Incidental Mutation 'R2917:Mrps23'
ID 254913
Institutional Source Beutler Lab
Gene Symbol Mrps23
Ensembl Gene ENSMUSG00000023723
Gene Name mitochondrial ribosomal protein S23
Synonyms Rpms23, D11Bwg1153e, 2310047I09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R2917 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 88095214-88102333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88100743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 75 (S75P)
Ref Sequence ENSEMBL: ENSMUSP00000117416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024486] [ENSMUST00000107915] [ENSMUST00000118784] [ENSMUST00000139170]
AlphaFold Q8VE22
Predicted Effect possibly damaging
Transcript: ENSMUST00000024486
AA Change: S94P

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024486
Gene: ENSMUSG00000023723
AA Change: S94P

DomainStartEndE-ValueType
Pfam:MRP-S23 2 130 2e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107915
AA Change: S94P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103548
Gene: ENSMUSG00000023723
AA Change: S94P

DomainStartEndE-ValueType
Pfam:MRP-S23 2 99 1.1e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118784
AA Change: S75P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113512
Gene: ENSMUSG00000023723
AA Change: S75P

DomainStartEndE-ValueType
Pfam:MRP-S23 1 114 1.7e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139170
AA Change: S75P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117416
Gene: ENSMUSG00000023723
AA Change: S75P

DomainStartEndE-ValueType
Pfam:MRP-S23 1 114 4.8e-39 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000144070
AA Change: S36P
SMART Domains Protein: ENSMUSP00000122963
Gene: ENSMUSG00000023723
AA Change: S36P

DomainStartEndE-ValueType
Pfam:MRP-S23 15 73 8.9e-18 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 7p. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T A 17: 57,192,141 (GRCm39) V568E probably damaging Het
Ap3m2 A G 8: 23,289,815 (GRCm39) V96A probably benign Het
Bglap3 G C 3: 88,276,819 (GRCm39) probably benign Het
Brd7 A G 8: 89,069,408 (GRCm39) I429T probably damaging Het
Cacna1h A C 17: 25,614,426 (GRCm39) L230R probably damaging Het
Camta2 A G 11: 70,571,787 (GRCm39) F479S probably damaging Het
Cmya5 A T 13: 93,227,572 (GRCm39) Y2505* probably null Het
Colgalt2 T A 1: 152,347,495 (GRCm39) V143D probably damaging Het
Dnaja1 C T 4: 40,724,052 (GRCm39) A71V possibly damaging Het
Gpr33 A G 12: 52,070,379 (GRCm39) V220A possibly damaging Het
Hsph1 A T 5: 149,554,251 (GRCm39) L168* probably null Het
Lig4 T A 8: 10,021,596 (GRCm39) E728V possibly damaging Het
Or2aa1 T C 11: 59,480,265 (GRCm39) T217A probably benign Het
Or5af2 A G 11: 58,708,314 (GRCm39) N160S probably damaging Het
Prss50 G T 9: 110,691,613 (GRCm39) G306C probably null Het
Rnf149 A T 1: 39,591,564 (GRCm39) S392T probably benign Het
Scn8a T A 15: 100,937,613 (GRCm39) F1661I probably damaging Het
Slc12a8 T A 16: 33,371,296 (GRCm39) I144N probably damaging Het
Stxbp5l A T 16: 37,021,004 (GRCm39) L630* probably null Het
Tmem131l G A 3: 83,844,887 (GRCm39) R441* probably null Het
Trim63 T C 4: 134,050,462 (GRCm39) Y249H probably damaging Het
Vmn2r125 T G 4: 156,703,564 (GRCm39) L314R probably benign Het
Vwf A G 6: 125,585,106 (GRCm39) N663D probably benign Het
Other mutations in Mrps23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03081:Mrps23 APN 11 88,101,043 (GRCm39) missense probably benign 0.02
IGL03247:Mrps23 APN 11 88,100,922 (GRCm39) splice site probably benign
R0183:Mrps23 UTSW 11 88,100,980 (GRCm39) missense probably damaging 1.00
R0347:Mrps23 UTSW 11 88,101,519 (GRCm39) missense probably benign
R0492:Mrps23 UTSW 11 88,101,511 (GRCm39) missense probably benign 0.02
R2698:Mrps23 UTSW 11 88,096,193 (GRCm39) intron probably benign
R3434:Mrps23 UTSW 11 88,100,940 (GRCm39) missense probably damaging 1.00
R7393:Mrps23 UTSW 11 88,095,284 (GRCm39) missense probably damaging 1.00
R9702:Mrps23 UTSW 11 88,100,998 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAAGGGAGTGTTAGGCCTCC -3'
(R):5'- CCCATACTAGGCCTGTGTTG -3'

Sequencing Primer
(F):5'- AGTGTTAGGCCTCCCTGAGATC -3'
(R):5'- TGTTGGGGCTACAGAGACATC -3'
Posted On 2014-12-29