|Institutional Source||Beutler Lab|
|Gene Name||embryonal Fyn-associated substrate|
|Essential gene?||Probably non essential (E-score: 0.102)|
|Stock #||R9703 (G1)|
|Chromosomal Location||54916535-54926126 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 54919414 bp (GRCm38)|
|Amino Acid Change||Valine to Glutamic Acid at position 388 (V388E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022813 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022813] [ENSMUST00000227037] [ENSMUST00000227587]|
AA Change: V388E
PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V388E
AA Change: V295E
PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The function of this gene is unknown. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a disruption in this gene display an increased inflammatory response characterized by excessive T cell responses, enhanced cytokine secretion and antibody production, and intestinal, kidney, liver, and lung inflammation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Efs||
(F):5'- ATGTATTTAGTCCTGCCCGC -3'
(R):5'- TAGCTTGGGACTCCAGCACTAG -3'
(F):5'- CCCTGTCTCACCGATGGC -3'
(R):5'- TAGCCCACACCACTTGAGTG -3'