|Institutional Source||Beutler Lab|
|Gene Name||ankyrin repeat and SOCS box-containing 4|
|Is this an essential gene?||Probably non essential (E-score: 0.178)|
|Stock #||R4067 (G1)|
|Chromosomal Location||5383386-5433022 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 5423651 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 266 (V266E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040331 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043294]|
|Predicted Effect||probably damaging
AA Change: V266E
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: V266E
|Meta Mutation Damage Score||0.1151|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
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'- TTGCCTTCTACGTGGAGAAC -3'
(R):5'- TCACCTTGTGGAACTGTGGG -3'
(F):5'- CATCGTGGATAGCATGAACGCC -3'
(R):5'- GGGGTAGATGCGCGCAG -3'