Foxa1 - SNV Details



 Gene Information 
Gene Name Foxa1
Old Gene Names for Foxa1 Hnf-3a , Tcf-3a , Tcf3a , Hnf3a
Gene Description forkhead box A1 [Source:MGI Symbol;Acc:MGI:1347472]
MGI phenotype Homozygotes for targeted null mutations exhibit abnormal feeding, hypoglycemia, impaired glucagon secretion, hypotryglyceridemia, wasting, and lethality between postnatal days 2 and 14.
Uniprot Name
CCDS Name
Gene GO
sequence-specific DNA binding; negative regulation of epithelial to mesenchymal transition; neuron fate specification; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of intracellular estrogen receptor signaling pathway; prostate gland epithelium morphogenesis; positive regulation of transcription from RNA polymerase II promoter; regulation of sequence-specific DNA binding transcription factor activity; prostate gland stromal morphogenesis; tube morphogenesis; DNA binding; sequence-specific DNA binding transcription factor activity; transcription factor complex; regulation of gene expression; double-stranded DNA binding; epithelial tube branching involved in lung morphogenesis; transcription regulatory region DNA binding; secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development; hormone metabolic process; nucleus; response to estradiol stimulus; protein domain specific binding; epithelial cell maturation involved in prostate gland development; lung development; regulation of transcription
DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; pattern specification process; lung epithelial cell differentiation; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; positive regulation of mitotic cell cycle; transcription factor binding; DNA binding
bending; embryo development; glucose homeostasis; chromatin remodeling; epithelial-mesenchymal signaling involved in prostate gland development; positive regulation of neuron differentiation
Homolog in other species FOXA1
Omim http://omim.org/entry/602294
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, KIDNEY, LIVER, SALIVARYGLAND, THYROID, GI GROUP, MEDIALOLFACTORYEPITHELIUM.MOE, VOMERALNASALORGAN.VMO, SEPTAL.ORGAN,SEPTUM..RESP.EPITH, TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035451
Chromosome 12
Coordinate 57,542,700     (Assembly: GRCm38)    
Ref Base T
Codon Change Acg/Gcg
Var Base C
Zygosity Heterozygous
Read Depth 87
Allele Frequency
T:R0.57
C:V0.42
Amino Acid Position 245
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02371
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.81
Polyphen Prediction Possibly damaging
Sift Score 0.2
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved