Incidental Mutation 'IGL03011:Nol7'
ID 407793
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 # IGL03011
Quality Score
Status
Chromosome 13
Chromosomal Location 43551852-43556334 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 43554769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000071926] [ENSMUST00000144326] [ENSMUST00000222499] [ENSMUST00000222651]
AlphaFold Q9D7Z3
Predicted Effect probably benign
Transcript: ENSMUST00000071926
SMART Domains Protein: ENSMUSP00000071818
Gene: ENSMUSG00000063200

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 noncoding transcript
Transcript: ENSMUST00000222416
Predicted Effect probably benign
Transcript: ENSMUST00000222499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223188
Predicted Effect probably benign
Transcript: ENSMUST00000222651
Predicted Effect probably benign
Transcript: ENSMUST00000222754
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Apob C A 12: 8,047,883 (GRCm39) P941Q probably damaging Het
Armc9 T A 1: 86,127,638 (GRCm39) probably null Het
Arpc5l T C 2: 38,903,730 (GRCm39) probably benign Het
Atg2b C A 12: 105,592,621 (GRCm39) D1745Y probably damaging Het
Atp9a A G 2: 168,494,552 (GRCm39) V651A probably damaging Het
Ccnyl1 T C 1: 64,747,631 (GRCm39) I148T possibly damaging Het
Cfap95 T A 19: 23,630,017 (GRCm39) D25V unknown Het
Chrna6 A T 8: 27,903,682 (GRCm39) W17R possibly damaging Het
Cpne1 G A 2: 155,919,917 (GRCm39) H244Y probably damaging Het
Cpxm2 A G 7: 131,650,807 (GRCm39) Y618H possibly damaging Het
Csf1r T C 18: 61,243,473 (GRCm39) I163T probably benign Het
Ctdsp1 T C 1: 74,434,606 (GRCm39) probably benign Het
Ctsb T A 14: 63,370,806 (GRCm39) I6N probably benign Het
Dcbld1 A G 10: 52,160,244 (GRCm39) N44S probably damaging Het
Dnah11 C T 12: 117,976,112 (GRCm39) C2769Y probably benign Het
Efemp2 C A 19: 5,530,093 (GRCm39) Q187K probably damaging Het
Elavl3 A T 9: 21,947,612 (GRCm39) I109N probably damaging Het
Elovl5 G T 9: 77,890,066 (GRCm39) K292N probably benign Het
Epb41 G T 4: 131,731,105 (GRCm39) P1T probably damaging Het
Gm44865 G T 7: 108,165,007 (GRCm39) probably benign Het
Gnat2 C A 3: 108,007,368 (GRCm39) T262K probably damaging Het
Katnip T C 7: 125,451,174 (GRCm39) C1102R probably benign Het
Kmt2e A T 5: 23,702,540 (GRCm39) I951F probably damaging Het
Large2 T C 2: 92,197,927 (GRCm39) H258R probably damaging Het
Lnx1 G A 5: 74,846,420 (GRCm39) P10L probably benign Het
Lrp6 G A 6: 134,497,380 (GRCm39) S209L possibly damaging Het
Mc3r A G 2: 172,091,716 (GRCm39) I313V probably benign Het
Med1 T C 11: 98,051,859 (GRCm39) D468G possibly damaging Het
Mlxip T C 5: 123,584,014 (GRCm39) S526P probably benign Het
Myo15a T C 11: 60,400,357 (GRCm39) probably benign Het
Nedd1 T C 10: 92,525,503 (GRCm39) D602G possibly damaging Het
Or8c10 T C 9: 38,279,364 (GRCm39) I174T possibly damaging Het
Piezo2 T C 18: 63,257,731 (GRCm39) D329G probably benign Het
Pkia G T 3: 7,507,142 (GRCm39) E75* probably null Het
Pramel26 A C 4: 143,538,330 (GRCm39) F214V possibly damaging Het
Ptpn14 A T 1: 189,571,754 (GRCm39) T282S probably damaging Het
Ptprg C T 14: 12,219,029 (GRCm38) P408S probably damaging Het
Rpa2 A G 4: 132,502,358 (GRCm39) I147V probably benign Het
Serpina12 T C 12: 103,997,397 (GRCm39) T375A possibly damaging Het
Serpinb11 T A 1: 107,307,546 (GRCm39) S326T probably damaging Het
Slc18a1 T C 8: 69,491,515 (GRCm39) T500A probably benign Het
Tapt1 A G 5: 44,350,529 (GRCm39) F247L possibly damaging Het
Trav8d-2 A G 14: 53,280,218 (GRCm39) I69M possibly damaging Het
Other mutations in Nol7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01821:Nol7 APN 13 43,552,216 (GRCm39) missense probably benign 0.02
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 2016-08-02