Incidental Mutation 'R2495:Nol6'
ID 250939
Institutional Source Beutler Lab
Gene Symbol Nol6
Ensembl Gene ENSMUSG00000028430
Gene Name nucleolar protein family 6 (RNA-associated)
Synonyms Nrap
MMRRC Submission 040409-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R2495 (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 41118427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 791 (D791E)
Ref Sequence ENSEMBL: ENSMUSP00000030138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030138]
AlphaFold Q8R5K4
Predicted Effect probably damaging
Transcript: ENSMUST00000030138
AA Change: D791E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430
AA Change: D791E

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 0.6666 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (63/64)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,536,109 (GRCm39) F125S unknown Het
Abhd17c C T 7: 83,759,884 (GRCm39) W290* probably null Het
Acsl5 A T 19: 55,282,031 (GRCm39) K536* probably null Het
Adamts14 A T 10: 61,034,749 (GRCm39) probably null Het
Agbl3 A G 6: 34,823,699 (GRCm39) H788R probably damaging Het
Agrp T C 8: 106,293,408 (GRCm39) N126D possibly damaging Het
Ambn T C 5: 88,615,663 (GRCm39) I349T probably benign Het
Ank1 T C 8: 23,622,280 (GRCm39) W1610R probably damaging Het
Aox3 T C 1: 58,227,567 (GRCm39) L1224P probably damaging Het
Arhgef28 A T 13: 98,165,881 (GRCm39) probably benign Het
Bcl11b G A 12: 107,881,706 (GRCm39) H798Y possibly damaging Het
Capn11 T A 17: 45,949,689 (GRCm39) M426L probably damaging Het
Cep95 A G 11: 106,700,108 (GRCm39) K290E possibly damaging Het
Cic A G 7: 24,991,201 (GRCm39) probably benign Het
Cnbd1 A T 4: 18,860,579 (GRCm39) M389K probably damaging Het
Cnksr1 A T 4: 133,959,473 (GRCm39) L387Q probably benign Het
Cntrob G T 11: 69,213,749 (GRCm39) P14T probably damaging Het
Crmp1 G A 5: 37,403,441 (GRCm39) probably null Het
Dido1 A G 2: 180,331,181 (GRCm39) V89A probably benign Het
Dnah7a T A 1: 53,645,040 (GRCm39) I999F probably damaging Het
Dsp T A 13: 38,377,453 (GRCm39) L1746Q possibly damaging Het
Dst T C 1: 34,238,454 (GRCm39) S3897P probably damaging Het
Fbxo10 A G 4: 45,040,545 (GRCm39) F887L probably benign Het
Gm21961 T A 15: 64,886,722 (GRCm39) H11L unknown Het
Gm4559 A T 7: 141,827,557 (GRCm39) C182S unknown Het
Golga3 T A 5: 110,355,462 (GRCm39) S939T probably damaging Het
Got2 A G 8: 96,614,918 (GRCm39) S6P possibly damaging Het
Gpatch8 A T 11: 102,369,307 (GRCm39) H1410Q probably damaging Het
Gpx5 T A 13: 21,475,610 (GRCm39) T39S probably benign Het
Grin2b T C 6: 135,710,180 (GRCm39) Y1122C probably damaging Het
Gsn A C 2: 35,193,205 (GRCm39) N538T probably damaging Het
Helz2 A G 2: 180,874,705 (GRCm39) S1930P probably damaging Het
Krt6b A T 15: 101,586,757 (GRCm39) F286Y probably damaging Het
Lrriq1 G A 10: 103,038,242 (GRCm39) R854C probably damaging Het
Mipol1 A T 12: 57,507,776 (GRCm39) probably benign Het
Mmp19 A G 10: 128,626,819 (GRCm39) probably benign Het
Msc T G 1: 14,825,473 (GRCm39) Y167S probably benign Het
Mycbp2 T G 14: 103,437,554 (GRCm39) K2103Q probably damaging Het
Myh11 C A 16: 14,023,421 (GRCm39) D1586Y probably damaging Het
Pcm1 A G 8: 41,746,616 (GRCm39) T1272A probably benign Het
Phgdh A G 3: 98,247,105 (GRCm39) L15P probably damaging Het
Ptprk A T 10: 28,351,074 (GRCm39) probably benign Het
Ralgapa2 G T 2: 146,203,320 (GRCm39) D1091E possibly damaging Het
Rbbp8nl C A 2: 179,920,895 (GRCm39) K496N probably null Het
Rbm26 T C 14: 105,388,748 (GRCm39) probably benign Het
Rfx6 A C 10: 51,602,771 (GRCm39) probably benign Het
Rras G A 7: 44,667,488 (GRCm39) G17R probably damaging Het
Shisa6 G A 11: 66,108,459 (GRCm39) P473S probably damaging Het
Slc9a3 A G 13: 74,306,822 (GRCm39) K316E probably damaging Het
Slco1a7 C A 6: 141,711,503 (GRCm39) M69I probably benign Het
Spata31d1a A G 13: 59,849,807 (GRCm39) S774P possibly damaging Het
Spsb4 T C 9: 96,877,840 (GRCm39) Y161C probably damaging Het
Taf3 G T 2: 9,957,644 (GRCm39) N174K probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Trnt1 T A 6: 106,750,330 (GRCm39) V78E possibly damaging Het
Ubox5 A T 2: 130,441,441 (GRCm39) C415* probably null Het
Ucn2 C T 9: 108,815,477 (GRCm39) P80S possibly damaging Het
Vmn2r10 G A 5: 109,143,961 (GRCm39) T663I probably damaging Het
Wdfy1 A T 1: 79,685,222 (GRCm39) F337L probably null Het
Zfp287 A T 11: 62,605,459 (GRCm39) C483S probably damaging Het
Zyg11b A G 4: 108,101,921 (GRCm39) probably null 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
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'- ATCCTGTGGAGAGATGTGGC -3'
(R):5'- ATGACTGGTAAGAGGGTCCTTG -3'

Sequencing Primer
(F):5'- TGTGGCAAAGGAAATGAATGTC -3'
(R):5'- GCTGCGGAATCAGATCTCTCAC -3'
Posted On 2014-12-04