Incidental Mutation 'IGL01821:Nol7'
ID 154558
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nol7
Ensembl Gene ENSMUSG00000063200
Gene Name nucleolar protein 7
Synonyms RARG-1, 2210008F15Rik, NOP27, 5730556I21Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # IGL01821
Quality Score
Status
Chromosome 13
Chromosomal Location 43551852-43556334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43552216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 87 (K87R)
Ref Sequence ENSEMBL: ENSMUSP00000152581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066804] [ENSMUST00000071926] [ENSMUST00000144326] [ENSMUST00000222499] [ENSMUST00000223194] [ENSMUST00000222651]
AlphaFold Q9D7Z3
Predicted Effect probably benign
Transcript: ENSMUST00000066804
SMART Domains Protein: ENSMUSP00000071048
Gene: ENSMUSG00000054021

DomainStartEndE-ValueType
Pfam:SIR2 58 256 5.3e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071926
AA Change: K87R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000071818
Gene: ENSMUSG00000063200
AA Change: K87R

DomainStartEndE-ValueType
low complexity region 24 32 N/A INTRINSIC
low complexity region 44 63 N/A INTRINSIC
low complexity region 66 85 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 150 161 N/A INTRINSIC
Pfam:NUC129 167 229 1.1e-34 PFAM
low complexity region 236 251 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144326
SMART Domains Protein: ENSMUSP00000130636
Gene: ENSMUSG00000038546

DomainStartEndE-ValueType
low complexity region 2 114 N/A INTRINSIC
SPRY 194 315 1.66e-43 SMART
LisH 347 379 6.82e-5 SMART
CTLH 385 442 9.78e-15 SMART
low complexity region 455 478 N/A INTRINSIC
CRA 596 698 1.6e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220997
Predicted Effect probably benign
Transcript: ENSMUST00000221092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222305
Predicted Effect probably benign
Transcript: ENSMUST00000222499
AA Change: K87R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000222754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222416
Predicted Effect probably benign
Transcript: ENSMUST00000223194
Predicted Effect probably benign
Transcript: ENSMUST00000222651
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the nucleolus, where it maintains nucleolar structure and cell growth rates. The encoded protein also functions as a tumor suppressor and regulator of angiogenesis. The RB tumor suppressor gene recruits transcription factors to this gene and positively regulates its expression. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 T C 10: 20,917,142 (GRCm39) probably null Het
Ahnak A G 19: 8,989,482 (GRCm39) I3589V probably benign Het
Arhgdia A T 11: 120,471,031 (GRCm39) L56Q probably damaging Het
Camk2b C T 11: 5,947,890 (GRCm39) D112N possibly damaging Het
Eml6 A G 11: 29,771,699 (GRCm39) V664A probably benign Het
Gstm2 T C 3: 107,892,369 (GRCm39) D119G possibly damaging Het
Hic2 T C 16: 17,075,695 (GRCm39) F175L probably benign Het
Ifi214 T C 1: 173,356,891 (GRCm39) I71V probably damaging Het
Igkv17-121 G A 6: 68,013,848 (GRCm39) C16Y unknown Het
Inpp4a T C 1: 37,416,798 (GRCm39) S435P probably damaging Het
Irgm1 A G 11: 48,757,353 (GRCm39) S153P probably damaging Het
Lactb A T 9: 66,878,180 (GRCm39) S216R probably damaging Het
Or9m2 T A 2: 87,820,933 (GRCm39) H159Q probably benign Het
Patj G T 4: 98,344,448 (GRCm39) G18W probably damaging Het
Pjvk G T 2: 76,486,259 (GRCm39) G220C probably damaging Het
Prtg T C 9: 72,819,219 (GRCm39) Y1071H probably damaging Het
Psmb8 C A 17: 34,417,517 (GRCm39) Q49K probably benign Het
Rhcg C A 7: 79,248,346 (GRCm39) L419F probably benign Het
Slc6a5 A G 7: 49,564,601 (GRCm39) probably benign Het
Slc9a9 A G 9: 95,111,003 (GRCm39) D607G probably benign Het
Tenm2 G A 11: 35,914,710 (GRCm39) L2275F probably damaging Het
Thoc1 A G 18: 9,993,429 (GRCm39) D596G probably benign Het
Tie1 A G 4: 118,341,835 (GRCm39) F205L probably damaging Het
Traf7 G A 17: 24,729,473 (GRCm39) S446F probably damaging Het
Trnt1 G A 6: 106,751,436 (GRCm39) V138I probably damaging Het
Tsnaxip1 A T 8: 106,564,148 (GRCm39) Q116L probably damaging Het
Wdr47 T C 3: 108,534,520 (GRCm39) S480P probably damaging Het
Other mutations in Nol7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03011:Nol7 APN 13 43,554,769 (GRCm39) unclassified probably benign
R0743:Nol7 UTSW 13 43,554,091 (GRCm39) missense probably benign 0.19
R0884:Nol7 UTSW 13 43,554,091 (GRCm39) missense probably benign 0.19
R1480:Nol7 UTSW 13 43,552,104 (GRCm39) missense probably damaging 0.99
R4379:Nol7 UTSW 13 43,555,051 (GRCm39) missense probably damaging 1.00
R5435:Nol7 UTSW 13 43,554,848 (GRCm39) missense possibly damaging 0.54
R7185:Nol7 UTSW 13 43,560,307 (GRCm39) critical splice acceptor site probably null
R7487:Nol7 UTSW 13 43,552,076 (GRCm39) missense probably damaging 1.00
R8052:Nol7 UTSW 13 43,554,990 (GRCm39) missense probably damaging 1.00
R8986:Nol7 UTSW 13 43,554,985 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04