Incidental Mutation 'IGL01062:Nol6'
ID50828
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nol6
Ensembl Gene ENSMUSG00000028430
Gene Namenucleolar protein family 6 (RNA-associated)
SynonymsNrap
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #IGL01062
Quality Score
Status
Chromosome4
Chromosomal Location41114427-41124455 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 41118205 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 811 (I811V)
Ref Sequence ENSEMBL: ENSMUSP00000030138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030138]
Predicted Effect probably benign
Transcript: ENSMUST00000030138
AA Change: I811V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430
AA Change: I811V

DomainStartEndE-ValueType
Pfam:Nrap 174 1145 5e-287 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155315
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T A 4: 41,511,433 E93D probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Amer3 A G 1: 34,586,739 K20E probably damaging Het
Arhgap31 A G 16: 38,601,456 L1416P probably damaging Het
Avpr1a G A 10: 122,449,529 C242Y probably damaging Het
Bclaf3 T C X: 159,553,419 Y281H probably benign Het
Cdc14a T A 3: 116,274,712 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cntn4 T C 6: 106,618,278 probably benign Het
Cyp3a44 T A 5: 145,794,339 D217V possibly damaging Het
Eprs A G 1: 185,379,615 E274G probably benign Het
Ercc6l2 G T 13: 63,847,454 Q354H probably null Het
Glb1l A T 1: 75,201,238 I392N probably damaging Het
Gm3173 T C 14: 4,514,887 probably null Het
Grasp A G 15: 101,228,896 probably benign Het
Hadh C T 3: 131,240,991 V219M probably damaging Het
Hspb9 A G 11: 100,713,935 H29R possibly damaging Het
Iqgap3 G T 3: 88,110,122 V240L probably benign Het
Jmjd1c T C 10: 67,226,715 S1616P probably damaging Het
Knl1 A G 2: 119,076,980 I1662V probably benign Het
Mapre3 A G 5: 30,864,896 I236V probably benign Het
Med17 T C 9: 15,279,621 E58G probably benign Het
Myh6 T C 14: 54,952,292 E1099G probably damaging Het
Myt1 T A 2: 181,797,729 V348D probably damaging Het
Nat10 A T 2: 103,743,048 I368N probably damaging Het
Oas1d C A 5: 120,919,064 Y244* probably null Het
Olfr49 A T 14: 54,282,724 M57K probably damaging Het
Osbpl1a A G 18: 12,905,075 V273A probably benign Het
Pigw T C 11: 84,877,943 R187G probably benign Het
Plekhg5 G A 4: 152,108,496 D603N probably damaging Het
Ptprk T C 10: 28,580,418 V1058A probably damaging Het
Robo4 G A 9: 37,406,000 S537N probably benign Het
Rptn T A 3: 93,397,182 F607L probably benign Het
Sall1 A G 8: 89,033,344 V44A probably damaging Het
Sh3bp4 C A 1: 89,143,960 Q177K probably benign Het
Srrt C A 5: 137,296,307 G779V probably damaging Het
Tex21 T C 12: 76,198,944 D526G probably benign Het
Tmem57 A T 4: 134,833,297 V125E probably damaging Het
Ttc37 T A 13: 76,155,462 L1225* probably null Het
Vmn1r10 A G 6: 57,113,836 S138G possibly damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfp454 T C 11: 50,874,206 E22G probably benign Het
Zzef1 T A 11: 72,874,969 C1441S probably benign Het
Other mutations in Nol6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Nol6 APN 4 41123374 missense possibly damaging 0.89
IGL00787:Nol6 APN 4 41122198 missense probably benign 0.10
IGL01113:Nol6 APN 4 41115749 missense probably damaging 1.00
IGL01874:Nol6 APN 4 41115412 missense probably damaging 1.00
IGL01995:Nol6 APN 4 41118567 missense probably damaging 1.00
IGL02060:Nol6 APN 4 41117700 missense probably damaging 1.00
IGL03082:Nol6 APN 4 41115878 splice site probably benign
IGL03221:Nol6 APN 4 41124166 missense probably benign 0.00
IGL03332:Nol6 APN 4 41120735 missense probably damaging 1.00
leaky UTSW 4 41118154 missense probably benign 0.02
R0066:Nol6 UTSW 4 41119572 splice site probably benign
R0066:Nol6 UTSW 4 41119572 splice site probably benign
R0308:Nol6 UTSW 4 41123584 missense probably benign 0.01
R0632:Nol6 UTSW 4 41121115 missense probably damaging 0.96
R1222:Nol6 UTSW 4 41120760 missense probably benign 0.01
R1471:Nol6 UTSW 4 41120281 missense probably benign 0.00
R1481:Nol6 UTSW 4 41123596 missense probably benign 0.00
R1971:Nol6 UTSW 4 41119542 missense probably damaging 1.00
R2191:Nol6 UTSW 4 41118720 missense probably benign 0.00
R2495:Nol6 UTSW 4 41118427 missense probably damaging 1.00
R3852:Nol6 UTSW 4 41117452 missense probably damaging 0.99
R3923:Nol6 UTSW 4 41121531 missense probably benign 0.17
R4458:Nol6 UTSW 4 41115888 missense probably damaging 1.00
R4510:Nol6 UTSW 4 41123526 missense probably damaging 1.00
R4511:Nol6 UTSW 4 41123526 missense probably damaging 1.00
R4575:Nol6 UTSW 4 41120299 missense probably benign 0.00
R4637:Nol6 UTSW 4 41121788 missense probably damaging 0.99
R4700:Nol6 UTSW 4 41118944 missense possibly damaging 0.58
R4820:Nol6 UTSW 4 41121508 missense probably damaging 1.00
R4975:Nol6 UTSW 4 41120167 missense probably benign 0.00
R5395:Nol6 UTSW 4 41118392 intron probably benign
R5826:Nol6 UTSW 4 41122158 missense probably benign 0.04
R6531:Nol6 UTSW 4 41118154 missense probably benign 0.02
R6943:Nol6 UTSW 4 41118962 missense probably damaging 1.00
R7001:Nol6 UTSW 4 41121279 missense probably benign 0.00
R7035:Nol6 UTSW 4 41118479 missense probably benign 0.01
R7282:Nol6 UTSW 4 41119468 missense probably benign 0.18
R7327:Nol6 UTSW 4 41116686 missense probably benign 0.34
R7402:Nol6 UTSW 4 41118699 missense probably damaging 1.00
R7483:Nol6 UTSW 4 41117424 missense possibly damaging 0.92
R7505:Nol6 UTSW 4 41120352 missense probably damaging 1.00
R7669:Nol6 UTSW 4 41118717 missense probably damaging 0.97
R8255:Nol6 UTSW 4 41120168 missense probably benign 0.01
R8401:Nol6 UTSW 4 41119548 missense possibly damaging 0.87
R8426:Nol6 UTSW 4 41119870 missense probably benign 0.36
Posted On2013-06-21