|Institutional Source||Beutler Lab|
|Gene Name||scavenger receptor class F, member 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6289 (G1)|
|Chromosomal Location||75513540-75526582 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 75525416 bp|
|Amino Acid Change||Tryptophan to Arginine at position 472 (W472R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000114090 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042808] [ENSMUST00000118243] [ENSMUST00000123819]|
|Predicted Effect||possibly damaging
AA Change: W472R
PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: W472R
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells. It regulates the uptake of chemically modified low density lipoproteins, including acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous null mice are viable and fertile with no abnormalities detected in plasma glucose, cholesterol, or triglycerides, or in the brain, lung, heart, kidney, liver, or testes. Mice homozygous for a targeted allele exhibit impaired clearance of apoptotic cells and autoimmune disease. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Scarf1||
(F):5'- CAGTGTGCAGTGGATCAAAGC -3'
(R):5'- ACCTCTGGAGAGTCTCTTGG -3'
(F):5'- TGCAGTGGATCAAAGCAAGGATG -3'
(R):5'- CCTCTGGAGAGTCTCTTGGGTTTTC -3'