|Institutional Source||Beutler Lab|
|Gene Name||SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1|
|Synonyms||Snf5, SNF5/INI1, integrase interactor 1, Ini1, Baf47|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5157 (G1)|
|Chromosomal Location||75896769-75921617 bp(-) (GRCm38)|
|Type of Mutation||intron|
|DNA Base Change (assembly)||G to T at 75911794 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000123093 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000925] [ENSMUST00000121304] [ENSMUST00000140388] [ENSMUST00000146555]|
AA Change: T45K
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
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 a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous inactivation of this gene leads to peri-implantation lethality, likely due to an inability of the blastocysts to hatch and implant in the uterus. A subset of heterozygous null mice develop a variety of tumors in the soft tissues of the head and neck. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smarcb1||
(F):5'- GACCCACTGGCTGTTCCTC -3'
(R):5'- TGCAGTGTGGGAATAGAACG -3'
(F):5'- ACTGGCTGTTCCTCTTGGC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'