|Institutional Source||Beutler Lab|
|Gene Name||mago homolog, exon junction complex core component|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8233 (G1)|
|Chromosomal Location||107879755-107887424 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 107880935 bp|
|Amino Acid Change||Valine to Glycine at position 44 (V44G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030348 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030348]|
|Predicted Effect||possibly damaging
AA Change: V44G
PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: V44G
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Drosophila that have mutations in their mago nashi (grandchildless) gene produce progeny with defects in germplasm assembly and germline development. This gene encodes the mammalian mago nashi homolog. In mammals, mRNA expression is not limited to the germ plasm, but is expressed ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutation in this gene is embryonic lethal and heterozygous mice are postnatal lethal with incomplete penetrance with reduced body size and microcephaly. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Magoh||
(F):5'- GGACTCTAGTTTACTGTCAGGTCC -3'
(R):5'- AGCTTTTGATTCAGCACTGGG -3'
(F):5'- CACTACTATCACAGCTGGGAAATGG -3'
(R):5'- AAGTGCTCGCTTCCTACA -3'