Incidental Mutation 'R0315:Nop53'
ID 25402
Institutional Source Beutler Lab
Gene Symbol Nop53
Ensembl Gene ENSMUSG00000041560
Gene Name NOP53 ribosome biogenesis factor
Synonyms 9430097C02Rik, Gltscr2
MMRRC Submission 038525-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R0315 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 15671760-15680033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15679235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 90 (D90G)
Ref Sequence ENSEMBL: ENSMUSP00000043981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044158] [ENSMUST00000098799]
AlphaFold Q8BK35
Predicted Effect probably damaging
Transcript: ENSMUST00000044158
AA Change: D90G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043981
Gene: ENSMUSG00000041560
AA Change: D90G

DomainStartEndE-ValueType
Pfam:Nop53 41 451 6e-102 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098799
SMART Domains Protein: ENSMUSP00000096397
Gene: ENSMUSG00000074364

DomainStartEndE-ValueType
Pfam:EHD_N 24 56 4.1e-19 PFAM
Pfam:MMR_HSR1 60 220 2.2e-7 PFAM
Pfam:Dynamin_N 61 221 2.4e-14 PFAM
EH 443 536 2.96e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198688
SMART Domains Protein: ENSMUSP00000143400
Gene: ENSMUSG00000041560

DomainStartEndE-ValueType
Pfam:Nop53 1 156 1.4e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200455
Meta Mutation Damage Score 0.8969 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.9%
  • 20x: 88.9%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,826,378 (GRCm39) R409Q possibly damaging Het
Ank3 A T 10: 69,838,347 (GRCm39) Q825L probably damaging Het
Ap1g1 A G 8: 110,545,667 (GRCm39) I107V probably benign Het
Bub1b A T 2: 118,457,457 (GRCm39) probably benign Het
Cd86 C T 16: 36,441,306 (GRCm39) V54I possibly damaging Het
Dpys T G 15: 39,720,734 (GRCm39) I9L probably benign Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Flg2 G T 3: 93,122,029 (GRCm39) G1400C unknown Het
Gm28042 T C 2: 119,869,538 (GRCm39) L634P probably damaging Het
Gm6712 G A 17: 17,536,380 (GRCm39) noncoding transcript Het
Gpbp1 T G 13: 111,573,072 (GRCm39) E360A possibly damaging Het
Hmgn1 A C 16: 95,926,017 (GRCm39) I52R probably benign Het
Ing2 A C 8: 48,122,125 (GRCm39) M141R probably benign Het
Klhl2 A T 8: 65,196,053 (GRCm39) Y563* probably null Het
Lrrc9 A G 12: 72,502,802 (GRCm39) T258A probably damaging Het
Map1b A T 13: 99,567,624 (GRCm39) I1699N unknown Het
Map2k5 A T 9: 63,210,433 (GRCm39) H185Q probably damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Mroh1 C T 15: 76,311,800 (GRCm39) A511V possibly damaging Het
Or10k2 T C 8: 84,268,001 (GRCm39) V76A possibly damaging Het
Or5b97 A T 19: 12,878,598 (GRCm39) V182D possibly damaging Het
Or5w20 A T 2: 87,727,410 (GRCm39) Y289F probably damaging Het
Or6c209 T A 10: 129,483,366 (GRCm39) I123N probably damaging Het
Pkd2 T A 5: 104,607,716 (GRCm39) S72T possibly damaging Het
Prc1 T C 7: 79,963,284 (GRCm39) S587P probably damaging Het
Rdh7 G T 10: 127,724,265 (GRCm39) T73K possibly damaging Het
Runx1 T C 16: 92,402,655 (GRCm39) N429S probably damaging Het
Skint7 G A 4: 111,845,315 (GRCm39) A376T possibly damaging Het
Slc16a14 T C 1: 84,890,217 (GRCm39) I363V possibly damaging Het
Smarcal1 C T 1: 72,634,970 (GRCm39) Q350* probably null Het
Soat1 T A 1: 156,268,083 (GRCm39) K275* probably null Het
Speg T C 1: 75,391,780 (GRCm39) V1571A possibly damaging Het
Stat5b G C 11: 100,679,286 (GRCm39) D605E probably benign Het
Susd4 G A 1: 182,686,077 (GRCm39) R209H probably benign Het
Tlr1 T G 5: 65,084,271 (GRCm39) D102A probably damaging Het
Tm4sf5 A G 11: 70,401,462 (GRCm39) N154D probably damaging Het
Tmigd3 T A 3: 105,824,085 (GRCm39) M18K probably damaging Het
Ube2h A T 6: 30,241,412 (GRCm39) V86E probably damaging Het
Utp20 A G 10: 88,643,283 (GRCm39) L613P probably damaging Het
Vmn2r117 G A 17: 23,679,139 (GRCm39) S695L probably benign Het
Washc5 T C 15: 59,213,825 (GRCm39) D427G probably damaging Het
Zfp462 T A 4: 55,079,314 (GRCm39) F2403I 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
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
R6946:Nop53 UTSW 7 15,672,283 (GRCm39) missense probably damaging 0.99
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'- CCCTCCAAACTTGTGATCAAGACTGT -3'
(R):5'- GCTCGGTGTGGGAGACCTATCAAT -3'

Sequencing Primer
(F):5'- GTTTCCAAAATgagagagagagaaag -3'
(R):5'- cgaactcaagtttcctctgcc -3'
Posted On 2013-04-16