|Institutional Source||Beutler Lab|
|Gene Name||stabilin 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7215 (G1)|
|Chromosomal Location||31139013-31168641 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 31160797 bp|
|Amino Acid Change||Asparagine to Lysine at position 416 (N416K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046199 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036618]|
|Predicted Effect||possibly damaging
AA Change: N416K
PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: N416K
|Meta Mutation Damage Score||0.1479|
|Coding Region Coverage||
|Validation Efficiency||98% (79/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Stab1||
(F):5'- CCTGCATTCTCCAGCATGTG -3'
(R):5'- CCCATGCTAGCCATCTAGAC -3'
(F):5'- TCCCCTGCGATGACATGCTG -3'
(R):5'- TGCTAGCCATCTAGACCCATCG -3'