Incidental Mutation 'R6464:Rpl23'
ID 517747
Institutional Source Beutler Lab
Gene Symbol Rpl23
Ensembl Gene ENSMUSG00000071415
Gene Name ribosomal protein L23
Synonyms 2810009A01Rik
MMRRC Submission 044597-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.973) question?
Stock # R6464 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 97668353-97673263 bp(-) (GRCm39)
Type of Mutation splice site (3119 bp from exon)
DNA Base Change (assembly) T to C at 97669111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117316 (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: N107S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099435
Gene: ENSMUSG00000071415
AA Change: N107S

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 null
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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (48/48)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,265,354 (GRCm39) S769T probably damaging Het
Apoe G A 7: 19,431,461 (GRCm39) T52M probably damaging Het
Arhgef10l A C 4: 140,314,126 (GRCm39) M230R probably benign Het
Cdkl4 A T 17: 80,832,781 (GRCm39) I321N probably benign Het
Ceacam5 T C 7: 17,481,391 (GRCm39) probably null Het
Cfap70 T C 14: 20,451,107 (GRCm39) probably null Het
Clasp2 A G 9: 113,602,785 (GRCm39) Y195C probably damaging Het
Clip2 T C 5: 134,520,779 (GRCm39) I999V probably benign Het
Cntnap5a A G 1: 116,112,138 (GRCm39) D476G probably benign Het
Col6a6 C T 9: 105,666,152 (GRCm39) M1I probably null Het
Cyp27a1 T C 1: 74,775,047 (GRCm39) V292A possibly damaging Het
Cyp2c29 A G 19: 39,317,669 (GRCm39) Y385C probably damaging Het
Dsg3 A C 18: 20,666,583 (GRCm39) R597S probably benign Het
Fam131c T C 4: 141,109,653 (GRCm39) I95T probably damaging Het
Fam13b A T 18: 34,606,684 (GRCm39) C302* probably null Het
Fkbp15 T C 4: 62,226,315 (GRCm39) K745E possibly damaging Het
Flg T A 3: 93,188,688 (GRCm39) probably benign Het
Gm11559 T C 11: 99,755,542 (GRCm39) C64R unknown Het
Helt T C 8: 46,745,571 (GRCm39) D104G probably damaging Het
Helz2 T C 2: 180,876,862 (GRCm39) T1211A probably benign Het
Ifna9 T C 4: 88,510,487 (GRCm39) R46G possibly damaging Het
Kif20b G A 19: 34,911,841 (GRCm39) V235I probably benign Het
Kif7 A G 7: 79,363,842 (GRCm39) V22A possibly damaging Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Lipf A T 19: 33,950,944 (GRCm39) Y305F probably benign Het
Lpar1 A G 4: 58,486,875 (GRCm39) L132P possibly damaging Het
Magi1 A T 6: 93,676,770 (GRCm39) V834E probably damaging Het
Meltf T C 16: 31,709,594 (GRCm39) Y432H probably benign Het
Mroh2a G C 1: 88,185,524 (GRCm39) E1510D probably damaging Het
Myo1f T C 17: 33,795,621 (GRCm39) L59P probably damaging Het
Naa25 G A 5: 121,556,024 (GRCm39) D271N probably damaging Het
Or10ag55-ps1 A T 2: 87,139,951 (GRCm39) I273F probably damaging Het
Or8u3-ps A T 2: 85,952,752 (GRCm39) I162F possibly damaging Het
Otoa A G 7: 120,701,828 (GRCm39) Q169R probably damaging Het
Pde4dip C T 3: 97,617,660 (GRCm39) D1723N probably damaging Het
Ptdss2 T C 7: 140,732,124 (GRCm39) V175A probably damaging Het
Rdh8 G T 9: 20,734,696 (GRCm39) R121L probably damaging Het
Scn5a T C 9: 119,363,646 (GRCm39) D498G probably damaging Het
Slc39a14 G C 14: 70,544,177 (GRCm39) L470V probably damaging Het
Smok2a C T 17: 13,445,317 (GRCm39) A298V probably damaging Het
Tesk2 A C 4: 116,660,046 (GRCm39) D388A probably damaging Het
Tnik G A 3: 28,666,119 (GRCm39) probably null Het
Ube3a T A 7: 58,925,931 (GRCm39) Y236* probably null Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vinac1 T C 2: 128,881,465 (GRCm39) T154A possibly damaging Het
Vmn1r74 A T 7: 11,581,131 (GRCm39) I144L possibly damaging Het
Vmn2r1 G A 3: 64,008,766 (GRCm39) D482N probably benign Het
Vwf T C 6: 125,616,363 (GRCm39) probably null Het
Wdr97 A G 15: 76,246,977 (GRCm39) T1413A probably benign Het
Zfp703 C G 8: 27,469,355 (GRCm39) P340A probably damaging Het
Znfx1 T C 2: 166,888,842 (GRCm39) S789G probably benign Het
Other mutations in Rpl23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01878:Rpl23 APN 11 97,669,177 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACACTGGAGAATCATGCAATGC -3'
(R):5'- ATCCTTGCCAGTAGCTGATGG -3'

Sequencing Primer
(F):5'- GATGCAATTCTGGGCCACAAGTC -3'
(R):5'- GCCAGTAGCTGATGGAAATTTTATG -3'
Posted On 2018-05-21