|Institutional Source||Beutler Lab|
|Gene Name||RNA binding motif protein 19|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8432 (G1)|
|Chromosomal Location||120116465-120198981 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 120175926 bp|
|Amino Acid Change||Phenylalanine to Valine at position 868 (F868V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031590 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031590] [ENSMUST00000202777]|
Solution structure of the N-terminal RNA binding domain from hypothetical protein BAB23448 [SOLUTION NMR]
Solution structure of the second RNA binding domain from hypothetical protein BAB23448 [SOLUTION NMR]
Solution structure of the penultimate RNA recognition motif of hypothetical RNA-binding protein RBM19 [SOLUTION NMR]
Solution structure of the C-terminal RNA recognition motif of hypothetical RNA-binding protein RBM19 [SOLUTION NMR]
|Predicted Effect||probably damaging
AA Change: F868V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: F868V
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit failure to undergo compaction, growth arrest at the morula stage, and apoptosis such that no embryos are observed at E6.5. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rbm19||
(F):5'- TGTTCCCGCAGCTAGCAATC -3'
(R):5'- CATTCATGACAGACACGTGCAC -3'
(F):5'- TAGCAATCTCTGGTAACCGACGG -3'
(R):5'- AGCATGTACTACCTGGCCC -3'