|List |< first << previous [record 6 of 40] next >> last >||
|Institutional Source||Beutler Lab|
|Gene Name||ankyrin repeat and SOCS box-containing 2|
|Is this an essential gene?||Probably non essential (E-score: 0.082)|
|Stock #||R6605 (G1)|
|Chromosomal Location||103321142-103356001 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 103345684 bp|
|Amino Acid Change||Glutamine to Lysine at position 60 (Q60K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021617 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021617]|
|Predicted Effect||probably benign
AA Change: Q60K
PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: Q60K
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||92% (35/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a conditional cells activated in the immune system exhibit impaired immature dendritic cell migration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Asb2||
(F):5'- TATGTGAAAGACTTGGGCCACAG -3'
(R):5'- ATGGCGACTGAGATCTCCAC -3'
(F):5'- GGATCCCATCCCACTGTGAC -3'
(R):5'- ACTGAGATCTCCACTCGGG -3'