Incidental Mutation 'R4637:Nol6'
ID 350753
Institutional Source Beutler Lab
Gene Symbol Nol6
Ensembl Gene ENSMUSG00000028430
Gene Name nucleolar protein family 6 (RNA-associated)
Synonyms Nrap
MMRRC Submission 042010-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R4637 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 41114427-41124450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41121788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 249 (R249W)
Ref Sequence ENSEMBL: ENSMUSP00000030138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030138]
AlphaFold Q8R5K4
Predicted Effect probably damaging
Transcript: ENSMUST00000030138
AA Change: R249W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430
AA Change: R249W

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
Meta Mutation Damage Score 0.5846 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (27/28)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art1 T A 7: 101,755,544 (GRCm39) V12E probably damaging Het
Ccdc121 G A 5: 31,645,435 (GRCm39) R396Q probably benign Het
Ccdc180 A G 4: 45,914,443 (GRCm39) S653G probably benign Het
Clic6 T C 16: 92,293,949 (GRCm39) probably benign Het
Fras1 T A 5: 96,925,947 (GRCm39) L3717Q probably damaging Het
Gpat3 C T 5: 101,005,039 (GRCm39) P58L probably benign Het
Gtf2f1 G T 17: 57,311,534 (GRCm39) P292H probably benign Het
Hcn1 A T 13: 118,112,249 (GRCm39) T738S unknown Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmbs A G 9: 44,250,834 (GRCm39) S130P probably damaging Het
Kif1b A T 4: 149,283,768 (GRCm39) I1299N probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Muc17 A T 5: 137,175,502 (GRCm39) L56Q probably damaging Het
Myd88 G A 9: 119,167,175 (GRCm39) probably null Het
Or4g17 C T 2: 111,209,927 (GRCm39) T194I probably benign Het
Pcdhb1 T C 18: 37,398,802 (GRCm39) V251A possibly damaging Het
Prkcd A G 14: 30,320,722 (GRCm39) S633P probably benign Het
Rarb T C 14: 16,574,875 (GRCm38) H47R possibly damaging Het
Slc16a14 A G 1: 84,885,003 (GRCm39) V512A possibly damaging Het
Slc34a3 C T 2: 25,119,473 (GRCm39) V466M possibly damaging Het
Stat3 A G 11: 100,784,056 (GRCm39) S623P probably damaging Het
Vmn2r16 T G 5: 109,478,280 (GRCm39) S12A probably benign Het
Zfhx4 C G 3: 5,468,464 (GRCm39) P2874R probably damaging Het
Zfp3 T C 11: 70,662,181 (GRCm39) S47P probably benign Het
Zfp791 T C 8: 85,836,514 (GRCm39) E450G possibly damaging Het
Other mutations in Nol6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Nol6 APN 4 41,123,374 (GRCm39) missense possibly damaging 0.89
IGL00787:Nol6 APN 4 41,122,198 (GRCm39) missense probably benign 0.10
IGL01062:Nol6 APN 4 41,118,205 (GRCm39) missense probably benign 0.13
IGL01113:Nol6 APN 4 41,115,749 (GRCm39) missense probably damaging 1.00
IGL01874:Nol6 APN 4 41,115,412 (GRCm39) missense probably damaging 1.00
IGL01995:Nol6 APN 4 41,118,567 (GRCm39) missense probably damaging 1.00
IGL02060:Nol6 APN 4 41,117,700 (GRCm39) missense probably damaging 1.00
IGL03082:Nol6 APN 4 41,115,878 (GRCm39) splice site probably benign
IGL03221:Nol6 APN 4 41,124,166 (GRCm39) missense probably benign 0.00
