Incidental Mutation 'R4379:Nol7'
ID 377762
Institutional Source Beutler Lab
Gene Symbol Nol7
Ensembl Gene ENSMUSG00000063200
Gene Name nucleolar protein 7
Synonyms RARG-1, 2210008F15Rik, NOP27, 5730556I21Rik
MMRRC Submission 041677-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R4379 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 43551852-43556334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 43555051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 228 (W228L)
Ref Sequence ENSEMBL: ENSMUSP00000152581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071926] [ENSMUST00000144326] [ENSMUST00000222499] [ENSMUST00000222651]
AlphaFold Q9D7Z3
Predicted Effect probably damaging
Transcript: ENSMUST00000071926
AA Change: W228L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071818
Gene: ENSMUSG00000063200
AA Change: W228L

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 damaging
Transcript: ENSMUST00000222499
AA Change: W228L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000222754
AA Change: W55L
Predicted Effect probably benign
Transcript: ENSMUST00000222651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223188
Meta Mutation Damage Score 0.8860 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 95% (53/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,915,875 (GRCm39) H1252Q probably benign Het
Adcy3 T C 12: 4,184,558 (GRCm39) L78P probably damaging Het
Agmat G T 4: 141,484,802 (GRCm39) A282S probably benign Het
Akap8 G T 17: 32,525,534 (GRCm39) T515K probably damaging Het
Akap8l T C 17: 32,540,488 (GRCm39) probably benign Het
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
AW209491 T C 13: 14,812,412 (GRCm39) *422Q probably null Het
Cdan1 A G 2: 120,557,099 (GRCm39) F576L probably damaging Het
Cers5 A G 15: 99,649,134 (GRCm39) F45L probably damaging Het
Dst A G 1: 34,267,056 (GRCm39) I5011V probably benign Het
Dst T C 1: 34,202,316 (GRCm39) S215P probably damaging Het
En1 A G 1: 120,531,084 (GRCm39) N108S possibly damaging Het
Entrep3 A T 3: 89,093,064 (GRCm39) D274V probably damaging Het
Fancd2 T C 6: 113,538,677 (GRCm39) S591P probably benign Het
Glt1d1 T C 5: 127,771,346 (GRCm39) V279A possibly damaging Het
Gm10051 C T 5: 133,504,287 (GRCm39) noncoding transcript Het
Gpr158 G T 2: 21,830,025 (GRCm39) G690V probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Grm7 T A 6: 111,223,335 (GRCm39) N458K probably benign Het
Hibadh G A 6: 52,597,027 (GRCm39) S139L probably damaging Het
Hivep1 C T 13: 42,308,906 (GRCm39) S382F probably damaging Het
Ift74 A G 4: 94,568,171 (GRCm39) N403D probably benign Het
Igkv4-81 A G 6: 68,967,933 (GRCm39) L56S probably damaging Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lmbr1l G T 15: 98,807,144 (GRCm39) C212* probably null Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Lrrc34 A G 3: 30,685,524 (GRCm39) L275P probably damaging Het
Mgam2-ps T C 6: 40,810,793 (GRCm39) noncoding transcript Het
Mief1 T G 15: 80,132,160 (GRCm39) M77R possibly damaging Het
Neurod6 T C 6: 55,656,257 (GRCm39) T127A probably damaging Het
Nif3l1 A C 1: 58,494,738 (GRCm39) probably benign Het
Nlrp12 T A 7: 3,288,554 (GRCm39) T653S probably benign Het
Nrp1 G A 8: 129,194,948 (GRCm39) R468H probably damaging Het
Or5ac15 C T 16: 58,940,027 (GRCm39) M135I probably benign Het
Or7g34 A G 9: 19,478,038 (GRCm39) L211P probably benign Het
Pbrm1 A T 14: 30,789,663 (GRCm39) H785L probably damaging Het
Pus7 T C 5: 23,953,864 (GRCm39) probably benign Het
Qser1 G T 2: 104,596,404 (GRCm39) probably null Het
Rrm1 T C 7: 102,095,800 (GRCm39) V51A probably damaging Het
Setbp1 T C 18: 79,129,896 (GRCm39) N112S probably damaging Het
Svil C T 18: 5,046,909 (GRCm39) H52Y probably damaging Het
Taf1d T A 9: 15,223,277 (GRCm39) probably benign Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Treml1 A G 17: 48,667,424 (GRCm39) Y103C probably damaging Het
Trim28 A T 7: 12,763,407 (GRCm39) D516V probably damaging Het
Usp34 T A 11: 23,334,499 (GRCm39) N1164K possibly damaging Het
Vmn2r115 A G 17: 23,564,197 (GRCm39) Y123C possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zfp28 C T 7: 6,396,441 (GRCm39) T292I probably benign Het
Zmynd8 A T 2: 165,649,858 (GRCm39) probably null Het
Zscan4d A G 7: 10,898,905 (GRCm39) V124A probably benign Het
Other mutations in Nol7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01821:Nol7 APN 13 43,552,216 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- AAGCTACATGGCTGTAAGGC -3'
(R):5'- CCTATAAGAGAACAGAAGCTCCAGG -3'

Sequencing Primer
(F):5'- GGTTCAGATTCCAAAAGGACTACTG -3'
(R):5'- GCTCCAGGTGTAAAAACAGTC -3'
Posted On 2016-04-01