAAAAAA |
1: 88,143,650 (GRCm39) |
|
probably benign |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,507 (GRCm39) |
L820P |
probably damaging |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,924 (GRCm39) |
N97D |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCCATGAAGCTGAGAAGG -3'
(R):5'- TGAGCTTTCCAAACAGTGTCTC -3'
Sequencing Primer
(F):5'- CTTCCATGAAGCTGAGAAGGAAAATG -3'
(R):5'- GCAAGTCCACCCTCCGTTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation