Incidental Mutation 'R4510:Nol6'
ID 331199
Institutional Source Beutler Lab
Gene Symbol Nol6
Ensembl Gene ENSMUSG00000028430
Gene Name nucleolar protein family 6 (RNA-associated)
Synonyms Nrap
MMRRC Submission 041585-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R4510 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 41114427-41124450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 41123526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 74 (T74R)
Ref Sequence ENSEMBL: ENSMUSP00000030138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030138]
AlphaFold Q8R5K4
Predicted Effect probably damaging
Transcript: ENSMUST00000030138
AA Change: T74R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430
AA Change: T74R

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 96% (50/52)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,100,819 (GRCm39) D397E probably benign Het
Abcc10 A G 17: 46,618,136 (GRCm39) F1005L probably damaging Het
Ackr4 T C 9: 103,975,930 (GRCm39) E339G probably benign Het
Adam39 G T 8: 41,279,328 (GRCm39) C573F probably damaging Het
Anks1b A G 10: 90,346,652 (GRCm39) T651A probably benign Het
Aoc1 C A 6: 48,884,740 (GRCm39) H594Q probably damaging Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
Atp4a G T 7: 30,423,678 (GRCm39) E928* probably null Het
Atp5pf T C 16: 84,624,862 (GRCm39) D104G probably benign Het
Atp8b5 A G 4: 43,320,629 (GRCm39) T206A probably damaging Het
Atrn G A 2: 130,777,497 (GRCm39) W182* probably null Het
Bltp2 T C 11: 78,168,154 (GRCm39) S1530P possibly damaging Het
Cacna1e G A 1: 154,437,579 (GRCm39) T257I probably damaging Het
Caskin1 G A 17: 24,725,602 (GRCm39) S1296N probably benign Het
Crebrf A G 17: 26,961,938 (GRCm39) Y345C probably benign Het
Cyp26b1 G A 6: 84,551,473 (GRCm39) R248W probably damaging Het
Dclk3 C A 9: 111,297,060 (GRCm39) H201Q probably benign Het
Ddx17 A T 15: 79,422,793 (GRCm39) V315E probably damaging Het
Dhrs11 T C 11: 84,716,342 (GRCm39) *51W probably null Het
Fgfr4 C A 13: 55,309,328 (GRCm39) P455Q possibly damaging Het
Gabbr1 A G 17: 37,380,103 (GRCm39) K697E probably damaging Het
Gcnt1 G A 19: 17,307,641 (GRCm39) T28I probably benign Het
Gga2 G A 7: 121,620,301 (GRCm39) T4M unknown Het
Gm12185 T A 11: 48,799,305 (GRCm39) H396L possibly damaging Het
Gm21976 A G 13: 98,441,839 (GRCm39) R123G probably benign Het
Hecw1 A C 13: 14,531,776 (GRCm39) V166G probably damaging Het
Hpx A G 7: 105,241,295 (GRCm39) V372A possibly damaging Het
Igkv2-109 A G 6: 68,279,962 (GRCm39) Y61C probably damaging Het
Igsf1 A G X: 48,875,050 (GRCm39) F789S probably damaging Het
Il4ra A G 7: 125,175,280 (GRCm39) D496G possibly damaging Het
Ilf3 A G 9: 21,310,511 (GRCm39) T547A possibly damaging Het
Insrr C A 3: 87,715,978 (GRCm39) P558T possibly damaging Het
Ints9 A G 14: 65,266,381 (GRCm39) D411G possibly damaging Het
Irak3 T A 10: 119,981,813 (GRCm39) H393L probably damaging Het
Isx G A 8: 75,600,298 (GRCm39) M10I probably benign Het
Itga11 A G 9: 62,668,870 (GRCm39) D709G probably damaging Het
