Incidental Mutation 'IGL02519:Nop53'
ID296903
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nop53
Ensembl Gene ENSMUSG00000041560
Gene NameNOP53 ribosome biogenesis factor
SynonymsGltscr2, 9430097C02Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock #IGL02519
Quality Score
Status
Chromosome7
Chromosomal Location15936183-15946074 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 15939272 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044158]
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
4932438A13Rik A G 3: 36,895,315 E370G probably damaging Het
Adamts13 A T 2: 26,978,675 I224F probably damaging Het
Adamts17 A G 7: 67,124,973 T947A possibly damaging Het
Ankfn1 T C 11: 89,405,678 E75G probably benign Het
Arfgef1 G T 1: 10,209,668 H225N probably benign Het
Arsi A G 18: 60,917,067 S341G probably damaging Het
Aspm T A 1: 139,461,927 probably benign Het
Cacna1i C T 15: 80,361,874 R490* probably null Het
Cd33 C T 7: 43,528,729 probably benign Het
Clmn T C 12: 104,791,853 I135V probably damaging Het
Crebbp A T 16: 4,101,593 N795K possibly damaging Het
Dhps A G 8: 85,073,299 D126G probably damaging Het
Dlg2 G T 7: 91,940,115 V196L possibly damaging Het
Dsg1c T A 18: 20,283,733 I897N probably damaging Het
Dzip3 A G 16: 48,928,396 L1059S probably damaging Het
Epha7 A T 4: 28,821,494 T220S possibly damaging Het
Fgf17 A G 14: 70,638,528 I88T probably damaging Het
G3bp2 A G 5: 92,066,524 V137A possibly damaging Het
Gnal G A 18: 67,088,765 E80K unknown Het
Hectd1 T G 12: 51,769,111 S1393R probably damaging Het
Igsf6 T C 7: 121,068,273 I173M possibly damaging Het
Il2ra A C 2: 11,683,090 E227A possibly damaging Het
Iqcf6 C T 9: 106,627,280 R48C probably damaging Het
Kdm3a G T 6: 71,611,586 Q480K probably benign Het
Larp4b C A 13: 9,158,580 A423E probably benign Het
Magea6 T C X: 154,924,745 D105G probably benign Het
Olfr307 A T 7: 86,335,581 F272I probably benign Het
Olfr338 T C 2: 36,377,313 L179P possibly damaging Het
Pgghg A G 7: 140,944,981 T352A possibly damaging Het
Setd2 T C 9: 110,553,116 S1464P probably damaging Het
Sspo C A 6: 48,484,828 T3609N probably damaging Het
Sulf1 T A 1: 12,838,363 Y533* probably null Het
Thsd7b A G 1: 129,613,195 S346G probably benign Het
Tmem161b T A 13: 84,294,744 L261Q probably damaging Het
Tmem63b T A 17: 45,665,208 T493S possibly damaging Het
Tmprss11d A T 5: 86,306,305 C214S probably damaging Het
Trim16 A T 11: 62,834,079 E144V possibly damaging Het
Unc13d T C 11: 116,070,533 Y356C probably damaging Het
Urgcp A T 11: 5,717,745 F198I probably benign Het
Vmn2r111 T C 17: 22,548,339 I726V possibly damaging Het
Zzz3 A T 3: 152,427,390 E28D probably damaging Het
Other mutations in Nop53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Nop53 APN 7 15940157 missense probably damaging 1.00
IGL01558:Nop53 APN 7 15945826 unclassified probably benign
levophed UTSW 7 15945854 missense possibly damaging 0.91
R0315:Nop53 UTSW 7 15945310 missense probably damaging 1.00
R1614:Nop53 UTSW 7 15945965 missense probably benign 0.04
R2004:Nop53 UTSW 7 15938228 missense probably damaging 1.00
R4169:Nop53 UTSW 7 15942319 missense probably benign 0.01
R4760:Nop53 UTSW 7 15942887 missense probably benign 0.07
R4788:Nop53 UTSW 7 15942315 missense possibly damaging 0.82
R4830:Nop53 UTSW 7 15942204 missense probably damaging 0.97
R5734:Nop53 UTSW 7 15945962 unclassified probably null
R6136:Nop53 UTSW 7 15938389 nonsense probably null
R6688:Nop53 UTSW 7 15945854 missense possibly damaging 0.91
R6946:Nop53 UTSW 7 15938358 missense probably damaging 0.99
R7384:Nop53 UTSW 7 15939495 missense probably damaging 1.00
Z1177:Nop53 UTSW 7 15941745 missense probably benign 0.35
Posted On2015-04-16