Incidental Mutation 'PIT4498001:Ncl'
ID 556042
Institutional Source Beutler Lab
Gene Symbol Ncl
Ensembl Gene ENSMUSG00000026234
Gene Name nucleolin
Synonyms C23, B530004O11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # PIT4498001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 86272441-86287122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86279162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 584 (T584A)
Ref Sequence ENSEMBL: ENSMUSP00000027438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027438]
AlphaFold P09405
Predicted Effect possibly damaging
Transcript: ENSMUST00000027438
AA Change: T584A

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027438
Gene: ENSMUSG00000026234
AA Change: T584A

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
Coding Region Coverage
  • 1x: 93.2%
  • 3x: 91.0%
  • 10x: 86.1%
  • 20x: 75.4%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 T C 19: 40,562,800 (GRCm39) N191S probably benign Het
Cacnb2 T A 2: 14,879,630 (GRCm39) L84* probably null Het
Cdhr2 C T 13: 54,866,052 (GRCm39) T284M possibly damaging Het
Defb45 T C 2: 152,438,394 (GRCm39) probably benign Het
Dkk3 C T 7: 111,718,679 (GRCm39) V236M probably benign Het
Dscc1 A T 15: 54,945,711 (GRCm39) V328D probably benign Het
Epha3 T C 16: 63,372,889 (GRCm39) Y938C probably damaging Het
Erc1 A T 6: 119,756,452 (GRCm39) F435I possibly damaging Het
Fbxl5 T C 5: 43,908,323 (GRCm39) Y626C possibly damaging Het
Fmn2 A G 1: 174,440,170 (GRCm39) R1196G probably damaging Het
Gabrr1 C T 4: 33,160,225 (GRCm39) S303F probably damaging Het
Ggt1 T C 10: 75,414,689 (GRCm39) V169A possibly damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gm3182 T A 14: 4,481,832 (GRCm38) C9S probably damaging Het
Gpr88 A C 3: 116,046,264 (GRCm39) S16A unknown Het
Kalrn A T 16: 33,851,952 (GRCm39) M2076K possibly damaging Het
Katnip A G 7: 125,412,768 (GRCm39) T371A probably benign Het
Kcnd3 T C 3: 105,566,025 (GRCm39) I402T probably damaging Het
Mink1 A G 11: 70,489,714 (GRCm39) D57G probably benign Het
Nfx1 A T 4: 40,977,244 (GRCm39) Q306L probably benign Het
Ogdh A T 11: 6,290,504 (GRCm39) D374V probably benign Het
Or5d39 T A 2: 87,980,259 (GRCm39) T35S probably benign Het
Pak5 T A 2: 135,925,211 (GRCm39) H697L probably damaging Het
Pappa T C 4: 65,234,469 (GRCm39) C1425R probably damaging Het
Pramel26 T C 4: 143,539,406 (GRCm39) E29G possibly damaging Het
Rab3gap2 T A 1: 185,013,882 (GRCm39) I1196N probably damaging Het
Ralyl A T 3: 14,172,299 (GRCm39) D56V probably damaging Het
Scin C T 12: 40,119,446 (GRCm39) probably null Het
Slc25a19 T C 11: 115,514,781 (GRCm39) I69V possibly damaging Het
Slc8a1 G T 17: 81,956,269 (GRCm39) Y256* probably null Het
Smyd1 T C 6: 71,196,272 (GRCm39) H372R probably benign Het
St8sia1 T C 6: 142,859,848 (GRCm39) T94A probably damaging Het
Stard9 T A 2: 120,527,916 (GRCm39) M1391K possibly damaging Het
Tlr9 G A 9: 106,100,721 (GRCm39) R4H probably benign Het
Trim50 A G 5: 135,382,331 (GRCm39) D61G probably damaging Het
Ttn G A 2: 76,597,295 (GRCm39) P19873S probably damaging Het
Vmn1r228 G T 17: 20,996,772 (GRCm39) H249N probably benign Het
Vmn2r108 C T 17: 20,683,279 (GRCm39) G642S probably damaging Het
Wdr27 A G 17: 15,154,831 (GRCm39) S29P probably benign Het
Zan A G 5: 137,415,298 (GRCm39) probably null 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
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
R2021:Ncl UTSW 1 86,284,677 (GRCm39) critical splice donor site probably null
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'- GTGCCAGTTCTGTGAATTCTC -3'
(R):5'- GCTCTGACATAGATTGCAGACAAAAC -3'

Sequencing Primer
(F):5'- CGTGCGAATCCATAATCTATCACTG -3'
(R):5'- TAGATTGCAGACAAAACACTAATGC -3'
Posted On 2019-06-07