|Institutional Source||Beutler Lab|
|Gene Name||ring finger protein 19A|
|Synonyms||XY body protein, Dorfin, Rnf19, XYbp|
|Is this an essential gene?||Possibly non essential (E-score: 0.478)|
|Stock #||R2005 (G1)|
|Chromosomal Location||36239933-36283147 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 36241770 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 708 (F708I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022890 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022890] [ENSMUST00000228358]|
|Predicted Effect||possibly damaging
AA Change: F708I
PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: F708I
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rnf19a||
(F):5'- GTCGGTCGTTTTCTACCTCAGG -3'
(R):5'- TCCGACACAACAGTGGAAGC -3'
(F):5'- CCTCAGGAAGGGTGTTCACAG -3'
(R):5'- TGGATGACAGTGGTGCTACCC -3'