IGL03332:Nol6 APN 4 41,120,735 (GRCm39) missense probably damaging 1.00
leaky UTSW 4 41,118,154 (GRCm39) missense probably benign 0.02
R0066:Nol6 UTSW 4 41,119,572 (GRCm39) splice site probably benign
R0066:Nol6 UTSW 4 41,119,572 (GRCm39) splice site probably benign
R0308:Nol6 UTSW 4 41,123,584 (GRCm39) missense probably benign 0.01
R0632:Nol6 UTSW 4 41,121,115 (GRCm39) missense probably damaging 0.96
R1222:Nol6 UTSW 4 41,120,760 (GRCm39) missense probably benign 0.01
R1471:Nol6 UTSW 4 41,120,281 (GRCm39) missense probably benign 0.00
R1481:Nol6 UTSW 4 41,123,596 (GRCm39) missense probably benign 0.00
R1971:Nol6 UTSW 4 41,119,542 (GRCm39) missense probably damaging 1.00
R2191:Nol6 UTSW 4 41,118,720 (GRCm39) missense probably benign 0.00
R2495:Nol6 UTSW 4 41,118,427 (GRCm39) missense probably damaging 1.00
R3852:Nol6 UTSW 4 41,117,452 (GRCm39) missense probably damaging 0.99
R3923:Nol6 UTSW 4 41,121,531 (GRCm39) missense probably benign 0.17
R4458:Nol6 UTSW 4 41,115,888 (GRCm39) missense probably damaging 1.00
R4510:Nol6 UTSW 4 41,123,526 (GRCm39) missense probably damaging 1.00
R4511:Nol6 UTSW 4 41,123,526 (GRCm39) missense probably damaging 1.00
R4575:Nol6 UTSW 4 41,120,299 (GRCm39) missense probably benign 0.00
R4700:Nol6 UTSW 4 41,118,944 (GRCm39) missense possibly damaging 0.58
R4820:Nol6 UTSW 4 41,121,508 (GRCm39) missense probably damaging 1.00
R4975:Nol6 UTSW 4 41,120,167 (GRCm39) missense probably benign 0.00
R5395:Nol6 UTSW 4 41,118,392 (GRCm39) intron probably benign
R5826:Nol6 UTSW 4 41,122,158 (GRCm39) missense probably benign 0.04
R6531:Nol6 UTSW 4 41,118,154 (GRCm39) missense probably benign 0.02
R6943:Nol6 UTSW 4 41,118,962 (GRCm39) missense probably damaging 1.00
R7001:Nol6 UTSW 4 41,121,279 (GRCm39) missense probably benign 0.00
R7035:Nol6 UTSW 4 41,118,479 (GRCm39) missense probably benign 0.01
R7282:Nol6 UTSW 4 41,119,468 (GRCm39) missense probably benign 0.18
R7327:Nol6 UTSW 4 41,116,686 (GRCm39) missense probably benign 0.34
R7402:Nol6 UTSW 4 41,118,699 (GRCm39) missense probably damaging 1.00
R7483:Nol6 UTSW 4 41,117,424 (GRCm39) missense possibly damaging 0.92
R7505:Nol6 UTSW 4 41,120,352 (GRCm39) missense probably damaging 1.00
R7669:Nol6 UTSW 4 41,118,717 (GRCm39) missense probably damaging 0.97
R8255:Nol6 UTSW 4 41,120,168 (GRCm39) missense probably benign 0.01
R8401:Nol6 UTSW 4 41,119,548 (GRCm39) missense possibly damaging 0.87
R8426:Nol6 UTSW 4 41,119,870 (GRCm39) missense probably benign 0.36
R8826:Nol6 UTSW 4 41,121,823 (GRCm39) missense probably benign 0.26
R9228:Nol6 UTSW 4 41,116,422 (GRCm39) missense probably benign 0.42
R9259:Nol6 UTSW 4 41,118,229 (GRCm39) missense possibly damaging 0.84
R9571:Nol6 UTSW 4 41,120,156 (GRCm39) missense probably benign 0.00
R9604:Nol6 UTSW 4 41,120,298 (GRCm39) missense probably benign 0.05
R9748:Nol6 UTSW 4 41,123,538 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCCTGGGTAGAGACATGGAG -3'
(R):5'- GTCCCCAGTTCCATGAACAC -3'

Sequencing Primer
(F):5'- GGAGTAGTGAGATTCTACAACTCC -3'
(R):5'- CCAGTTCCATGAACACTTATGTG -3'
Posted On 2015-10-08