|Institutional Source||Beutler Lab|
|Gene Name||smoothelin-like 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6433 (G1)|
|Chromosomal Location||84811176-84822652 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 84818368 bp|
|Amino Acid Change||Serine to Alanine at position 181 (S181A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028471 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028471]|
The Solution Structure of Calponin Homology Domain from Smoothelin-like 1 [SOLUTION NMR]
HADDOCK-derived structure of the CH-domain of the smoothelin-like 1 complexed with the C-domain of apocalmodulin [SOLUTION NMR]
|Predicted Effect||probably benign
AA Change: S181A
PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: S181A
|Meta Mutation Damage Score||0.0672|
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the contraction of both striated and smooth muscle. During pregnancy, the encoded protein interacts with progesterone receptor to attenuate the expression of contractile and metabolic proteins. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit vascular and muscular adaptations normally found in exercised animals as well as increased exercise endurance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smtnl1||
(F):5'- TGTGTGTCCCTGTGTCAATACA -3'
(R):5'- CTGAACCCAATGAAGTTAGGGAGAAA -3'
(F):5'- GGACTGAAACCTTTGAAACCATGGTC -3'
(R):5'- AGAGGAGGCCATGCTGG -3'