Incidental Mutation 'IGL00953:Gemin6'
ID29311
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: 0.767) question?
Stock #IGL00953
Quality Score
Status
Chromosome17
Chromosomal Location80224441-80228497 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80227865 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 85 (F85L)
Ref Sequence ENSEMBL: ENSMUSP00000063554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069486]
Predicted Effect possibly damaging
Transcript: ENSMUST00000069486
AA Change: F85L

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063554
Gene: ENSMUSG00000055760
AA Change: F85L

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 120,011,221 E726G probably benign Het
Cdyl2 T A 8: 116,595,189 probably benign Het
Cep41 T C 6: 30,660,967 T109A probably benign Het
Clca3b C T 3: 144,847,211 W84* probably null Het
Cyp27b1 A G 10: 127,049,682 D130G probably benign Het
Cyp2f2 T C 7: 27,129,817 V249A possibly damaging Het
Cyth3 G A 5: 143,707,165 probably null Het
Dnah8 G T 17: 30,706,457 E1289* probably null Het
Fam171a1 A T 2: 3,178,290 D51V possibly damaging Het
Farp2 A G 1: 93,561,174 R107G possibly damaging Het
Hivep3 A C 4: 120,098,374 T1296P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Htt T A 5: 34,818,677 S670T probably benign Het
Klhl24 A T 16: 20,122,967 N555I possibly damaging Het
Limd1 T A 9: 123,479,883 S216T probably benign Het
Lmf2 A T 15: 89,353,899 I234N probably damaging Het
Mrpl4 C A 9: 21,008,567 D271E probably benign Het
Mydgf C T 17: 56,179,407 G75R probably damaging Het
Nat1 A G 8: 67,490,978 D5G possibly damaging Het
Olfr178 A C 16: 58,889,685 H178Q probably damaging Het
Olfr190 A T 16: 59,074,689 Y130* probably null Het
Olfr325 T C 11: 58,581,810 V322A probably benign Het
Pla2g4c T A 7: 13,344,026 M363K probably benign Het
Prex1 A G 2: 166,638,409 F137S probably damaging Het
Rbm12b1 A G 4: 12,146,038 D670G probably damaging Het
Rrp12 C A 19: 41,871,792 M997I possibly damaging Het
Scn3a A G 2: 65,497,392 V918A probably benign Het
Slc35g2 A G 9: 100,552,463 V385A probably damaging Het
Slit1 A T 19: 41,602,300 I1311N probably damaging Het
Ube2j2 C T 4: 155,946,377 probably benign Het
Ucp2 A G 7: 100,498,422 T203A probably benign Het
Upk1b C T 16: 38,779,985 G211D possibly damaging Het
Vmn1r220 A T 13: 23,183,765 F254I probably benign Het
Zcchc4 T C 5: 52,808,296 F314S probably damaging Het
Other mutations in Gemin6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02129:Gemin6 APN 17 80227926 missense probably damaging 1.00
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
Posted On2013-04-17