|Institutional Source||Beutler Lab|
|Gene Name||tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide|
|Synonyms||14-3-3 beta, 1300003C17Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0019 (G1)|
|Chromosomal Location||163994960-164018588 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 164016170 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 219 (I219N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018470 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018470] [ENSMUST00000131288]|
|Predicted Effect||probably damaging
AA Change: I219N
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: I219N
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9736|
|Coding Region Coverage||
|Validation Efficiency||98% (43/44)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ywhab||
(F):5'- AAGTGGATTCTACACCGTGAGCCC -3'
(R):5'- TGACTGACAAGGCATAAAGTCCAGC -3'
(F):5'- gtgtgtgtgtgtgtgAGATATG -3'
(R):5'- GCATAAAGTCCAGCAGTAAGATAC -3'