|Institutional Source||Beutler Lab|
|Gene Name||siah E3 ubiquitin protein ligase 1A|
|Is this an essential gene?||Probably essential (E-score: 0.952)|
|Stock #||R6870 (G1)|
|Chromosomal Location||86724007-86745934 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 86725025 bp|
|Amino Acid Change||Valine to Alanine at position 277 (V277A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044123 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045296] [ENSMUST00000155433]|
|Predicted Effect||possibly damaging
AA Change: V277A
PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: V277A
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||72% (39/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit retarded postnatal growth, and high preweaning and postweaning mortality. Surviving females are subfertile, having few, if any, offspring, while males are sterile due to a block at meiotic metaphase I. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Siah1a||
(F):5'- GTTACTACATGCAACTGTTTCCTG -3'
(R):5'- GCAATTGTACAACTGATAGGAACACG -3'
(F):5'- ACATGCAACTGTTTCCTGTATTAAC -3'
(R):5'- CGCAAGCAAGCTGAAAATTTTGC -3'