Incidental Mutation 'R2021:Ncl'
ID 223916
Institutional Source Beutler Lab
Gene Symbol Ncl
Ensembl Gene ENSMUSG00000026234
Gene Name nucleolin
Synonyms C23, B530004O11Rik
MMRRC Submission 040030-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R2021 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 86272441-86287122 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 86284677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027438] [ENSMUST00000185785]
AlphaFold P09405
Predicted Effect probably null
Transcript: ENSMUST00000027438
SMART Domains Protein: ENSMUSP00000027438
Gene: ENSMUSG00000026234

DomainStartEndE-ValueType
low complexity region 23 47 N/A INTRINSIC
low complexity region 51 66 N/A INTRINSIC
low complexity region 69 92 N/A INTRINSIC
low complexity region 121 142 N/A INTRINSIC
low complexity region 143 168 N/A INTRINSIC
low complexity region 178 188 N/A INTRINSIC
low complexity region 189 215 N/A INTRINSIC
low complexity region 241 273 N/A INTRINSIC
low complexity region 288 299 N/A INTRINSIC
RRM 310 381 2.1e-8 SMART
RRM 396 464 1.97e-13 SMART
RRM 488 557 4.56e-18 SMART
RRM 570 640 1.04e-21 SMART
low complexity region 648 695 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189504
Predicted Effect probably benign
Transcript: ENSMUST00000185785
SMART Domains Protein: ENSMUSP00000140696
Gene: ENSMUSG00000026234

