|Institutional Source||Beutler Lab|
|Gene Name||SMAD family member 6|
|Synonyms||Madh6, b2b390Clo, Smad 6|
|Is this an essential gene?||Possibly essential (E-score: 0.599)|
|Stock #||R5010 (G1)|
|Chromosomal Location||63953076-64022059 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 63953900 bp|
|Amino Acid Change||Glutamine to Leucine at position 371 (Q371L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036285 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041029]|
|Predicted Effect||possibly damaging
AA Change: Q371L
PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: Q371L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2105|
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit hyperplasia of cardiac valves, septation defects, and usually, postnatal lethality. Survivors develop aortic ossification and hypertension as adults. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smad6||
(F):5'- CTGAGCGCTCAAAGTCGAAC -3'
(R):5'- TCCTATGCTTGCGTTGCAG -3'
(F):5'- GTCGAACACCTTGATGGAGTAACC -3'
(R):5'- TTGCAGATGCCAGCATGTC -3'