|Institutional Source||Beutler Lab|
|Gene Name||SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5|
|Synonyms||D030040M08Rik, D330027N15Rik, 4933427E24Rik, MommeD4, Snf2h|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6972 (G1)|
|Chromosomal Location||80698507-80739497 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 80704751 bp|
|Amino Acid Change||Tyrosine to Histidine at position 946 (Y946H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044361 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043359]|
|Predicted Effect||probably damaging
AA Change: Y946H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y946H
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SWI/SNF family of proteins. 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 protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die during early embryonic development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smarca5||
(F):5'- TGCTGCATTACACAAACCTTG -3'
(R):5'- GACCCCATTTCTTGTAGTCACAAC -3'
(F):5'- TTGTACACTCACCATCGCAG -3'
(R):5'- CCCATTTCTTGTAGTCACAACAATAG -3'