|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably essential (E-score: 0.970)|
|Stock #||R0391 (G1)|
|Chromosomal Location||19024377-19054618 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 19046849 bp (GRCm38)|
|Amino Acid Change||Leucine to Histidine at position 759 (L759H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023882 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023882] [ENSMUST00000146903]|
AA Change: L759H
PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: L759H
|Meta Mutation Damage Score||0.1162|
|Coding Region Coverage||
|Validation Efficiency||97% (97/100)|
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'- AGTCATCGTACCATTAGCACAGCAC -3'
(R):5'- TGGCAGGATCTGGGACTATGCTAAG -3'
(F):5'- GGTACAAACTCGTGTTTCAGACC -3'
(R):5'- ATCTGGGACTATGCTAAGTTTGCTC -3'