|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably essential (E-score: 0.964)|
|Stock #||R4638 (G1)|
|Chromosomal Location||19024377-19054618 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 19043460 bp|
|Amino Acid Change||Arginine to Leucine at position 545 (R545L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023882 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023882] [ENSMUST00000146903]|
|Predicted Effect||possibly damaging
AA Change: R545L
PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: R545L
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2518|
|Coding Region Coverage||
|Validation Efficiency||91% (40/44)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sympk||
(F):5'- TACTGCAAGCCCTGTTCAGC -3'
(R):5'- GCTAAGGGCTAGTACCACAG -3'
(F):5'- GAGACACACTCCATGGCAG -3'
(R):5'- GGGCTAGTACCACAGGAACTTTTC -3'