Incidental Mutation 'IGL01777:Magoh'
ID154129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Magoh
Ensembl Gene ENSMUSG00000028609
Gene Namemago homolog, exon junction complex core component
SynonymsMos2, Mago-m
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01777
Quality Score
Status
Chromosome4
Chromosomal Location107879755-107887424 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 107883176 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 86 (Q86K)
Ref Sequence ENSEMBL: ENSMUSP00000030348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030348]
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: 60,024,784 V240A possibly damaging Het
Aftph A T 11: 20,726,554 C352S possibly damaging Het
Cand2 T C 6: 115,792,857 V876A probably damaging Het
Ccar1 T C 10: 62,780,577 I125V possibly damaging Het
Celsr3 A T 9: 108,835,942 M1858L probably benign Het
Csmd3 A T 15: 47,698,198 N2134K probably benign Het
Dhx29 A G 13: 112,930,872 I96V probably benign Het
Dst A G 1: 34,199,397 T3727A probably benign Het
Elavl4 T A 4: 110,206,661 probably null Het
Eno2 C T 6: 124,766,637 G113D probably damaging Het
Esf1 A C 2: 140,157,172 probably null Het
Frmd4b T C 6: 97,295,944 D783G probably benign Het
Gm13023 T G 4: 143,795,118 C435G possibly damaging Het
Grin2a C T 16: 9,644,130 V713I probably benign Het
Impa1 C T 3: 10,322,948 G138D probably damaging Het
Kcnt2 A G 1: 140,595,998 T1079A probably benign Het
Kmt2a A G 9: 44,849,005 S549P probably damaging Het
Moxd1 C A 10: 24,252,596 T182K probably benign Het
Olfr476 A G 7: 107,967,502 Y35C probably damaging Het
Rab3b A T 4: 108,929,410 Q119L probably damaging Het
Snap47 T A 11: 59,421,651 probably null Het
Taar3 A G 10: 23,950,005 R150G probably benign Het
Tas2r102 C T 6: 132,762,852 T241I probably damaging Het
Tas2r114 C T 6: 131,689,701 W121* probably null Het
Trak1 G A 9: 121,431,560 probably null Het
Ubn1 T C 16: 5,072,149 V426A possibly damaging Het
Vmn1r40 T C 6: 89,714,222 L7P probably benign Het
Vmn2r43 T C 7: 8,255,273 I314V probably damaging Het
Vrtn T G 12: 84,648,922 S149A probably benign Het
Other mutations in Magoh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Magoh APN 4 107885006 unclassified probably benign
R0508:Magoh UTSW 4 107884998 missense possibly damaging 0.79
R1164:Magoh UTSW 4 107887262 missense probably benign 0.37
R1694:Magoh UTSW 4 107883165 missense probably benign 0.09
R3116:Magoh UTSW 4 107887212 missense possibly damaging 0.94
Posted On2014-02-04