|Institutional Source||Beutler Lab|
|Gene Name||RNA binding motif protein 45|
|Synonyms||G430095G15Rik, Drbp1, Drb1|
|Is this an essential gene?||Probably essential (E-score: 0.947)|
|Stock #||R0382 (G1)|
|Chromosomal Location||76369984-76383768 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 76370211 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 28 (I28N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040420 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046389]|
|Predicted Effect||possibly damaging
AA Change: I28N
PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: I28N
|Meta Mutation Damage Score||0.4834|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
|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 RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer's patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rbm45||
(F):5'- AGATTGCTGAGTCCACCGTGGC -3'
(R):5'- TGTTCCCAGGGTAAGAGGCTCC -3'
(F):5'- AAGCGGAGCTGCTTACC -3'
(R):5'- AGGCACTGTCCGTGCATC -3'