|Institutional Source||Beutler Lab|
|Gene Name||elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5275 (G1)|
|Chromosomal Location||83778692-83806277 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 83780661 bp|
|Amino Acid Change||Proline to Leucine at position 273 (P273L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034796 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034796] [ENSMUST00000183614]|
|Predicted Effect||possibly damaging
AA Change: P273L
PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: P273L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1451|
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die before or around birth. Mice heterozygous for a null allele breed poorly and display mild retinal abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Elovl4||
(F):5'- AGTCTGAAGGGCAAAGACCC -3'
(R):5'- CATGAAATGTTCCCTGCTTCTG -3'
(F):5'- TCTGAAGGGCAAAGACCCTATCTG -3'
(R):5'- GTTTTTCAGGTCCAGTTCCACGTG -3'