|Institutional Source||Beutler Lab|
|Gene Name||SAM and SH3 domain containing 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7464 (G1)|
|Chromosomal Location||8722219-8886070 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 8756745 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glycine at position 242 (D242G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015449 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015449] [ENSMUST00000212553] [ENSMUST00000212869]|
|AlphaFold||no structure available at present|
AA Change: D242G
PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: D242G
AA Change: D10G
PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
AA Change: D6G
PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|Coding Region Coverage||
|Validation Efficiency||96% (79/82)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sash1||
(F):5'- TTCTTTCCGAAGAACCAGGGAG -3'
(R):5'- CAGCTATATTAGGCCATCCCAGAG -3'
(F):5'- AACCAGGGAGAAGTTTGCCCC -3'
(R):5'- ATTAGGCCATCCCAGAGTATGTG -3'