|Institutional Source||Beutler Lab|
|Gene Name||small nuclear ribonucleoprotein B|
|Synonyms||SNRNP-B, SM-B, SMB, SM11|
|Is this an essential gene?||Probably essential (E-score: 0.967)|
|Stock #||R3622 (G1)|
|Chromosomal Location||130171414-130179403 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 130175379 bp (GRCm38)|
|Amino Acid Change||Arginine to Leucine at position 73 (R73L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099488 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103199] [ENSMUST00000147570]|
AA Change: R73L
PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: R73L
|Meta Mutation Damage Score||0.9447|
|Coding Region Coverage||
|Validation Efficiency||100% (42/42)|
|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 one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Snrpb||
(F):5'- ACTCACTGGCAAGGTAGCTG -3'
(R):5'- TGGCTTGGTAGGAAACAGCTATC -3'
(F):5'- CTCACTGGCAAGGTAGCTGTTTTAAG -3'
(R):5'- ATCACTTAGCCTGGGGTACTGAC -3'