Incidental Mutation 'IGL02644:Rpl27'
ID 301894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl27
Ensembl Gene ENSMUSG00000063316
Gene Name ribosomal protein L27
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # IGL02644
Quality Score
Status
Chromosome 11
Chromosomal Location 101333124-101336355 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 101336317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010502] [ENSMUST00000077856] [ENSMUST00000107249] [ENSMUST00000127514] [ENSMUST00000131024]
AlphaFold P61358
Predicted Effect probably benign
Transcript: ENSMUST00000010502
SMART Domains Protein: ENSMUSP00000010502
Gene: ENSMUSG00000010358

DomainStartEndE-ValueType
Pfam:IFP_35_N 8 80 9.1e-21 PFAM
Pfam:NID 81 170 1.5e-31 PFAM
Pfam:NID 179 266 1.6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077856
SMART Domains Protein: ENSMUSP00000090305
Gene: ENSMUSG00000063316

DomainStartEndE-ValueType
KOW 4 31 2.14e-3 SMART
Pfam:Ribosomal_L27e 52 136 1.5e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107249
SMART Domains Protein: ENSMUSP00000102870
Gene: ENSMUSG00000063316

DomainStartEndE-ValueType
KOW 4 31 2.14e-3 SMART
Pfam:Ribosomal_L27e 52 136 1.1e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125958
Predicted Effect probably benign
Transcript: ENSMUST00000127514
SMART Domains Protein: ENSMUSP00000120418
Gene: ENSMUSG00000063316

DomainStartEndE-ValueType
Pfam:Ribosomal_L27e 1 32 5.3e-12 PFAM
Pfam:Ribosomal_L27e 30 87 1.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131024
SMART Domains Protein: ENSMUSP00000117189
Gene: ENSMUSG00000010358

DomainStartEndE-ValueType
Pfam:IFP_35_N 8 45 2.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139939
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152162
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L27E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A T 3: 151,198,007 (GRCm39) Y89F probably benign Het
Agl A G 3: 116,580,246 (GRCm39) Y406H probably damaging Het
Ankhd1 G A 18: 36,711,828 (GRCm39) probably null Het
Ankmy1 T C 1: 92,812,776 (GRCm39) D511G probably benign Het
Arid2 T C 15: 96,266,589 (GRCm39) Y546H probably damaging Het
Asap1 G T 15: 63,982,911 (GRCm39) P806T probably damaging Het
Aspa T A 11: 73,212,992 (GRCm39) T117S probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bspry A T 4: 62,414,565 (GRCm39) H386L probably damaging Het
C1qc T C 4: 136,617,629 (GRCm39) T156A possibly damaging Het
Cfhr4 A G 1: 139,708,905 (GRCm39) M1T probably null Het
Copz2 A T 11: 96,744,257 (GRCm39) probably benign Het
Cybb A G X: 9,333,395 (GRCm39) V23A probably benign Het
D630003M21Rik T A 2: 158,058,730 (GRCm39) D390V possibly damaging Het
Dennd10 T A 19: 60,810,741 (GRCm39) S43T possibly damaging Het
Dpy19l2 G T 9: 24,569,888 (GRCm39) P355Q probably damaging Het
Gcn1 A T 5: 115,713,250 (GRCm39) Q71L probably benign Het
Gpd1l T C 9: 114,732,725 (GRCm39) probably null Het
Hydin A G 8: 111,265,100 (GRCm39) D2761G probably damaging Het
Ifi202b T A 1: 173,799,280 (GRCm39) H256L probably benign Het
Igkv8-24 T C 6: 70,193,872 (GRCm39) Y112C probably damaging Het
Lama3 G A 18: 12,658,910 (GRCm39) R2022Q probably benign Het
Mroh4 T A 15: 74,482,224 (GRCm39) R675S possibly damaging Het
Mtf1 T G 4: 124,714,028 (GRCm39) C146G probably damaging Het
Nubpl A G 12: 52,317,841 (GRCm39) D178G probably damaging Het
Or7e165 A C 9: 19,695,010 (GRCm39) I194L probably benign Het
Pam16 A G 16: 4,434,697 (GRCm39) S91P probably damaging Het
Pcdhac2 A G 18: 37,278,232 (GRCm39) E404G probably benign Het
Pde7a C A 3: 19,311,031 (GRCm39) probably benign Het
Perm1 G T 4: 156,303,043 (GRCm39) G529V probably damaging Het
Pik3c2a T C 7: 115,972,049 (GRCm39) T794A probably benign Het
Ppfibp1 A G 6: 146,923,938 (GRCm39) Y722C probably damaging Het
Ppm1m A T 9: 106,074,082 (GRCm39) I241N probably damaging Het
Psd T C 19: 46,311,834 (GRCm39) Y282C probably damaging Het
Scaf1 A G 7: 44,655,357 (GRCm39) probably benign Het
Sec14l2 A T 11: 4,053,380 (GRCm39) probably benign Het
Smchd1 T A 17: 71,667,016 (GRCm39) probably benign Het
Sptb A T 12: 76,652,391 (GRCm39) D1615E probably damaging Het
Stt3a A C 9: 36,663,649 (GRCm39) C198G possibly damaging Het
Tas2r144 T C 6: 42,192,787 (GRCm39) S176P possibly damaging Het
Tlr13 A G X: 105,200,503 (GRCm39) D80G probably benign Het
Tmco4 A G 4: 138,737,920 (GRCm39) probably benign Het
Tnpo2 T A 8: 85,771,109 (GRCm39) C132S possibly damaging Het
Tubgcp3 T C 8: 12,698,733 (GRCm39) D406G probably damaging Het
Vmn2r125 G A 4: 156,703,294 (GRCm39) R224Q probably benign Het
Zfp524 C A 7: 5,020,479 (GRCm39) D2E probably damaging Het
Other mutations in Rpl27
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0166:Rpl27 UTSW 11 101,336,146 (GRCm39) missense possibly damaging 0.90
R0319:Rpl27 UTSW 11 101,334,321 (GRCm39) unclassified probably benign
R0492:Rpl27 UTSW 11 101,336,081 (GRCm39) missense possibly damaging 0.72
R6358:Rpl27 UTSW 11 101,334,782 (GRCm39) unclassified probably benign
R7148:Rpl27 UTSW 11 101,333,232 (GRCm39) unclassified probably benign
Posted On 2015-04-16