|Institutional Source||Beutler Lab|
|Gene Name||signal transducing adaptor molecule (SH3 domain and ITAM motif) 2|
|Synonyms||Hbp, 1200004O12Rik, 5730456G07Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0257 (G1)|
|Chromosomal Location||52691664-52742281 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 52694782 bp (GRCm38)|
|Amino Acid Change||Glycine to Aspartic acid at position 500 (G500D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099820 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102759] [ENSMUST00000127316]|
AA Change: G500D
PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: G500D
|Meta Mutation Damage Score||0.0721|
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal lymphocyte responses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Stam2||
(F):5'- GGTCAACTTCAAGCCAACTGGACTG -3'
(R):5'- TTTGCAGCACTGGACAGGACAC -3'
(F):5'- AACCTTTTATGGCCTTCAGGGTAAG -3'
(R):5'- ACTGGACAGGACACTGTCTC -3'