|Institutional Source||Beutler Lab|
|Gene Name||paternally expressed 10|
|Synonyms||HB-1, MyEF-3, Mart2, Mar2, MyEF-3 like, MEF3L, Edr|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8281 (G1)|
|Chromosomal Location||4747306-4760517 bp(+) (GRCm38)|
|Type of Mutation||small deletion (18 aa in frame mutation)|
|DNA Base Change (assembly)||CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC to CATC at 4756431 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000135076 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000166678] [ENSMUST00000176204] [ENSMUST00000176551]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
|Validation Efficiency||98% (44/45)|
FUNCTION: This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a CCHC-type zinc finger domain) from RF1; and a longer, gag/pol-like fusion protein (with an additional aspartic protease motif) from RF1/RF2 by -1 translational frameshifting (-1 FS). While -1 FS has been observed in RNA viruses and transposons in both prokaryotes and eukaryotes, this gene represents the first example of -1 FS in a eukaryotic cellular gene. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation, apoptosis and cancer development. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. [provided by RefSeq, Oct 2014]
PHENOTYPE: Heterozygous mice with a paternally inherited null allele display embryonic lethality during organogenesis with abnormal placental development. Heterozygous mice with a maternally inherited null allele are viable and fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Peg10||
(F):5'- TGTTTACAGTGCCACAACCG -3'
(R):5'- TGAATCCAGCCATGTGGTAGAAG -3'
(F):5'- TCAGCATGAGCATCTGCATG -3'
(R):5'- TCCAGCCATGTGGTAGAAGAATGG -3'