|Institutional Source||Beutler Lab|
|Gene Name||SMAD family member 9|
|Synonyms||SMAD8A, MADH6, SMAD8B, Madh9|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3622 (G1)|
|Chromosomal Location||54755582-54801257 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 54789284 bp|
|Amino Acid Change||Arginine to Tryptophan at position 257 (R257W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029371 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029371]|
|Predicted Effect||probably damaging
AA Change: R257W
PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: R257W
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (42/42)|
FUNCTION: This gene encodes a member of a family of proteins that act as downstream effectors of the bone morphogenetic protein (BMP) signaling pathway. The encoded protein is phosphorylated by BMP receptors, which stimulates its binding to SMAD4 and translocation into the nucleus, where it functions as a regulator of transcription. Activity of this protein is important for embryonic development. Mutation of this gene results in defects in pulmonary vasculature. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutant mice in which exon 3 was deleted are viable and fertile. Mutant mice in which a neo cassette is inserted in exon 3 resulting in a hypomorphic allele exhibit reduced midbrain and hindbrain. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smad9||
(F):5'- CTTCCTGTTGCAATCGTGAG -3'
(R):5'- AGGGCTTTCTAAAGGACCGC -3'
(F):5'- TTGCAATCGTGAGCTCCG -3'
(R):5'- GGCTTTCTAAAGGACCGCTTATAGC -3'