Elf3 - SNV Details



 Gene Information 
Gene Name Elf3
Gene Description E74-like factor 3 [Source:MGI Symbol;Acc:MGI:1101781]
MGI phenotype About one third of mice homozygous for a reporter allele die at E11.5; over half of those born develop a wasted phenotype, lethargy and watery diarrhea and die during the first few weeks of life exhibiting dysmorphogenesis and altered differentiation of small intestinal epithelium.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; sequence-specific DNA binding; positive regulation of transcription
DNA-templated; transcription coactivator activity; transcription from RNA polymerase II promoter; regulation of transcription
DNA-templated; negative regulation of transcription
DNA-templated; positive regulation of transcription from RNA polymerase II promoter; RNA polymerase II core promoter proximal region sequence-specific DNA binding; sequence-specific DNA binding RNA polymerase II transcription factor activity; DNA binding; sequence-specific DNA binding transcription factor activity; blastocyst development; protein binding; inflammatory response; nucleus; anatomical structure morphogenesis; mammary gland involution; extracellular matrix organization; epithelial cell differentiation; Golgi apparatus; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
Homolog in other species ELF3
Omim http://omim.org/entry/602191
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN M1, BLASTOCYSTS, GI GROUP, EPITH GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000003051
Chromosome 1
Coordinate 135,256,065     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 40
Allele Frequency
C:R0.60
T:V0.40
Amino Acid Change E->K (Glutamic acid -> Lysine)
Sample ID IGL03018
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.07
Polyphen Prediction Benign

 Availability Details 
Availability