|Institutional Source||Beutler Lab|
|Gene Name||developmental pluripotency associated 4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0346 (G1)|
|Chromosomal Location||48283733-48294237 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 48289324 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000093749 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050705] [ENSMUST00000096045]|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit perinatal and postnatal lethality, abnormal lung morphology, skeletal defects, and a maternal effect on female fertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dppa4||
(F):5'- CCAGTGAACCTGATTCACCGAGATG -3'
(R):5'- AGAAGGGAGTCAAGGCAATCCCTC -3'
(F):5'- AGATGTTTTGCGGGCATGG -3'
(R):5'- tgcctttcatcccagcac -3'