|Institutional Source||Beutler Lab|
|Gene Name||helicase-like transcription factor|
|Synonyms||P113, Snf2l3, Smarca3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5296 (G1)|
|Chromosomal Location||20057811-20118490 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 20108112 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 825 (S825P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002502 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002502] [ENSMUST00000143005] [ENSMUST00000145853]|
AA Change: S825P
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: S825P
|Meta Mutation Damage Score||0.2986|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, spongiform encephalopathy with increased brain apoptosis, and hypoglycemia. Mice homozygous for a different knock-out allele fail to show fluoxetine-induced neurogenesis and behavioral responses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hltf||
(F):5'- TTCAGGTACAGGTTGATCTCAAG -3'
(R):5'- GCAGGACTCATTGAACAAATCTCC -3'
(F):5'- GGTACAGGTTGATCTCAAGTAAATG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'