Eltd1 - SNV Details



 Gene Information 
Gene Name Eltd1
Old Gene Names for Eltd1 1110033n21rik
Gene Description EGF, latrophilin seven transmembrane domain containing 1 [Source:MGI Symbol;Acc:MGI:2655562]
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; transmembrane signaling receptor activity; neuropeptide signaling pathway; protein binding; G-protein coupled receptor activity; protein dimerization activity; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; plasma membrane; calcium ion binding
Homolog in other species ELTD1
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, T.4MEM.SP)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039167
Chromosome 3
Coordinate 151,497,874     (Assembly: GRCm38)    
Ref Base T
Codon Change Tgt/Agt
Var Base A
Zygosity Heterozygous
Read Depth 44
Allele Frequency
T:R0.43
A:V0.57
Amino Acid Position 124
Amino Acid Change C->S (Cysteine -> Serine)
Sample ID IGL02324
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability