Incidental Mutation 'IGL02519:Nop53'
ID 296903
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02519
Quality Score
Status
Chromosome 7
Chromosomal Location 15671760-15680033 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 15673197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044158]
AlphaFold Q8BK35
Predicted Effect probably benign
Transcript: ENSMUST00000044158
SMART Domains Protein: ENSMUSP00000043981
Gene: ENSMUSG00000041560

DomainStartEndE-ValueType
Pfam:Nop53 41 451 6e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116828
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
Coding Region Coverage
Validation Efficiency
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
Adamts13 A T 2: 26,868,687 (GRCm39) I224F probably damaging Het
Adamts17 A G 7: 66,774,721 (GRCm39) T947A possibly damaging Het
Ankfn1 T C 11: 89,296,504 (GRCm39) E75G probably benign Het
Arfgef1 G T 1: 10,279,893 (GRCm39) H225N probably benign Het
Arsi A G 18: 61,050,139 (GRCm39) S341G probably damaging Het
Aspm T A 1: 139,389,665 (GRCm39) probably benign Het
Bltp1 A G 3: 36,949,464 (GRCm39) E370G probably damaging Het
Cacna1i C T 15: 80,246,075 (GRCm39) R490* probably null Het
Cd33 C T 7: 43,178,153 (GRCm39) probably benign Het
Clmn T C 12: 104,758,112 (GRCm39) I135V probably damaging Het
Crebbp A T 16: 3,919,457 (GRCm39) N795K possibly damaging Het
Dhps A G 8: 85,799,928 (GRCm39) D126G probably damaging Het
Dlg2 G T 7: 91,589,323 (GRCm39) V196L possibly damaging Het
Dsg1c T A 18: 20,416,790 (GRCm39) I897N probably damaging Het
Dzip3 A G 16: 48,748,759 (GRCm39) L1059S probably damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Fgf17 A G 14: 70,875,968 (GRCm39) I88T probably damaging Het
G3bp2 A G 5: 92,214,383 (GRCm39) V137A possibly damaging Het
Gnal G A 18: 67,221,836 (GRCm39) E80K unknown Het
Hectd1 T G 12: 51,815,894 (GRCm39) S1393R probably damaging Het
Igsf6 T C 7: 120,667,496 (GRCm39) I173M possibly damaging Het
Il2ra A C 2: 11,687,901 (GRCm39) E227A possibly damaging Het
Iqcf6 C T 9: 106,504,479 (GRCm39) R48C probably damaging Het
Kdm3a G T 6: 71,588,570 (GRCm39) Q480K probably benign Het
Larp4b C A 13: 9,208,616 (GRCm39) A423E probably benign Het
Magea6 T C X: 153,707,741 (GRCm39) D105G probably benign Het
Or14a260 A T 7: 85,984,789 (GRCm39) F272I probably benign Het
Or1j10 T C 2: 36,267,325 (GRCm39) L179P possibly damaging Het
Pgghg A G 7: 140,524,894 (GRCm39) T352A possibly damaging Het
Setd2 T C 9: 110,382,184 (GRCm39) S1464P probably damaging Het
Sspo C A 6: 48,461,762 (GRCm39) T3609N probably damaging Het
Sulf1 T A 1: 12,908,587 (GRCm39) Y533* probably null Het
Thsd7b A G 1: 129,540,932 (GRCm39) S346G probably benign Het
Tmem161b T A 13: 84,442,863 (GRCm39) L261Q probably damaging Het
Tmem63b T A 17: 45,976,134 (GRCm39) T493S possibly damaging Het
Tmprss11d A T 5: 86,454,164 (GRCm39) C214S probably damaging Het
Trim16 A T 11: 62,724,905 (GRCm39) E144V possibly damaging Het
Unc13d T C 11: 115,961,359 (GRCm39) Y356C probably damaging Het
Urgcp A T 11: 5,667,745 (GRCm39) F198I probably benign Het
Vmn2r111 T C 17: 22,767,320 (GRCm39) I726V possibly damaging Het
Zzz3 A T 3: 152,133,027 (GRCm39) E28D 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
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
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
Posted On 2015-04-16