Incidental Mutation 'IGL01506:Nop53'
ID89073
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: 0.961) question?
Stock #IGL01506
Quality Score
Status
Chromosome7
Chromosomal Location15936183-15946074 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 15940157 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 249 (P249L)
Ref Sequence ENSEMBL: ENSMUSP00000043981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044158]
Predicted Effect probably damaging
Transcript: ENSMUST00000044158
AA Change: P249L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043981
Gene: ENSMUSG00000041560
AA Change: P249L

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,297,447 V2398A probably benign Het
Abhd2 T A 7: 79,325,452 I130N possibly damaging Het
Adamts15 A T 9: 30,922,134 I35N probably benign Het
Car8 T A 4: 8,169,761 E249V probably damaging Het
Dpp8 A G 9: 65,063,417 probably benign Het
Gstm2 T G 3: 107,985,243 probably null Het
Kcnmb4 A G 10: 116,473,346 V59A probably benign Het
Krt76 T C 15: 101,892,400 I154V probably damaging Het
Lama1 G A 17: 67,785,070 R1646H probably benign Het
Larp1b C A 3: 41,033,440 Y32* probably null Het
Magea4 G A X: 72,222,770 D252N probably damaging Het
Mat1a C A 14: 41,109,438 A41E probably damaging Het
Neb A T 2: 52,247,190 V3190E probably damaging Het
Olfr907 A G 9: 38,498,875 I69V probably benign Het
Osbpl7 T C 11: 97,052,300 L126P probably benign Het
Plxna4 A T 6: 32,516,535 L382Q probably damaging Het
Poli G A 18: 70,509,731 T403I probably benign Het
Slc44a2 T C 9: 21,337,950 Y9H probably benign Het
Snx4 T C 16: 33,264,254 probably benign Het
Son A T 16: 91,657,286 I974L possibly damaging Het
Stil T C 4: 115,024,112 S618P probably benign Het
Syndig1 C T 2: 149,899,757 R88C probably damaging Het
Trpm1 T A 7: 64,243,581 F944L probably damaging Het
Other mutations in Nop53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01558:Nop53 APN 7 15945826 unclassified probably benign
IGL02519:Nop53 APN 7 15939272 splice site 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 On2013-12-03