|Institutional Source||Beutler Lab|
|Gene Name||embryonal Fyn-associated substrate|
|Is this an essential gene?||Probably non essential (E-score: 0.153)|
|Stock #||R8166 (G1)|
|Chromosomal Location||54916535-54926126 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 54920620 bp|
|Amino Acid Change||Arginine to Glutamine at position 108 (R108Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022813 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022813]|
|Predicted Effect||probably damaging
AA Change: R108Q
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: R108Q
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
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'- CTCTGCAATAGACTAGCCCTG -3'
(R):5'- ATACAGGTTTGCAGGGAGATCC -3'
(F):5'- ATAGACTAGCCCTGTGAATTCTGGC -3'
(R):5'- GAGATCCTGACTGAGACCTTGAC -3'