|Institutional Source||Beutler Lab|
|Gene Name||suppressor of cytokine signaling 3|
|Synonyms||Cish3, SOCS-3, E2a-Pbx1 target gene in fibroblasts 10, STAT-induced STAT inhibitor 3, CIS3, SSI-3, cytokine-inducible SH2 protein 3, EF-10|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7311 (G1)|
|Chromosomal Location||117966079-117970047 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 117967788 bp|
|Amino Acid Change||Proline to Leucine at position 148 (P148L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059129 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000054002]|
solution structure of mouse socs3 in complex with a phosphopeptide from the gp130 receptor [SOLUTION NMR]
Crystal structure of SOCS3 in complex with gp130(pTyr757) phosphopeptide. [X-RAY DIFFRACTION]
SOCS box elonginBC ternary complex [SOLUTION NMR]
Crystal structure of inhibitory protein SOCS3 in complex with JAK2 kinase domain and fragment of GP130 intracellular domain [X-RAY DIFFRACTION]
|Predicted Effect||probably benign
AA Change: P148L
PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
AA Change: P148L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene is induced by various cytokines, including IL6, IL10, and interferon (IFN)-gamma. The protein encoded by this gene can bind to JAK2 kinase, and inhibit the activity of JAK2 kinase. Studies of the mouse counterpart of this gene suggested the roles of this gene in the negative regulation of fetal liver hematopoiesis, and placental development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations cause impairment if gene expression show immunological and hematopoetic abnormalities. Complete gene disruption causes lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Socs3||
(F):5'- CTGGGTCACTTTCTCATAGGAGTC -3'
(R):5'- AGCGCCACTTCTTCACGTTG -3'
(F):5'- CACTTTCTCATAGGAGTCCAGGTG -3'
(R):5'- TTGAGCGTCAAGACCCAGTC -3'