Elk3 - SNV Details



 Gene Information 
Gene Name Elk3
Old Gene Names for Elk3 D430049e23rik
Gene Description ELK3, member of ETS oncogene family [Source:MGI Symbol;Acc:MGI:101762]
MGI phenotype Mice homozygous for a targeted mutation develop a vascular defect associated with embryonic lymphangiectasis and Egr1 upregulation in the heart and pulmonary arteries at E18.5. A large proportion of homozygotes die postnatally due to respiratory failure resulting from chylothorax.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; mitochondrion; sequence-specific DNA binding; 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; wound healing; sequence-specific DNA binding RNA polymerase II transcription factor activity; transcription corepressor activity; DNA binding; sequence-specific DNA binding transcription factor activity; intracellular membrane-bounded organelle; angiogenesis; regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; purine-rich negative regulatory element binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
Homolog in other species ELK3
Omim http://omim.org/entry/600247
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000008398
Chromosome 10
Coordinate 93,254,821     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 10
Allele Frequency
A:R0.40
T:V0.60
Amino Acid Change Disrupted splicing
Splice Position 10
Sample ID IGL03251
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved