Incidental Mutation 'R5078:Rps23'
ID 386979
Institutional Source Beutler Lab
Gene Symbol Rps23
Ensembl Gene ENSMUSG00000049517
Gene Name ribosomal protein S23
Synonyms 2410044J15Rik
MMRRC Submission 042667-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R5078 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 91071241-91072851 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91071822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 41 (F41L)
Ref Sequence ENSEMBL: ENSMUSP00000054490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051955]
AlphaFold P62267
Predicted Effect probably benign
Transcript: ENSMUST00000051955
AA Change: F41L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000054490
Gene: ENSMUSG00000049517
AA Change: F41L

DomainStartEndE-ValueType
Pfam:Ribosom_S12_S23 8 142 1.4e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224463
Meta Mutation Damage Score 0.1488 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (53/53)
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 40S subunit. The protein belongs to the S12P family of ribosomal proteins. It is located in the cytoplasm. The protein shares significant amino acid similarity with S. cerevisiae ribosomal protein S28. 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 T C 16: 4,141,771 (GRCm39) S345G probably benign Het
Adgrf2 A T 17: 43,021,877 (GRCm39) F316I probably damaging Het
Ank2 A G 3: 126,736,002 (GRCm39) probably benign Het
Auts2 T C 5: 132,287,786 (GRCm39) K66E possibly damaging Het
Bicra T C 7: 15,709,382 (GRCm39) D1144G probably damaging Het
Cabin1 A G 10: 75,557,312 (GRCm39) S1109P probably damaging Het
Camkv T C 9: 107,822,572 (GRCm39) V29A probably damaging Het
Ccdc178 A T 18: 22,200,685 (GRCm39) probably null Het
Ccser1 G A 6: 61,288,350 (GRCm39) R171H probably damaging Het
Cdk19 A G 10: 40,312,150 (GRCm39) Y133C probably damaging Het
Cerkl T A 2: 79,223,352 (GRCm39) D123V probably benign Het
Chd1 T C 17: 15,946,616 (GRCm39) S121P possibly damaging Het
Col4a2 T C 8: 11,493,936 (GRCm39) V1459A probably benign Het
Dlg1 T A 16: 31,675,287 (GRCm39) Y704* probably null Het
Dsg2 T C 18: 20,729,140 (GRCm39) probably null Het
Egln3 T C 12: 54,228,453 (GRCm39) R218G probably damaging Het
Gm11568 T C 11: 99,749,181 (GRCm39) C129R unknown Het
Gm13991 T C 2: 116,358,355 (GRCm39) noncoding transcript Het
Gmnc C A 16: 26,784,332 (GRCm39) V58L probably benign Het
Gpx5 A G 13: 21,472,881 (GRCm39) F151S probably damaging Het
Helz G A 11: 107,546,922 (GRCm39) G1079R probably damaging Het
Ice1 T C 13: 70,752,969 (GRCm39) E1039G probably benign Het
Kif18a T C 2: 109,125,487 (GRCm39) probably benign Het
Klhl29 T C 12: 5,143,530 (GRCm39) T500A possibly damaging Het
Lrfn5 A C 12: 61,890,660 (GRCm39) K650Q possibly damaging Het
Lrp2 T C 2: 69,331,874 (GRCm39) D1627G possibly damaging Het
Nxn T C 11: 76,152,433 (GRCm39) K354E probably damaging Het
Or5d20-ps1 T A 2: 87,931,879 (GRCm39) I151L probably benign Het
Pcnx2 T C 8: 126,478,895 (GRCm39) T2118A probably benign Het
Phldb2 A G 16: 45,598,105 (GRCm39) F861L possibly damaging Het
Piezo2 A G 18: 63,157,607 (GRCm39) Y2368H probably damaging Het
Pnp T A 14: 51,188,963 (GRCm39) L252* probably null Het
Prom2 T C 2: 127,373,757 (GRCm39) Q641R probably benign Het
Prpf31 T C 7: 3,637,702 (GRCm39) S180P possibly damaging Het
Prss27 C A 17: 24,263,414 (GRCm39) Y142* probably null Het
Ripk1 T G 13: 34,201,082 (GRCm39) M265R probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ropn1 T A 16: 34,487,161 (GRCm39) D32E probably damaging Het
Sec24d A G 3: 123,084,201 (GRCm39) I127V probably benign Het
Selenot C T 3: 58,492,692 (GRCm39) R60W probably damaging Het
Tll1 T C 8: 64,546,921 (GRCm39) K342E probably damaging Het
Tlx1 A T 19: 45,144,460 (GRCm39) N61Y probably damaging Het
Vmn2r117 T A 17: 23,679,122 (GRCm39) I701F probably damaging Het
Zmynd12 A G 4: 119,302,047 (GRCm39) K229E probably damaging Het
Other mutations in Rps23
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4910:Rps23 UTSW 13 91,071,871 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- AACGTCCCTTCTGCTGAAGC -3'
(R):5'- AACTTTAGTAATCTCATCCCTGGC -3'

Sequencing Primer
(F):5'- CTGAAGCTCGTGTGCGGAAG -3'
(R):5'- TAGTAATCTCATCCCTGGCCGAAC -3'
Posted On 2016-06-06