Incidental Mutation 'IGL01777:Magoh'
ID 154129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Magoh
Ensembl Gene ENSMUSG00000028609
Gene Name mago homolog, exon junction complex core component
Synonyms Mago-m, Mos2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01777
Quality Score
Status
Chromosome 4
Chromosomal Location 107736952-107744621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 107740373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 86 (Q86K)
Ref Sequence ENSEMBL: ENSMUSP00000030348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030348]
AlphaFold P61327
Predicted Effect probably benign
Transcript: ENSMUST00000030348
AA Change: Q86K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000030348
Gene: ENSMUSG00000028609
AA Change: Q86K

DomainStartEndE-ValueType
Pfam:Mago_nashi 5 146 7.5e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141376
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 59,932,205 (GRCm39) V240A possibly damaging Het
Aftph A T 11: 20,676,554 (GRCm39) C352S possibly damaging Het
Cand2 T C 6: 115,769,818 (GRCm39) V876A probably damaging Het
Ccar1 T C 10: 62,616,356 (GRCm39) I125V possibly damaging Het
Celsr3 A T 9: 108,713,141 (GRCm39) M1858L probably benign Het
Csmd3 A T 15: 47,561,594 (GRCm39) N2134K probably benign Het
Dhx29 A G 13: 113,067,406 (GRCm39) I96V probably benign Het
Dst A G 1: 34,238,478 (GRCm39) T3727A probably benign Het
Elavl4 T A 4: 110,063,858 (GRCm39) probably null Het
Eno2 C T 6: 124,743,600 (GRCm39) G113D probably damaging Het
Esf1 A C 2: 139,999,092 (GRCm39) probably null Het
Frmd4b T C 6: 97,272,905 (GRCm39) D783G probably benign Het
Grin2a C T 16: 9,461,994 (GRCm39) V713I probably benign Het
Impa1 C T 3: 10,388,008 (GRCm39) G138D probably damaging Het
Kcnt2 A G 1: 140,523,736 (GRCm39) T1079A probably benign Het
Kmt2a A G 9: 44,760,302 (GRCm39) S549P probably damaging Het
Moxd1 C A 10: 24,128,494 (GRCm39) T182K probably benign Het
Or5p55 A G 7: 107,566,709 (GRCm39) Y35C probably damaging Het
Pramel25 T G 4: 143,521,688 (GRCm39) C435G possibly damaging Het
Rab3b A T 4: 108,786,607 (GRCm39) Q119L probably damaging Het
Snap47 T A 11: 59,312,477 (GRCm39) probably null Het
Taar3 A G 10: 23,825,903 (GRCm39) R150G probably benign Het
Tas2r102 C T 6: 132,739,815 (GRCm39) T241I probably damaging Het
Tas2r114 C T 6: 131,666,664 (GRCm39) W121* probably null Het
Trak1 G A 9: 121,260,626 (GRCm39) probably null Het
Ubn1 T C 16: 4,890,013 (GRCm39) V426A possibly damaging Het
Vmn1r40 T C 6: 89,691,204 (GRCm39) L7P probably benign Het
Vmn2r43 T C 7: 8,258,272 (GRCm39) I314V probably damaging Het
Vrtn T G 12: 84,695,696 (GRCm39) S149A probably benign Het
Other mutations in Magoh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Magoh APN 4 107,742,203 (GRCm39) unclassified probably benign
R0508:Magoh UTSW 4 107,742,195 (GRCm39) missense possibly damaging 0.79
R1164:Magoh UTSW 4 107,744,459 (GRCm39) missense probably benign 0.37
R1694:Magoh UTSW 4 107,740,362 (GRCm39) missense probably benign 0.09
R3116:Magoh UTSW 4 107,744,409 (GRCm39) missense possibly damaging 0.94
R7609:Magoh UTSW 4 107,744,409 (GRCm39) missense possibly damaging 0.94
R8233:Magoh UTSW 4 107,738,132 (GRCm39) missense possibly damaging 0.92
Posted On 2014-02-04