|Institutional Source||Beutler Lab|
|Gene Name||spalt like transcription factor 3|
|Synonyms||Msal, Spalt, Msal-1, Salt, B130022O04Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4874 (G1)|
|Chromosomal Location||80966376-80986578 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 80973973 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 247 (K247E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056967 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057950]|
|Predicted Effect||probably benign
AA Change: K247E
PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: K247E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||94% (51/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display neonatal lethality with an impaired suckling ability, truncated soft palate, small epiglottis, and abnormal cranial nerve morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sall3||
(F):5'- TTGCCTACAGTGCTGGATGC -3'
(R):5'- TAGTACCAATGTGACCCTGGAG -3'
(F):5'- TGTGCCCCAGAATCAGGG -3'
(R):5'- ACAGTTCTCACAGGGTGCAC -3'