Incidental Mutation 'IGL01874:Nol6'
ID178811
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: 0.927) question?
Stock #IGL01874
Quality Score
Status
Chromosome4
Chromosomal Location41114427-41124455 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 41115412 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 1135 (L1135R)
Ref Sequence ENSEMBL: ENSMUSP00000030138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030138]
Predicted Effect probably damaging
Transcript: ENSMUST00000030138
AA Change: L1135R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430
AA Change: L1135R

DomainStartEndE-ValueType
Pfam:Nrap 174 1145 5e-287 PFAM
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A T 13: 70,768,704 V723D possibly damaging Het
Adgrb1 G A 15: 74,541,574 V536I possibly damaging Het
Aox4 T C 1: 58,252,084 L787S probably damaging Het
Atp2c1 A C 9: 105,448,825 V293G probably damaging Het
Ccnb1 T C 13: 100,783,493 D170G probably damaging Het
Cdc42 T C 4: 137,336,070 I4V probably benign Het
Clip1 T C 5: 123,603,666 Q1175R possibly damaging Het
Cox6a1 A G 5: 115,345,845 *113Q probably null Het
Crtc2 C T 3: 90,258,508 P139L probably damaging Het
Cyp8b1 A T 9: 121,915,903 M121K possibly damaging Het
D630003M21Rik C A 2: 158,204,724 G778C probably damaging Het
Dgat1 A G 15: 76,503,041 F349L probably damaging Het
Enox1 A G 14: 77,579,162 Y194C probably damaging Het
Fam120b T A 17: 15,403,039 C426* probably null Het
Fam129b A T 2: 32,905,767 probably null Het
Fxyd3 A G 7: 31,070,893 probably benign Het
Gin1 A G 1: 97,783,072 Y160C probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11110 T A 17: 57,092,693 probably benign Het
Gm1818 T C 12: 48,556,190 noncoding transcript Het
Gucy1a2 T C 9: 3,797,343 S598P probably damaging Het
Hook3 T A 8: 26,039,732 N199Y possibly damaging Het
Il10ra A G 9: 45,267,160 L41P probably damaging Het
Itgam C T 7: 128,115,166 T949I probably damaging Het
Kctd3 A G 1: 188,996,991 V123A probably damaging Het
Krt84 G A 15: 101,527,804 A450V probably damaging Het
Lrrc7 G A 3: 158,240,443 probably benign Het
Nckap1 A G 2: 80,525,636 F608L probably damaging Het
Nmbr A T 10: 14,766,952 Y85F probably benign Het
Ntan1 T C 16: 13,835,213 F278L probably benign Het
Olfr138 T A 17: 38,275,517 S249T probably benign Het
Pcsk5 T A 19: 17,595,677 T474S probably damaging Het
Pex11b T A 3: 96,643,567 probably null Het
Pkhd1 G T 1: 20,103,235 A3786E probably benign Het
Prkdc T C 16: 15,734,994 I2098T possibly damaging Het
Prl2c5 T A 13: 13,190,777 S169R probably benign Het
Ptbp2 A G 3: 119,747,800 V196A probably damaging Het
Rad17 T C 13: 100,617,684 probably benign Het
Skiv2l T C 17: 34,841,209 N114D probably benign Het
Slc47a2 T A 11: 61,312,859 probably null Het
Srcin1 A T 11: 97,533,098 M684K possibly damaging Het
Sspo T A 6: 48,452,190 C298S probably damaging Het
Tenm3 G T 8: 48,236,758 Y1915* probably null Het
Tnks1bp1 A G 2: 85,058,447 T373A probably benign Het
Trp63 A C 16: 25,882,585 N470H possibly damaging Het
Ttn T C 2: 76,798,563 N12703S probably damaging Het
Ubr4 T C 4: 139,393,289 probably benign Het
Vmn2r56 T A 7: 12,715,675 Y212F 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
IGL01062:Nol6 APN 4 41118205 missense probably benign 0.13
IGL01113:Nol6 APN 4 41115749 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
Posted On2014-05-07