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|Institutional Source||Beutler Lab|
|Gene Name||SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1|
|Synonyms||2810417B20Rik, BAF57, 9030408N19Rik, 5830412H02Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0524 (G1)|
|Chromosomal Location||99209047-99231017 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 99214062 bp|
|Amino Acid Change||Threonine to Methionine at position 263 (T263M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099422 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103133]|
|Predicted Effect||probably damaging
AA Change: T263M
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: T263M
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smarce1||
(F):5'- GGGTTCTATTACCTGAGGGCCTAGTC -3'
(R):5'- TGGATGCAAACTGGAGGATTTAGGGA -3'
(F):5'- TGAGGGCCTAGTCTTTATATGTATAC -3'
(R):5'- agttcagttcccagcacc -3'