|Institutional Source||Beutler Lab|
|Gene Name||ankyrin repeat and SOCS box-containing 4|
|Essential gene?||Probably non essential (E-score: 0.153)|
|Stock #||R9440 (G1)|
|Chromosomal Location||5383386-5433022 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 5429817 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Methionine at position 352 (I352M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040331 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043294]|
AA Change: I352M
PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: I352M
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes impaired placentation, embryonic growth arrest, reduced litter size, and pre-eclampsia like features including hypertension and albuminuria in late-stage pregnant females as well as renal defects including glomerular endotheliosis and mesangial expansion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Asb4||
(F):5'- GGTTGACTCACTGGTGACTC -3'
(R):5'- TCTCAGAGAAATTCCCAAGACTTC -3'
(F):5'- ACTCACTGGTGACTCTTGGTTG -3'
(R):5'- GAGAAATTCCCAAGACTTCCTATATC -3'