Incidental Mutation 'IGL03328:Ncl'
ID 416724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncl
Ensembl Gene ENSMUSG00000026234
Gene Name nucleolin
Synonyms C23, B530004O11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL03328
Quality Score
Status
Chromosome 1
Chromosomal Location 86272441-86287122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86280319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 496 (Y496C)
Ref Sequence ENSEMBL: ENSMUSP00000027438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027438] [ENSMUST00000185785]
AlphaFold P09405
Predicted Effect probably damaging
Transcript: ENSMUST00000027438
AA Change: Y496C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027438
Gene: ENSMUSG00000026234
AA Change: Y496C

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: ENSMUST00000082903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185676
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188682
Coding Region Coverage
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,211,355 (GRCm39) M1556L probably benign Het
Aicda T G 6: 122,539,396 (GRCm39) D187E probably benign Het
Arfgap3 A C 15: 83,227,282 (GRCm39) F43L probably damaging Het
AW551984 T C 9: 39,508,412 (GRCm39) E368G probably damaging Het
Bbs4 T C 9: 59,251,401 (GRCm39) E33G probably damaging Het
Bcas1 T A 2: 170,208,316 (GRCm39) K437* probably null Het
Brwd1 A T 16: 95,803,925 (GRCm39) W2082R probably damaging Het
Card6 A T 15: 5,134,927 (GRCm39) probably benign Het
Cd200r4 A G 16: 44,653,882 (GRCm39) I226M possibly damaging Het
Cep57l1 T C 10: 41,619,148 (GRCm39) E73G probably damaging Het
Chaf1a T G 17: 56,370,374 (GRCm39) F613C probably damaging Het
Clybl G T 14: 122,639,406 (GRCm39) K323N probably damaging Het
Coa7 A G 4: 108,195,479 (GRCm39) D136G probably damaging Het
Col5a2 C A 1: 45,415,306 (GRCm39) V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,993 (GRCm39) probably benign Het
Cyp4f17 T G 17: 32,739,600 (GRCm39) M174R probably damaging Het
Dnah10 A T 5: 124,831,354 (GRCm39) D794V probably benign Het
Eapp A G 12: 54,738,878 (GRCm39) S87P probably benign Het
Efnb3 A G 11: 69,448,031 (GRCm39) I137T probably damaging Het
Eif4e T A 3: 138,259,488 (GRCm39) probably benign Het
Fam83b T A 9: 76,400,324 (GRCm39) I260L probably benign Het
Fras1 A G 5: 96,929,619 (GRCm39) T4008A probably damaging Het
Fut8 A T 12: 77,412,003 (GRCm39) R118W probably damaging Het
Glt1d1 A C 5: 127,734,183 (GRCm39) D119A probably benign Het
Gm3727 T A 14: 7,261,685 (GRCm38) *206C probably null Het
Gmip G A 8: 70,264,261 (GRCm39) V174M possibly damaging Het
Gtf2ird1 A G 5: 134,417,983 (GRCm39) probably null Het
Haao C T 17: 84,154,078 (GRCm39) C23Y probably damaging Het
Hip1 A T 5: 135,453,728 (GRCm39) V400E probably damaging Het
Keg1 A G 19: 12,696,461 (GRCm39) N215S probably damaging Het
Lss T G 10: 76,376,785 (GRCm39) I334S probably damaging Het
Lyn A C 4: 3,745,327 (GRCm39) E77D probably benign Het
Myo3a A G 2: 22,468,210 (GRCm39) E1426G probably benign Het
Ncapg2 A G 12: 116,403,677 (GRCm39) E863G possibly damaging Het
Nefm A T 14: 68,358,739 (GRCm39) S432T probably benign Het
Nipsnap1 A G 11: 4,834,096 (GRCm39) Y95C possibly damaging Het
Npc1l1 C A 11: 6,168,643 (GRCm39) E913* probably null Het
Nup205 T C 6: 35,209,349 (GRCm39) L1552P probably damaging Het
Or2t46 A G 11: 58,472,539 (GRCm39) N290D probably damaging Het
Or4c112 G T 2: 88,854,199 (GRCm39) Y49* probably null Het
Or52h7 T A 7: 104,213,677 (GRCm39) V83D probably damaging Het
Or7c70 C T 10: 78,683,201 (GRCm39) E183K probably benign Het
Osm A C 11: 4,188,426 (GRCm39) I18L unknown Het
Otoa T A 7: 120,710,217 (GRCm39) S254R probably damaging Het
Parp1 T C 1: 180,427,155 (GRCm39) probably benign Het
Pcdh17 A G 14: 84,770,551 (GRCm39) I1010V probably benign Het
Peli2 A T 14: 48,490,032 (GRCm39) probably null Het
Pkd1l3 T G 8: 110,388,738 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,151,524 (GRCm39) probably benign Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Potegl A T 2: 23,102,817 (GRCm39) Y185F possibly damaging Het
Ptpn13 A T 5: 103,664,214 (GRCm39) T401S probably benign Het
Rgs22 C T 15: 36,043,350 (GRCm39) probably null Het
Rttn T G 18: 89,061,152 (GRCm39) S1107A probably benign Het
Scn5a G T 9: 119,366,702 (GRCm39) N328K probably benign Het
Sned1 G A 1: 93,217,089 (GRCm39) A1325T probably benign Het
St8sia4 T A 1: 95,588,595 (GRCm39) E80V probably benign Het
Stard7 T C 2: 127,134,176 (GRCm39) probably benign Het
Suco G T 1: 161,647,990 (GRCm39) P1099T probably damaging Het
Syn2 G T 6: 115,251,221 (GRCm39) C459F probably damaging Het
Tas2r117 A C 6: 132,780,041 (GRCm39) I60L probably benign Het
Tomm70a T C 16: 56,965,150 (GRCm39) C445R probably damaging Het
Tpsab1 T A 17: 25,564,102 (GRCm39) D87V probably benign Het
Trgc4 A G 13: 19,536,416 (GRCm39) Y158C unknown Het
Trpm6 A T 19: 18,815,446 (GRCm39) E1177D possibly damaging Het
Vmn2r71 A T 7: 85,273,499 (GRCm39) D771V probably damaging Het
Vmn2r93 A T 17: 18,525,220 (GRCm39) T293S probably damaging Het
Other mutations in Ncl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Ncl APN 1 86,284,091 (GRCm39) critical splice donor site probably null
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
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
Posted On 2016-08-02