|Institutional Source||Beutler Lab|
|Gene Name||ELAV like RNA binding protein 3|
|Synonyms||2600009P04Rik, Huc, mHuC|
|Is this an essential gene?||Possibly non essential (E-score: 0.407)|
|Stock #||R4791 (G1)|
|Chromosomal Location||22015005-22052023 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 22024678 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 249 (K249E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000149816 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003501] [ENSMUST00000215901]|
|Predicted Effect||possibly damaging
AA Change: K250E
PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: K250E
AA Change: K79E
|Predicted Effect||probably damaging
AA Change: K249E
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit strain-specific preweaning lethality, abnormal cortical hypersynchronization and non-convulsive electropgraphic seizure. Mice heterozygous for the allele exhibit abnormal brain wave pattern and spike wave discharge. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Elavl3||
(F):5'- ATGATCCTTCCAAAGCTGCTC -3'
(R):5'- CCCAAATGAGTGAGGTTCCG -3'
(F):5'- CGAGACATTGGCTCTGCTCATAG -3'
(R):5'- AATGAGTGAGGTTCCGTGCCAG -3'