|Institutional Source||Beutler Lab|
|Gene Name||bone morphogenetic protein 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4609 (G1)|
|Chromosomal Location||70474558-70520234 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 70477966 bp (GRCm38)|
|Amino Acid Change||Valine to Methionine at position 910 (V910M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022693 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022693] [ENSMUST00000226906] [ENSMUST00000227944]|
AA Change: V910M
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: V910M
|Meta Mutation Damage Score||0.0830|
|Coding Region Coverage||
|Validation Efficiency||99% (78/79)|
FUNCTION: This gene encodes a metalloproteinase that plays an essential role in the formation of the extracellular matrix and is also able to induce ectopic bone formation. Unlike other bone morphogenetic proteins, the protein encoded by this gene is not closely related to transforming growth factor-beta. This protein plays in role several developmental processes. In humans, mutations in this gene are associated with osteogenesis imperfecta and with increased bone mineral density and multiple recurrent fractures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous targeted mutant embryos have reduced ossification of the skull, persistent herniation of the gut, abnormal collagen fibrils in the amnion, and die at birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bmp1||
(F):5'- TCCACTCAGCCTAGTACCCTAG -3'
(R):5'- ATCATCACACACTGATCGGTC -3'
(F):5'- TAGTACCCTAGGTCTCCAGGGATG -3'
(R):5'- ATCGGTCATCAGTGGTGATCAATC -3'