Incidental Mutation 'R0183:Mrps23'
ID 23905
Institutional Source Beutler Lab
Gene Symbol Mrps23
Ensembl Gene ENSMUSG00000023723
Gene Name mitochondrial ribosomal protein S23
Synonyms Rpms23, D11Bwg1153e, 2310047I09Rik
MMRRC Submission 038448-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R0183 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 11
Chromosomal Location 88095214-88102333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88100980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 57 (E57G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024486] [ENSMUST00000107915] [ENSMUST00000118784] [ENSMUST00000139170]
AlphaFold Q8VE22
Predicted Effect probably damaging
Transcript: ENSMUST00000024486
AA Change: E115G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024486
Gene: ENSMUSG00000023723
AA Change: E115G

DomainStartEndE-ValueType
Pfam:MRP-S23 2 130 2e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107915
SMART Domains Protein: ENSMUSP00000103548
Gene: ENSMUSG00000023723

DomainStartEndE-ValueType
Pfam:MRP-S23 2 99 1.1e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118784
AA Change: E96G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113512
Gene: ENSMUSG00000023723
AA Change: E96G

DomainStartEndE-ValueType
Pfam:MRP-S23 1 114 1.7e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139170
AA Change: E96G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117416
Gene: ENSMUSG00000023723
AA Change: E96G

DomainStartEndE-ValueType
Pfam:MRP-S23 1 114 4.8e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144070
AA Change: E57G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122963
Gene: ENSMUSG00000023723
AA Change: E57G

DomainStartEndE-ValueType
Pfam:MRP-S23 15 73 8.9e-18 PFAM
Meta Mutation Damage Score 0.5205 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 84% (42/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C T 5: 77,034,082 (GRCm39) D490N probably benign Het
Aatf A T 11: 84,401,251 (GRCm39) probably null Het
Amer3 T A 1: 34,626,838 (GRCm39) I359K probably damaging Het
Appl1 A T 14: 26,684,811 (GRCm39) D79E probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Baz1a T A 12: 54,958,172 (GRCm39) E1026D probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Card14 C T 11: 119,217,524 (GRCm39) R386C probably damaging Het
Cenpb T C 2: 131,020,373 (GRCm39) probably benign Het
Clcn4 G A 7: 7,298,090 (GRCm39) Q40* probably null Het
Clec16a T C 16: 10,377,886 (GRCm39) Y28H probably damaging Het
Cul4a T C 8: 13,183,790 (GRCm39) S393P probably damaging Het
Dcbld2 A G 16: 58,265,722 (GRCm39) D194G possibly damaging Het
Dnah6 C T 6: 73,059,906 (GRCm39) V2841I probably damaging Het
Eaf1 T A 14: 31,217,272 (GRCm39) L16Q probably damaging Het
Eef1e1 C T 13: 38,840,162 (GRCm39) A48T probably damaging Het
Exoc3l C A 8: 106,021,932 (GRCm39) R57L probably damaging Het
Faf1 A G 4: 109,792,807 (GRCm39) N593S probably benign Het
Fosb A G 7: 19,041,310 (GRCm39) I61T probably damaging Het
Fstl5 A C 3: 76,229,579 (GRCm39) I127L possibly damaging Het
Gas2l2 T A 11: 83,319,882 (GRCm39) M125L probably benign Het
Gcnt1 C T 19: 17,306,481 (GRCm39) D415N probably benign Het
Gtpbp4 A G 13: 9,024,997 (GRCm39) M531T probably benign Het
Gucy1b2 T A 14: 62,656,589 (GRCm39) K256M probably damaging Het
Igf2bp2 A T 16: 21,897,480 (GRCm39) Y244* probably null Het
Jkamp T C 12: 72,140,809 (GRCm39) I118T possibly damaging Het
Kalrn A T 16: 33,991,749 (GRCm39) probably null Het
Kcnma1 A T 14: 23,558,120 (GRCm39) D317E probably damaging Het
Lipo2 A T 19: 33,726,951 (GRCm39) probably null Het
Lrig3 T A 10: 125,846,061 (GRCm39) I830K probably damaging Het
Map3k4 A G 17: 12,454,015 (GRCm39) I1429T probably damaging Het
Mkks G A 2: 136,722,606 (GRCm39) L184F probably benign Het
Mmp19 C T 10: 128,634,872 (GRCm39) T424I possibly damaging Het
Myh7 T C 14: 55,216,333 (GRCm39) T1282A probably benign Het
Or2y10 A G 11: 49,455,675 (GRCm39) D309G probably benign Het
Or8k1 T A 2: 86,047,173 (GRCm39) S294C probably damaging Het
Phf19 T C 2: 34,801,214 (GRCm39) N75S probably damaging Het
Pink1 T G 4: 138,041,490 (GRCm39) H477P probably damaging Het
Ppp6r2 G A 15: 89,169,990 (GRCm39) C835Y probably damaging Het
Prkcq T C 2: 11,257,973 (GRCm39) I295T probably damaging Het
Ptpn13 T C 5: 103,664,274 (GRCm39) S421P probably benign Het
Ptpn6 A G 6: 124,705,914 (GRCm39) S77P probably damaging Het
Ptpre G T 7: 135,271,574 (GRCm39) M389I probably benign Het
Ranbp9 T C 13: 43,578,599 (GRCm39) D158G probably damaging Het
Sec14l3 C T 11: 4,025,547 (GRCm39) S357L probably benign Het
Slc1a6 A G 10: 78,627,067 (GRCm39) T135A probably damaging Het
Spef2 A T 15: 9,716,445 (GRCm39) D323E possibly damaging Het
Taf2 T A 15: 54,919,186 (GRCm39) K396N possibly damaging Het
Tcf12 A T 9: 71,824,309 (GRCm39) V94E probably damaging Het
Trim24 T A 6: 37,920,415 (GRCm39) I404N possibly damaging 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
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
R2917:Mrps23 UTSW 11 88,100,743 (GRCm39) missense probably damaging 1.00
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'- TGTCAGCGGTAAGCATTTCCCAG -3'
(R):5'- CCCTGCCCATTTTATGGACAGAGAG -3'

Sequencing Primer
(F):5'- TTTCCCAGGCCCAAGTAAATATAG -3'
(R):5'- ACAATACCAATTGAAATTtgtgtgtg -3'
Posted On 2013-04-16