|Institutional Source||Beutler Lab|
|Gene Name||RNA binding motif protein 28|
|Is this an essential gene?||Probably essential (E-score: 0.949)|
|Stock #||RF056 (G1)|
|Chromosomal Location||29123576-29165006 bp(-) (GRCm38)|
|Type of Mutation||frame shift|
|DNA Base Change (assembly)||AGCAACACCTCTCACCTGGGGCAGAAGCA to AGCAACACCTCTCACCTGGGGCAGAAGCAACACCTCTCACCTGGGGCAGAAGCA at 29157053 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000007993 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000007993]|
|Predicted Effect||probably null
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rbm28||
(F):5'- GGTATCTCCAGCCCAACATTCC -3'
(R):5'- AGAGGTGGCATTTCTCTGTC -3'
(F):5'- CTGGTCTACATAGCAAATTCCAGGAG -3'
(R):5'- AGGTGGCATTTCTCTGTCTCCAC -3'