|Institutional Source||Beutler Lab|
|Gene Name||growth differentiation factor 9|
|Is this an essential gene?||Probably non essential (E-score: 0.170)|
|Stock #||R7650 (G1)|
|Chromosomal Location||53431023-53437904 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 53437098 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 294 (E294K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018382 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018382]|
|Predicted Effect||probably benign
AA Change: E294K
PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: E294K
|Coding Region Coverage||
|Validation Efficiency||100% (80/80)|
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 regulates ovarian function. Female mice that are homozygous null for this gene are sterile with impaired folliculogenesis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Females homozygous for a targeted null mutation are sterile with a block in folliculogenesis. Mutant oocytes exhibit perinuclear organelle aggregation, unusual Golgi complexes, absence of cortical granules, and impaired granulosa cell connections. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gdf9||
(F):5'- GGAGCATTCACCTGTCTGTC -3'
(R):5'- GTCCCATTTGAGCTGACTAAAAC -3'
(F):5'- TTTACATGCACAAAAGACCAGGTG -3'
(R):5'- CTCAGTCTGAAGTCATGGAGTTCAC -3'