|Institutional Source||Beutler Lab|
|Gene Name||DNA methyltransferase 1-associated protein 1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R9484 (G1)|
|Chromosomal Location||117674681-117682273 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 117676111 bp (GRCm38)|
|Amino Acid Change||Glutamine to Lysine at position 249 (Q249K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099748 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037127] [ENSMUST00000102687]|
AA Change: Q249K
PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: Q249K
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die prior to implantation with no 8-cell embryos detected. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dmap1||
(F):5'- AATACCCACTGAAGCTGGGG -3'
(R):5'- AGCGGCTTTACAACCGAAC -3'
(F):5'- ACCCTGTGCCAGATGACC -3'
(R):5'- CACGGCTCAGCTCTCAC -3'