Incidental Mutation 'IGL01878:Rpl23'
ID 178936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl23
Ensembl Gene ENSMUSG00000071415
Gene Name ribosomal protein L23
Synonyms 2810009A01Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.973) question?
Stock # IGL01878
Quality Score
Status
Chromosome 11
Chromosomal Location 97668353-97673263 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97669177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 85 (R85L)
Ref Sequence ENSEMBL: ENSMUSP00000099435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103146] [ENSMUST00000107576] [ENSMUST00000128801]
AlphaFold P62830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082967
Predicted Effect probably benign
Transcript: ENSMUST00000103146
AA Change: R85L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099435
Gene: ENSMUSG00000071415
AA Change: R85L

DomainStartEndE-ValueType
low complexity region 4 11 N/A INTRINSIC
Ribosomal_L14 19 140 2.71e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107576
SMART Domains Protein: ENSMUSP00000103202
Gene: ENSMUSG00000018543

DomainStartEndE-ValueType
Pfam:DUF4542 12 146 5.8e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128801
SMART Domains Protein: ENSMUSP00000117316
Gene: ENSMUSG00000071415

DomainStartEndE-ValueType
PDB:2ZKR|K 13 60 9e-27 PDB
SCOP:d1jj2j_ 19 60 4e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183504
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 L14P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL17 because the encoded protein shares amino acid identity with ribosomal protein L17 from Saccharomyces cerevisiae; however, its official symbol is RPL23. 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox8 G T 11: 69,087,864 (GRCm39) Q147K probably benign Het
Ankib1 T A 5: 3,784,152 (GRCm39) M275L possibly damaging Het
Asb2 G A 12: 103,287,922 (GRCm39) P546S possibly damaging Het
B9d1 T C 11: 61,398,449 (GRCm39) probably benign Het
Col12a1 T C 9: 79,557,257 (GRCm39) D1957G possibly damaging Het
Cryzl2 T C 1: 157,299,970 (GRCm39) V44A possibly damaging Het
Fbxw19 A C 9: 109,312,347 (GRCm39) probably benign Het
Gabrb3 T C 7: 57,466,163 (GRCm39) F326L probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm11168 T C 9: 3,005,204 (GRCm39) C16R probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm7808 T A 9: 19,839,542 (GRCm39) probably benign Het
Gpam T C 19: 55,071,806 (GRCm39) I312V probably benign Het
H2-M10.5 A G 17: 37,084,708 (GRCm39) Y144C probably damaging Het
Hivep3 T C 4: 119,952,424 (GRCm39) S247P possibly damaging Het
Hs3st4 T G 7: 123,996,536 (GRCm39) C401G probably damaging Het
Klhl2 A G 8: 65,212,858 (GRCm39) V227A probably damaging Het
Lct T C 1: 128,222,003 (GRCm39) N1512S probably damaging Het
Lipm T A 19: 34,093,911 (GRCm39) L276Q possibly damaging Het
Lmf2 T A 15: 89,236,621 (GRCm39) H515L probably damaging Het
Mccc1 G A 3: 36,030,041 (GRCm39) S423L probably damaging Het
Mettl21e G A 1: 44,250,193 (GRCm39) S71L probably null Het
Muc16 T A 9: 18,406,839 (GRCm39) H251L possibly damaging Het
Neb T C 2: 52,059,852 (GRCm39) probably benign Het
Ntf5 T C 7: 45,065,450 (GRCm39) I194T probably damaging Het
Or10ag58 T C 2: 87,265,314 (GRCm39) I161T possibly damaging Het
Or1o4 A G 17: 37,590,891 (GRCm39) V140A possibly damaging Het
Or2w6 T C 13: 21,842,953 (GRCm39) D180G possibly damaging Het
Or4x11 T C 2: 89,867,478 (GRCm39) S72P probably damaging Het
Or9m1 A T 2: 87,733,675 (GRCm39) L115* probably null Het
Pigv T C 4: 133,392,428 (GRCm39) I247M probably benign Het
Pik3r5 A G 11: 68,383,356 (GRCm39) N392D probably benign Het
Postn A G 3: 54,290,901 (GRCm39) probably null Het
Prl2c5 G A 13: 13,360,402 (GRCm39) S23N probably benign Het
Prpf40b T C 15: 99,204,413 (GRCm39) C220R possibly damaging Het
Pzp A G 6: 128,472,261 (GRCm39) S843P probably damaging Het
Shcbp1 A G 8: 4,799,721 (GRCm39) S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 (GRCm39) probably null Het
Sptbn4 T C 7: 27,063,571 (GRCm39) E2285G probably damaging Het
Telo2 G T 17: 25,320,332 (GRCm39) T784K probably benign Het
Tnfrsf19 C T 14: 61,234,093 (GRCm39) V136M probably damaging Het
Trpm5 T A 7: 142,628,234 (GRCm39) I22F probably damaging Het
Trpv6 G T 6: 41,603,801 (GRCm39) probably benign Het
Vmn1r173 T G 7: 23,401,877 (GRCm39) H37Q probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Xpo6 T A 7: 125,773,365 (GRCm39) H20L probably benign Het
Zfp462 T C 4: 55,010,613 (GRCm39) Y860H probably damaging Het
Other mutations in Rpl23
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6464:Rpl23 UTSW 11 97,669,111 (GRCm39) splice site probably null
Posted On 2014-05-07