|Institutional Source||Beutler Lab|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2086 (G1)|
|Chromosomal Location||61417972-61425338 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 61423298 bp|
|Amino Acid Change||Glutamic Acid to Aspartic acid at position 171 (E171D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039653 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049339]|
|Predicted Effect||possibly damaging
AA Change: E171D
PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: E171D
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
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 regulates early embryonic development. Homozygous knockout mice for this gene exhibit early embryonic lethality, while expression of a hypomorphic allele results in defects in anteroposterior and left-right patterning. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mutants fail to form a primitive streak, show placental defects and die at gastrulation. Hypomorphic mutants are defective in anterior-posterior, anterior-midline, and left-right body patterning, resulting in multiple organ defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nodal||
(F):5'- ATTTTCCACCAGGCCAAGG -3'
(R):5'- AAATGATGTCGGCGTTGCC -3'
(F):5'- CCAAGGGGGATCCAGAGC -3'
(R):5'- AGACAGCTGTCCCTCCTG -3'