|Institutional Source||Beutler Lab|
|Gene Name||SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1|
Genbank: NM_007958; MGI: 95453
|Essential gene?||Possibly non essential (E-score: 0.414)|
|Stock #||R4776 (G1)|
|Chromosomal Location||65042583-65116061 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 65098824 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Valine at position 731 (D731V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031984 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031984] [ENSMUST00000204620]|
AA Change: D731V
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: D731V
|Meta Mutation Damage Score||0.7324|
|Coding Region Coverage||
|Validation Efficiency||98% (94/96)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit retarded growth, impaired fertility, skeletal dysplasias, and peri- and postnatal lethality. Mutant phenotypes are influenced by genetic background. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smarcad1||
(F):5'- TTAGAAACCAGCAGACGAGC -3'
(R):5'- TGCATCATGACATTGCACATCTC -3'
(F):5'- CCAGCAGACGAGCAGAGTATATAC -3'
(R):5'- TCTACAGAGTGAGTTCCAGGAC -3'