|Institutional Source||Beutler Lab|
|Gene Name||ankyrin repeat and SOCS box-containing 7|
|Is this an essential gene?||Possibly essential (E-score: 0.660)|
|Stock #||R6463 (G1)|
|Chromosomal Location||66644565-66689596 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 66660236 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 77 (D77E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000122395 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000124899] [ENSMUST00000131320]|
|Predicted Effect||probably damaging
AA Change: D77E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D77E
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.026|
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Asb7||
(F):5'- GGGTCAACTTCAGCCTTGAAC -3'
(R):5'- GAATGTGCTTTCCACTGAGAC -3'
(F):5'- TTCAGCCTTGAACTCCAGGAG -3'
(R):5'- CACTTAATACTGTGTTAAGCCTGGGC -3'