|Institutional Source||Beutler Lab|
|Gene Name||left right determination factor 1|
|Synonyms||lefty-1, Lefty, Stra3, Ebaf|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6362 (G1)|
|Chromosomal Location||180935022-180938400 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 180937160 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 217 (K217E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041427 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037361]|
|Predicted Effect||probably benign
AA Change: K217E
PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: K217E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1497|
|Coding Region Coverage||
|Validation Efficiency||99% (78/79)|
FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. Mice lacking a functional copy of this gene exhibit embryonic lethality and defects in left-right patterning. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null allele show embryonic and postnatal lethality, abnormal liver lobation, and a variety of left-right positional defects in visceral organs including left thoracic and atrial isomerism. A subset of mice homozygous for a differentnull allele show left pulmonary isomerism. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lefty1||
(F):5'- CAGATGATAGGGGTGTGTACC -3'
(R):5'- TAACAGTCAGAGGAAGCCTTTTC -3'
(F):5'- AGACGGGACAGACTCCTC -3'
(R):5'- AGGAAGCCTTTTCTAAATATTCTCAC -3'