|Institutional Source||Beutler Lab|
|Gene Name||growth differentiation factor 11|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1988 (G1)|
|Chromosomal Location||128882295-128891718 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 128885242 bp|
|Amino Acid Change||Asparagine to Serine at position 361 (N361S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026408 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026408]|
|Predicted Effect||probably benign
AA Change: N361S
PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: N361S
|Meta Mutation Damage Score||0.1011|
|Coding Region Coverage||
|Validation Efficiency||96% (79/82)|
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 each subunit of the disulfide-linked homodimer. This protein plays a role in the development of the nervous and other organ systems, and may regulate aging. Mice lacking a functional copy of this gene exhibit impaired anteroposterior patterning and other developmental defects. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for a null allele die neonatally showing altered patterning of the axial skeleton and impaired renal, palate, stomach, spleen and pancreatic development. A second null allele also alters retinal and olfactory epithelium neurogenesis. A third null allele causes extra thoracic vertebrae. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gdf11||
(F):5'- CTCTAGGGCTTGAGGAATGG -3'
(R):5'- TGGACTGCGATGAACACTCG -3'
(F):5'- CCAGGGCTGGGGTTCTTG -3'
(R):5'- TCGAGTGAGTCCCGCTG -3'