|Institutional Source||Beutler Lab|
|Gene Name||spalt like transcription factor 1|
|Is this an essential gene?||Probably essential (E-score: 0.945)|
|Stock #||R7493 (G1)|
|Chromosomal Location||89027235-89044162 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 89031053 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 808 (D808N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034090 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034090]|
|Predicted Effect||probably benign
AA Change: D808N
PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: D808N
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit kidney agenesis or dysgenesis and die perinatally. Homozygotes expressing only a truncated protein show renal agenesis, exencephaly, and limb defects; heterozygotes have hearing loss and cystic kidneys. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sall1||
(F):5'- GATTTTCCAGAGCAGCGATG -3'
(R):5'- CAAGTGTAAGATCTGCGGCC -3'
(F):5'- ACAGGCTATCTTGGGAAG -3'
(R):5'- GGCCGGGCTTTCACCAC -3'