|Institutional Source||Beutler Lab|
|Gene Name||siah E3 ubiquitin protein ligase 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6738 (G1)|
|Chromosomal Location||58674938-58692400 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 58691553 bp|
|Amino Acid Change||Valine to Alanine at position 88 (V88A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000067496 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070368]|
|Predicted Effect||probably benign
AA Change: V88A
PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: V88A
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1084|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
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 regulating cellular response to hypoxia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Siah2||
(F):5'- GGCTGGACTTACCTTACAGG -3'
(R):5'- ACACGTGTCTTAGCGTCAC -3'
(F):5'- TTACCTTACAGGGAAACAGAACTG -3'
(R):5'- AGGTCCATGGTGGGCTC -3'