|Institutional Source||Beutler Lab|
|Gene Name||retrotransposon Gaglike 1|
|Synonyms||Mart1, Mor1, Mar|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7020 (G1)|
|Chromosomal Location||109589193-109600330 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 109592315 bp|
|Amino Acid Change||Glutamine to Arginine at position 1030 (Q1030R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000115957 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000149046]|
|Predicted Effect||possibly damaging
AA Change: Q1030R
PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: Q1030R
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several microRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice heterozygous for a paternally inherited knock-out allele exhibit fetal/neonatal lethality associated with underdevelopment of the placenta. Mice heteroygous for a maternally inherited knock-out allele exhibit neonatal lethality and decreased survival associated with placental overdevelopment. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rtl1||
(F):5'- GCTCTGAACTCAGCAGTTGTC -3'
(R):5'- TCTGACGAAGGGAACAACATTG -3'
(F):5'- GAACTCAGCAGTTGTCTCACTAGG -3'
(R):5'- TGTTCACTTCATCCTAAAAGACATCC -3'