|Institutional Source||Beutler Lab|
|Gene Name||bone morphogenetic protein 6|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7669 (G1)|
|Chromosomal Location||38345107-38500302 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 38484920 bp|
|Amino Acid Change||Arginine to Leucine at position 293 (R293L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126999 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000171970] [ENSMUST00000223628]|
|Predicted Effect||probably damaging
AA Change: R293L
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: R293L
|Predicted Effect||probably benign
|Coding Region Coverage||
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 a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Mice lacking this gene exhibit delayed ossification of the sternum, iron overload, and reduced fertility in females. [provided by RefSeq, Jul 2016]
PHENOTYPE: One homozygous null mutant showed delayed ossification in the developing sternum while females of a second null mutant were smaller than normal in size. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bmp6||
(F):5'- TACAGTGACATCCAGGCAGAG -3'
(R):5'- CTGGGCTACAAACAATGGTCCC -3'
(F):5'- CATCCAGGCAGAGCAGTG -3'
(R):5'- TGGTCCCACCACAACCG -3'