Incidental Mutation 'R1222:Nol6'
ID 152744
Institutional Source Beutler Lab
Gene Symbol Nol6
Ensembl Gene ENSMUSG00000028430
Gene Name nucleolar protein family 6 (RNA-associated)
Synonyms Nrap
MMRRC Submission 039291-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R1222 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 41114427-41124450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41120760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 396 (N396K)
Ref Sequence ENSEMBL: ENSMUSP00000030138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030138]
AlphaFold Q8R5K4
Predicted Effect probably benign
Transcript: ENSMUST00000030138
AA Change: N396K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430
AA Change: N396K

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 96% (54/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,784,682 (GRCm39) L385* probably null Het
Abca9 T C 11: 110,035,890 (GRCm39) probably benign Het
Abl1 T C 2: 31,691,006 (GRCm39) S842P probably benign Het
Agrn C A 4: 156,261,842 (GRCm39) V483L probably damaging Het
Ankrd13a T A 5: 114,938,824 (GRCm39) C365* probably null Het
Ap2b1 T C 11: 83,237,564 (GRCm39) S543P probably benign Het
Atic C T 1: 71,598,438 (GRCm39) T67I probably damaging Het
Bhmt1b A G 18: 87,775,458 (GRCm39) K327R probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cux1 C T 5: 136,304,003 (GRCm39) R1391Q probably benign Het
Cyp2a4 T C 7: 26,008,013 (GRCm39) V140A possibly damaging Het
Dlgap3 A T 4: 127,088,406 (GRCm39) M1L probably null Het
Dnah3 T C 7: 119,689,899 (GRCm39) D2G probably benign Het
Erbb3 A C 10: 128,407,534 (GRCm39) V938G probably damaging Het
Fam13a C T 6: 58,912,707 (GRCm39) probably benign Het
Gata2 G A 6: 88,177,323 (GRCm39) V118I probably benign Het
Gm2663 T C 6: 40,972,975 (GRCm39) I211V probably benign Het
Izumo3 T A 4: 92,033,284 (GRCm39) N104I probably damaging Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Mctp2 T A 7: 71,908,887 (GRCm39) H142L probably benign Het
Mmp10 T C 9: 7,505,682 (GRCm39) probably benign Het
Mroh8 G A 2: 157,083,774 (GRCm39) probably benign Het
Mylk T C 16: 34,681,022 (GRCm39) V94A probably benign Het
Nr4a2 A T 2: 56,998,336 (GRCm39) N543K probably damaging Het
Nynrin T C 14: 56,100,998 (GRCm39) S263P probably benign Het
Or10ag53 G T 2: 87,082,766 (GRCm39) G162C probably benign Het
Or1e35 A T 11: 73,798,240 (GRCm39) L26H probably damaging Het
Or5p68 T A 7: 107,945,313 (GRCm39) I292F probably damaging Het
Or7d10 G A 9: 19,832,344 (GRCm39) V280I possibly damaging Het
Pkhd1 T A 1: 20,637,680 (GRCm39) R368S probably benign Het
Plekhg4 G A 8: 106,105,742 (GRCm39) A736T probably benign Het
Plxna2 A G 1: 194,482,957 (GRCm39) D1550G probably damaging Het
Qrfpr C A 3: 36,234,244 (GRCm39) G366W probably damaging Het
Qser1 C A 2: 104,607,776 (GRCm39) A1471S probably damaging Het
Rars1 A T 11: 35,700,567 (GRCm39) Y505N probably damaging Het
Reln T A 5: 22,191,953 (GRCm39) T1496S probably null Het
Rrs1 T C 1: 9,616,080 (GRCm39) L111P probably benign Het
Selplg C T 5: 113,957,434 (GRCm39) V291M possibly damaging Het
Serpinb1c T A 13: 33,080,934 (GRCm39) T50S possibly damaging Het
Slc4a5 A G 6: 83,257,114 (GRCm39) K640E probably damaging Het
Szt2 A T 4: 118,262,656 (GRCm39) H40Q possibly damaging Het
Taar4 C T 10: 23,837,230 (GRCm39) T280I probably benign Het
Tdo2 A G 3: 81,868,775 (GRCm39) probably null Het
Tpp1 T C 7: 105,395,948 (GRCm39) N527S probably benign Het
Trim43c A T 9: 88,725,131 (GRCm39) T218S possibly damaging Het
Trim45 G T 3: 100,834,614 (GRCm39) M432I probably benign Het
Ubr4 T C 4: 139,115,782 (GRCm39) probably null Het
Vat1l T C 8: 115,009,101 (GRCm39) probably benign Het
Xpo7 A T 14: 70,904,524 (GRCm39) H1037Q possibly damaging Het
Zmiz1 T C 14: 25,658,520 (GRCm39) probably benign 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
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
R4637:Nol6 UTSW 4 41,121,788 (GRCm39) missense probably damaging 0.99
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'- CTGTAACATCGGCACAGAGGTTGAG -3'
(R):5'- GAAAGATCCATACCACCATGAGCGG -3'

Sequencing Primer
(F):5'- GTTGAGGCGGCCTGATG -3'
(R):5'- TACCAGGTCCTGAGAAGTGTC -3'
Posted On 2014-01-29