Pfkfb3 - SNV Details



 Gene Information 
Gene Name Pfkfb3
Old Gene Names for Pfkfb3 E330010h22rik
Gene Description 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 [Source:MGI Symbol;Acc:MGI:2181202]
MGI phenotype Homozygous null mice display embryonic lethality before E8
Uniprot Name
CCDS Name
Gene GO
dephosphorylation; carbohydrate phosphorylation; fructose metabolic process; fructose 2
6-bisphosphate metabolic process; fructose-2
6-bisphosphate 2-phosphatase activity; ATP binding; 6-phosphofructo-2-kinase activity; brain development
Homolog in other species PFKFB3
Omim http://omim.org/entry/605319
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM.G2, LYMPHNODE, C2C12, UMBLICALCORD, OSTEO GROUP, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G3, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026773
Chromosome 2
Coordinate 11,501,663     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 11
Allele Frequency
A:R0.55
T:V0.46
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL03182
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved