|Institutional Source||Beutler Lab|
|Gene Name||RNA binding motif protein 15|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3432 (G1)|
|Chromosomal Location||107325421-107333673 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 107330677 bp|
|Amino Acid Change||Serine to Threonine at position 802 (S802T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054424 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061772]|
|Predicted Effect||probably benign
AA Change: S802T
PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: S802T
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0700|
|Coding Region Coverage||
|Validation Efficiency||98% (44/45)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality around E9.5. Mice homozygous for a floxed allele activate in hematopoietic cells exhibit increased megakaryocyte cell number, long-term hematopoietic stem cells, and red pulp as well as decreased B cells and leukocytes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rbm15||
(F):5'- TCCAGGTACAGCCAGGAGAATG -3'
(R):5'- TAGGAAGCATCGGACAGCTG -3'
(F):5'- ATCTTGAGTTGGGCCACT -3'
(R):5'- GACAGCTGCTCCCACAGAG -3'