|Institutional Source||Beutler Lab|
|Gene Name||snail family zinc finger 2|
|Synonyms||Snail2, Slug, Slugh|
|Is this an essential gene?||Probably essential (E-score: 0.907)|
|Stock #||R4682 (G1)|
|Chromosomal Location||14705852-14709385 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 14708286 bp|
|Amino Acid Change||Valine to Alanine at position 267 (V267A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023356 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023356]|
|Predicted Effect||probably benign
AA Change: V267A
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: V267A
|Meta Mutation Damage Score||0.0585|
|Coding Region Coverage||
|Validation Efficiency||94% (45/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in growth retardation and eyelid deformities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Snai2||
(F):5'- GGAAAAGCCTTTCTCTTGCCC -3'
(R):5'- GATGCAATGTGCTTTTCACTTCATC -3'
(F):5'- TTGCCCTCACTGCAATAGGG -3'
(R):5'- GTGCTTTTCACTTCATCTTTAAAGAG -3'