Kcng2 G T 18: 80,338,930 (GRCm39) R453S probably benign Het
Kif5b A G 18: 6,214,011 (GRCm39) V664A probably benign Het
Lalba A G 15: 98,380,422 (GRCm39) L44P probably benign Het
Ldlrad1 T G 4: 107,066,715 (GRCm39) F17V probably benign Het
Lnx1 C T 5: 74,780,853 (GRCm39) D382N probably damaging Het
Lrp1 T C 10: 127,429,717 (GRCm39) Y451C probably damaging Het
Lrp2 A T 2: 69,310,406 (GRCm39) N2722K possibly damaging Het
Mctp1 G A 13: 76,973,391 (GRCm39) V431I probably benign Het
Mmrn2 T C 14: 34,125,016 (GRCm39) F866L possibly damaging Het
Mylk2 A G 2: 152,759,330 (GRCm39) E367G probably damaging Het
Nfatc1 A G 18: 80,678,794 (GRCm39) S865P probably damaging Het
Notch2 T C 3: 98,053,637 (GRCm39) M2100T probably benign Het
Parp1 A G 1: 180,418,841 (GRCm39) K667R possibly damaging Het
Phlda3 A G 1: 135,694,400 (GRCm39) T72A probably damaging Het
Polg T C 7: 79,105,270 (GRCm39) Q758R probably benign Het
Polq G A 16: 36,868,925 (GRCm39) R765H probably damaging Het
Pramel19 A T 4: 101,798,757 (GRCm39) M243L probably benign Het
Prkd1 T C 12: 50,439,762 (GRCm39) D355G possibly damaging Het
Prpf8 T C 11: 75,382,652 (GRCm39) Y398H probably damaging Het
Ripk1 T C 13: 34,210,731 (GRCm39) Y309H probably damaging Het
Rngtt A T 4: 33,339,032 (GRCm39) Q279L possibly damaging Het
Rusf1 A T 7: 127,875,312 (GRCm39) F319Y probably damaging Het
Samd4 T A 14: 47,315,042 (GRCm39) V114D probably benign Het
Sec23ip G A 7: 128,380,900 (GRCm39) E956K probably damaging Het
Slc4a1ap A T 5: 31,684,747 (GRCm39) T128S probably benign Het
Slc5a11 A T 7: 122,834,858 (GRCm39) I6F probably benign Het
Slc6a19 A C 13: 73,832,094 (GRCm39) L494R probably damaging Het
Slc6a21 A G 7: 44,936,713 (GRCm39) D189G probably damaging Het
Slc7a1 G T 5: 148,277,372 (GRCm39) A381D probably damaging Het
Smc4 T A 3: 68,923,980 (GRCm39) probably null Het
Stk19 T C 17: 35,051,504 (GRCm39) E17G probably damaging Het
Tekt5 A C 16: 10,175,877 (GRCm39) V556G probably benign Het
Tenm4 T C 7: 96,544,070 (GRCm39) F2029L probably benign Het
Thnsl1 T C 2: 21,217,236 (GRCm39) V330A probably damaging Het
Tnfrsf21 A G 17: 43,375,910 (GRCm39) D432G probably damaging Het
Tnip1 T A 11: 54,817,616 (GRCm39) S244C probably benign Het
Tnrc6c A T 11: 117,633,784 (GRCm39) N1294I possibly damaging Het
Trpm3 A G 19: 22,965,381 (GRCm39) I1625M probably benign Het
Ttn A T 2: 76,575,773 (GRCm39) V25040E probably damaging Het
Vwa5a A G 9: 38,633,853 (GRCm39) N19D possibly damaging Het
Washc2 A T 6: 116,197,517 (GRCm39) D250V probably damaging Het
Xpo1 A G 11: 23,237,401 (GRCm39) T755A possibly damaging Het
Zfp462 C T 4: 55,008,934 (GRCm39) T300I possibly damaging Het
Zfp937 A C 2: 150,080,431 (GRCm39) T154P probably damaging Het
Zzef1 A G 11: 72,778,996 (GRCm39) D1819G 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
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
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'- TGACAGTCTGACTTCCTTTAGTAAC -3'
(R):5'- CCCACAAACTTGAGTCAGCTG -3'

Sequencing Primer
(F):5'- AGTAACTCCTCCACCTTTAGCAG -3'
(R):5'- TTGAGTCAGCTGATACAGATACCC -3'
Posted On 2015-07-21