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|Institutional Source||Beutler Lab|
|Gene Name||epithelial stromal interaction 1 (breast)|
|Synonyms||5033415K03Rik, 2310046K10Rik, BRESI1|
|Is this an essential gene?||Probably non essential (E-score: 0.052)|
|Stock #||R5392 (G1)|
|Chromosomal Location||77904239-78002657 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 77986744 bp|
|Amino Acid Change||Isoleucine to Threonine at position 272 (I272T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022591 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022591]|
|Predicted Effect||probably benign
AA Change: I272T
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: I272T
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has been shown to promote tumor invasion and metastasis in some invasive cancer cells when overexpressed. Expression of this gene has been shown to be upregulated by direct binding of the Kruppel like factor 8 protein to promoter sequences. The translated protein interacts with the amino terminal region of the valosin containing protein gene product, resulting in the nuclear translocation of the nuclear factor kappa B subunit 1 gene product, and activation of target genes. Overexpression of this gene has been observed in some breast cancers and in some individuals with systemic lupus erythematosus (SLE). [provided by RefSeq, Sep 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Epsti1||
(F):5'- AGCTATTCTGTTAGACTAAGCTGC -3'
(R):5'- CGCAGTTGGCATATCACAC -3'
(F):5'- TTTTGCTGCCTACTTATTGAAGG -3'
(R):5'- GTTGGCATATCACACATACTGTACCG -3'