|Institutional Source||Beutler Lab|
|Gene Name||SEC14-like lipid binding 2|
|Synonyms||Spf, tap, 1300013M05Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.155)|
|Stock #||R7594 (G1)|
|Chromosomal Location||4097039-4123415 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 4111213 bp|
|Amino Acid Change||Tyrosine to Histidine at position 83 (Y83H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003681 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003681]|
|Predicted Effect||probably damaging
AA Change: Y83H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y83H
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
|MGI Phenotype||Strain: 3771069
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased cholesterol synthesis and plasma levels under fasting conditions compared to wild-type mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sec14l2||
(F):5'- TGGTCTGCTGGATACACTCC -3'
(R):5'- TGAGGACAAATTATCCCACTCC -3'
(F):5'- TGGATACACTCCTGCAGAAGC -3'
(R):5'- GACTCACAGTTCATATCATGGCTG -3'