Incidental Mutation 'IGL02129:Gemin6'
ID280983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gemin6
Ensembl Gene ENSMUSG00000055760
Gene Namegem nuclear organelle associated protein 6
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.802) question?
Stock #IGL02129
Quality Score
Status
Chromosome17
Chromosomal Location80224441-80228497 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80227926 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 105 (L105P)
Ref Sequence ENSEMBL: ENSMUSP00000063554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069486]
Predicted Effect probably damaging
Transcript: ENSMUST00000069486
AA Change: L105P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063554
Gene: ENSMUSG00000055760
AA Change: L105P

DomainStartEndE-ValueType
Pfam:Gemin6 1 166 9.7e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156869
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1a3 T A 7: 24,997,286 H293L probably damaging Het
AU040320 A G 4: 126,823,692 Y354C probably damaging Het
Bag4 T C 8: 25,768,085 T405A probably damaging Het
Best1 T A 19: 9,992,921 Q109L probably benign Het
Bod1l G A 5: 41,821,850 T707I probably benign Het
Bora G A 14: 99,056,821 probably null Het
Btnl9 A C 11: 49,169,273 D464E probably damaging Het
Cebpe T A 14: 54,711,613 R116W probably damaging Het
Col6a6 T C 9: 105,736,340 probably benign Het
Copb2 T C 9: 98,585,923 probably benign Het
Ep300 A G 15: 81,586,636 E3G unknown Het
Fam117b A G 1: 59,981,423 H484R probably benign Het
Fgb T A 3: 83,043,418 K343M probably benign Het
Fkbpl C T 17: 34,645,978 T240M probably damaging Het
Heatr3 T C 8: 88,158,271 probably benign Het
Itch C T 2: 155,217,988 probably benign Het
Kank3 C T 17: 33,817,491 P111L probably benign Het
Mthfsl T A 9: 88,715,536 I111F probably damaging Het
Mtor A T 4: 148,549,845 M2382L possibly damaging Het
Myh2 A G 11: 67,185,258 D757G probably benign Het
Naa35 A G 13: 59,609,525 D238G probably damaging Het
Nckap5 A T 1: 126,027,695 Y373* probably null Het
Olfr1436 T A 19: 12,298,458 I225F probably damaging Het
Pigm G A 1: 172,377,867 W390* probably null Het
Plxnb2 A G 15: 89,160,410 V1211A probably benign Het
Sh3yl1 T A 12: 30,942,877 probably benign Het
Spg11 T A 2: 122,095,686 Q709H probably damaging Het
Spr-ps1 A G 6: 85,155,822 noncoding transcript Het
Tc2n T C 12: 101,689,789 N208D probably damaging Het
Tdo2 C T 3: 81,958,925 V344M probably damaging Het
Ttll1 G A 15: 83,484,249 P403S probably benign Het
Usp20 T C 2: 31,004,450 V126A probably benign Het
Zfp109 T C 7: 24,236,629 T2A possibly damaging Het
Other mutations in Gemin6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Gemin6 APN 17 80227865 missense possibly damaging 0.56
R0197:Gemin6 UTSW 17 80228095 missense probably damaging 1.00
R0239:Gemin6 UTSW 17 80225710 missense probably damaging 1.00
R0239:Gemin6 UTSW 17 80225710 missense probably damaging 1.00
R0883:Gemin6 UTSW 17 80228095 missense probably damaging 1.00
R1995:Gemin6 UTSW 17 80227985 missense probably damaging 1.00
R4570:Gemin6 UTSW 17 80228069 nonsense probably null
R4885:Gemin6 UTSW 17 80227898 missense probably damaging 0.99
R5335:Gemin6 UTSW 17 80225755 missense probably damaging 1.00
R5445:Gemin6 UTSW 17 80227749 missense probably damaging 0.98
R5447:Gemin6 UTSW 17 80227749 missense probably damaging 0.98
R5451:Gemin6 UTSW 17 80227749 missense probably damaging 0.98
R5452:Gemin6 UTSW 17 80227749 missense probably damaging 0.98
R5522:Gemin6 UTSW 17 80227749 missense probably damaging 0.98
R5525:Gemin6 UTSW 17 80227749 missense probably damaging 0.98
R5526:Gemin6 UTSW 17 80227749 missense probably damaging 0.98
R7291:Gemin6 UTSW 17 80227775 missense possibly damaging 0.61
R7576:Gemin6 UTSW 17 80225726 nonsense probably null
R7845:Gemin6 UTSW 17 80225661 missense probably benign 0.00
R7928:Gemin6 UTSW 17 80225661 missense probably benign 0.00
Posted On2015-04-16