|Institutional Source||Beutler Lab|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1481 (G1)|
|Chromosomal Location||134702593-134747323 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 134706572 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 786 (K786E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015138 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015138] [ENSMUST00000201856]|
|Predicted Effect||probably damaging
AA Change: K786E
PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: K786E
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0719|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
|MGI Phenotype||Strain: 2153007
Lethality: 3- 4
FUNCTION: This gene encodes elastin, the extracellular matrix protein that forms a major structural component of several tissues including lungs and arterial walls. Cleavage of the signal peptide from the encoded precursor generates soluble tropoelastin which undergoes lysine-derived crosslinking to form elastin polymers. Mice lacking the encoded protein exhibit defective lung development, and die of an obstructive arterial disease resulting from subendothelial cell proliferation and reorganization of smooth muscle. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for null allele die in the early postnatal period of an obstructive arterial disease. They exhibit a decrease in arterial diameter due to subendothelial accumulation of arterial smooth muscle, and display defective terminal airway development resulting in emphysematous morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Eln||
(F):5'- GTTTCCAGAACCCCACTGATTGTCC -3'
(R):5'- TGGAGTTCATTCCTAGCACCAGAGAG -3'
(F):5'- ATACCTCCACCTGGGAATGG -3'
(R):5'- CAGAGACTATTAGAAAGATGGGTGTG -3'