Incidental Mutation 'R6946:Nop53'
ID 557074
Institutional Source Beutler Lab
Gene Symbol Nop53
Ensembl Gene ENSMUSG00000041560
Gene Name NOP53 ribosome biogenesis factor
Synonyms 9430097C02Rik, Gltscr2
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R6946 (G1)
Quality Score 71.0074
Status Validated
Chromosome 7
Chromosomal Location 15671760-15680033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15672283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 462 (R462Q)
Ref Sequence ENSEMBL: ENSMUSP00000043981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044158]
AlphaFold Q8BK35
Predicted Effect probably damaging
Transcript: ENSMUST00000044158
AA Change: R462Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043981
Gene: ENSMUSG00000041560
AA Change: R462Q

DomainStartEndE-ValueType
Pfam:Nop53 41 451 6e-102 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 95.7%
Validation Efficiency 100% (42/42)
MGI Phenotype PHENOTYPE: Homozygous knockout is pre-implantation embryonic lethal. Heterozygous knockout reduces incidence of chemically induced skin papilloma. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,624,953 (GRCm39) S481C probably damaging Het
Atp8a1 T C 5: 67,779,968 (GRCm39) T1142A possibly damaging Het
Atxn1l G T 8: 110,458,648 (GRCm39) P538H probably damaging Het
Carmil1 T C 13: 24,299,528 (GRCm39) N332S possibly damaging Het
Clec4b2 C T 6: 123,177,987 (GRCm39) Q101* probably null Het
Clstn2 A T 9: 97,351,875 (GRCm39) F517I probably damaging Het
Dap3 T A 3: 88,845,523 (GRCm39) probably benign Het
Dgki C A 6: 37,276,571 (GRCm39) G105* probably null Het
Dnm3 T C 1: 162,141,224 (GRCm39) E345G possibly damaging Het
Fam120a A T 13: 49,034,496 (GRCm39) S1039T possibly damaging Het
Gpr132 T A 12: 112,815,830 (GRCm39) Y332F probably benign Het
Ifi44 A T 3: 151,451,536 (GRCm39) I190N possibly damaging Het
Ighv1-42 T A 12: 114,901,155 (GRCm39) N4Y possibly damaging Het
Igll1 A G 16: 16,678,920 (GRCm39) V130A probably damaging Het
Ikzf2 T A 1: 69,616,955 (GRCm39) K137* probably null Het
Klra9 T A 6: 130,156,003 (GRCm39) I251F probably benign Het
Lrp1b T C 2: 40,587,451 (GRCm39) I166V probably benign Het
Map3k1 C T 13: 111,905,035 (GRCm39) W213* probably null Het
Map3k12 A G 15: 102,413,569 (GRCm39) M134T possibly damaging Het
Mfsd3 T A 15: 76,587,349 (GRCm39) M344K probably damaging Het
Mier2 C A 10: 79,376,673 (GRCm39) probably benign Het
Oog2 A T 4: 143,923,034 (GRCm39) D433V possibly damaging Het
Or5p76 T A 7: 108,122,528 (GRCm39) I210F probably benign Het
Or7d11 A T 9: 19,966,670 (GRCm39) L30M possibly damaging Het
Or8g30 C A 9: 39,230,315 (GRCm39) L198F probably damaging Het
Or8k38 T A 2: 86,487,932 (GRCm39) Y290F probably damaging Het
Pan2 A G 10: 128,151,506 (GRCm39) T867A probably benign Het
Pcdhb3 T A 18: 37,435,672 (GRCm39) L546Q probably damaging Het
Plcg2 A T 8: 118,230,929 (GRCm39) M4L probably benign Het
Prss21 T C 17: 24,087,138 (GRCm39) S24P possibly damaging Het
Ryr3 T C 2: 112,661,545 (GRCm39) D1815G probably damaging Het
Scd4 A G 19: 44,321,953 (GRCm39) E8G probably null Het
Sec31b T C 19: 44,522,755 (GRCm39) D79G probably damaging Het
Siah1a G T 8: 87,451,770 (GRCm39) A238E probably damaging Het
Spag17 G A 3: 99,911,999 (GRCm39) E290K possibly damaging Het
Srl T C 16: 4,300,423 (GRCm39) I883V probably benign Het
Tas2r117 T C 6: 132,780,288 (GRCm39) L142S probably damaging Het
Trgv1 T C 13: 19,524,190 (GRCm39) L2P probably benign Het
Ttn A T 2: 76,580,199 (GRCm39) W23565R probably damaging Het
Vipr2 A T 12: 116,102,819 (GRCm39) T310S possibly damaging Het
Zfp112 A T 7: 23,824,766 (GRCm39) N245Y probably damaging Het
Other mutations in Nop53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Nop53 APN 7 15,674,082 (GRCm39) missense probably damaging 1.00
IGL01558:Nop53 APN 7 15,679,751 (GRCm39) unclassified probably benign
IGL02519:Nop53 APN 7 15,673,197 (GRCm39) splice site probably benign
levophed UTSW 7 15,679,779 (GRCm39) missense possibly damaging 0.91
R0315:Nop53 UTSW 7 15,679,235 (GRCm39) missense probably damaging 1.00
R1614:Nop53 UTSW 7 15,679,890 (GRCm39) missense probably benign 0.04
R2004:Nop53 UTSW 7 15,672,153 (GRCm39) missense probably damaging 1.00
R4169:Nop53 UTSW 7 15,676,244 (GRCm39) missense probably benign 0.01
R4760:Nop53 UTSW 7 15,676,812 (GRCm39) missense probably benign 0.07
R4788:Nop53 UTSW 7 15,676,240 (GRCm39) missense possibly damaging 0.82
R4830:Nop53 UTSW 7 15,676,129 (GRCm39) missense probably damaging 0.97
R5734:Nop53 UTSW 7 15,679,887 (GRCm39) splice site probably null
R6136:Nop53 UTSW 7 15,672,314 (GRCm39) nonsense probably null
R6688:Nop53 UTSW 7 15,679,779 (GRCm39) missense possibly damaging 0.91
R7384:Nop53 UTSW 7 15,673,420 (GRCm39) missense probably damaging 1.00
Z1177:Nop53 UTSW 7 15,675,670 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- ACTGAATCTCACGGTAGGCC -3'
(R):5'- ACATTGACTTCAGTATAGAGCCCC -3'

Sequencing Primer
(F):5'- GTAGGCCCGCTTCTCCAC -3'
(R):5'- ACTTCAGTATAGAGCCCCCTGGAG -3'
Posted On 2019-06-10