DomainStartEndE-ValueType
low complexity region 7 31 N/A INTRINSIC
low complexity region 35 50 N/A INTRINSIC
low complexity region 53 76 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,035,450 (GRCm39) S316T probably damaging Het
Alox8 C T 11: 69,077,114 (GRCm39) V460I probably damaging Het
Aoc1l2 T C 6: 48,908,385 (GRCm39) S462P probably damaging Het
Arvcf G A 16: 18,218,482 (GRCm39) A491T probably damaging Het
Asnsd1 A G 1: 53,386,386 (GRCm39) S414P possibly damaging Het
Btbd7 A G 12: 102,756,968 (GRCm39) L706P probably damaging Het
Camk2d T A 3: 126,574,105 (GRCm39) W171R probably damaging Het
Casc3 T A 11: 98,712,332 (GRCm39) S124T probably benign Het
Casp8ap2 T C 4: 32,644,560 (GRCm39) V1211A probably benign Het
Ccdc182 T C 11: 88,184,962 (GRCm39) V14A possibly damaging Het
Ccdc80 A T 16: 44,943,275 (GRCm39) Q795L probably damaging Het
Ccdc88a T G 11: 29,453,480 (GRCm39) S1614R probably damaging Het
Cemip2 G A 19: 21,822,114 (GRCm39) A1170T possibly damaging Het
Clcn6 A G 4: 148,095,109 (GRCm39) probably null Het
Cubn A G 2: 13,313,360 (GRCm39) V3070A probably benign Het
Dst G A 1: 34,205,372 (GRCm39) V1025I possibly damaging Het
Dynlt4 A G 4: 116,985,504 (GRCm39) E109G possibly damaging Het
Elk3 T A 10: 93,101,539 (GRCm39) I71F probably damaging Het
Flt3 A T 5: 147,306,300 (GRCm39) I276N probably damaging Het
Frem1 G T 4: 82,831,795 (GRCm39) T1988K probably benign Het
Golph3l T A 3: 95,524,668 (GRCm39) D306E probably benign Het
Grk2 T A 19: 4,340,698 (GRCm39) I254F probably damaging Het
Hgf C T 5: 16,781,919 (GRCm39) T214I probably benign Het
Hoxc5 C A 15: 102,922,814 (GRCm39) probably null Het
Hsd11b1 T C 1: 192,922,686 (GRCm39) T124A probably benign Het
Ipp A G 4: 116,372,565 (GRCm39) Y198C probably benign Het
Ism1 T A 2: 139,582,047 (GRCm39) probably null Het
Klhl42 A G 6: 146,993,394 (GRCm39) Y122C possibly damaging Het
Klk1b21 A T 7: 43,755,418 (GRCm39) K206* probably null Het
Lcn11 A G 2: 25,668,097 (GRCm39) K85R probably benign Het
Macf1 G T 4: 123,366,523 (GRCm39) A2746E probably damaging Het
Matn4 A G 2: 164,242,573 (GRCm39) V175A probably damaging Het
Myh2 A T 11: 67,082,545 (GRCm39) N1372Y probably damaging Het
Nudt2 A G 4: 41,480,255 (GRCm39) D46G probably damaging Het
Obscn C T 11: 58,958,000 (GRCm39) D3567N probably benign Het
Or1j17 G C 2: 36,578,487 (GRCm39) V158L probably benign Het
Or2z9 G T 8: 72,853,930 (GRCm39) V109F possibly damaging Het
Or4a72 A T 2: 89,405,305 (GRCm39) M255K possibly damaging Het
Pamr1 T A 2: 102,464,880 (GRCm39) M343K probably benign Het
Pcdh15 T G 10: 74,467,025 (GRCm39) S1684A possibly damaging Het
Ppm1h T A 10: 122,714,433 (GRCm39) L324* probably null Het
Ppp3r2 T C 4: 49,681,723 (GRCm39) I76V probably benign Het
Prkdc G A 16: 15,494,873 (GRCm39) V748I probably benign Het
Prss47 A G 13: 65,199,591 (GRCm39) V96A probably benign Het
Rsbn1 C T 3: 103,821,789 (GRCm39) T8I probably benign Het
Rsf1 GGCG GGCGACGGCGGCG 7: 97,229,113 (GRCm39) probably benign Het
Serpinb3d A G 1: 107,006,182 (GRCm39) V302A probably benign Het
Sfrp4 A T 13: 19,816,496 (GRCm39) I177F probably benign Het
Sh3bp2 A G 5: 34,701,569 (GRCm39) probably benign Het
Slc7a12 A G 3: 14,562,393 (GRCm39) T257A probably damaging Het
Spata31e5 A T 1: 28,817,234 (GRCm39) V266D probably damaging Het
Specc1l T C 10: 75,103,425 (GRCm39) probably null Het
Stard9 A G 2: 120,534,716 (GRCm39) T3658A probably benign Het
Styxl2 A T 1: 165,928,392 (GRCm39) W407R probably benign Het
Tmem30c T C 16: 57,101,725 (GRCm39) T68A probably damaging Het
Tnr A G 1: 159,679,592 (GRCm39) I189V probably benign Het
Trrap A G 5: 144,790,298 (GRCm39) N3586S possibly damaging Het
Usp14 T C 18: 10,024,632 (GRCm39) T22A probably damaging Het
Vmn1r68 A G 7: 10,261,918 (GRCm39) L60P probably damaging Het
Vmn2r108 G A 17: 20,691,252 (GRCm39) H424Y probably benign Het
Wdr81 C A 11: 75,336,788 (GRCm39) E1534* probably null Het
Zc3h13 A G 14: 75,567,635 (GRCm39) E976G probably damaging Het
Zfp128 T C 7: 12,623,956 (GRCm39) L108P possibly damaging Het
Zfp644 T C 5: 106,783,548 (GRCm39) I1000V possibly damaging Het
Other mutations in Ncl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Ncl APN 1 86,284,091 (GRCm39) critical splice donor site probably null
IGL03328:Ncl APN 1 86,280,319 (GRCm39) missense probably damaging 1.00
PIT4498001:Ncl UTSW 1 86,279,162 (GRCm39) missense possibly damaging 0.61
R0348:Ncl UTSW 1 86,284,362 (GRCm39) missense possibly damaging 0.86
R1073:Ncl UTSW 1 86,278,538 (GRCm39) small insertion probably benign
R2022:Ncl UTSW 1 86,284,677 (GRCm39) critical splice donor site probably null
R4672:Ncl UTSW 1 86,284,324 (GRCm39) missense probably benign 0.04
R4900:Ncl UTSW 1 86,283,901 (GRCm39) missense probably benign 0.01
R6028:Ncl UTSW 1 86,283,855 (GRCm39) missense probably benign 0.00
R7411:Ncl UTSW 1 86,278,564 (GRCm39) missense probably damaging 1.00
R8113:Ncl UTSW 1 86,284,364 (GRCm39) missense possibly damaging 0.84
R9083:Ncl UTSW 1 86,279,183 (GRCm39) missense possibly damaging 0.95
R9210:Ncl UTSW 1 86,280,239 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- TTTGCTACCTACCAATCCAGAC -3'
(R):5'- AGCAAAAGCGTTGGTACCAAC -3'

Sequencing Primer
(F):5'- TACCAATCCAGACAAGATAAATGC -3'
(R):5'- CTCCTGGTAAAAAGGGAGCTGC -3'
Posted On 2014-08-25