Incidental Mutation 'R4064:Mrps24'
Institutional Source Beutler Lab
Gene Symbol Mrps24
Ensembl Gene ENSMUSG00000020477
Gene Namemitochondrial ribosomal protein S24
Synonyms3110030K20Rik, Rpms24
MMRRC Submission 041620-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock #R4064 (G1)
Quality Score225
Status Validated
Chromosomal Location5703983-5715680 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 5704676 bp
Amino Acid Change Arginine to Stop codon at position 93 (R93*)
Ref Sequence ENSEMBL: ENSMUSP00000119535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000154330]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000020770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149980
Predicted Effect probably null
Transcript: ENSMUST00000154330
AA Change: R93*
SMART Domains Protein: ENSMUSP00000119535
Gene: ENSMUSG00000020477
AA Change: R93*

Pfam:MRP-S24 36 167 1.1e-61 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (44/44)
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 11. Read-through transcription exists between this gene and the upstream upregulator of cell proliferation (URGCP) gene. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T G 19: 43,804,993 Y361* probably null Het
Afmid A G 11: 117,836,528 T293A probably benign Het
Ago4 A T 4: 126,515,862 probably benign Het
Alkbh2 C T 5: 114,124,226 E148K probably damaging Het
Axl C A 7: 25,764,020 V602L probably benign Het
Cdc5l C T 17: 45,410,890 A485T probably benign Het
Duoxa2 G T 2: 122,300,577 S73I probably damaging Het
Espl1 A G 15: 102,312,989 I944V probably damaging Het
Etfdh T C 3: 79,605,791 E435G possibly damaging Het
Fbxo15 C T 18: 84,959,118 R52C probably damaging Het
Fosb G T 7: 19,305,192 C186* probably null Het
Gtpbp2 G A 17: 46,167,327 R467H probably damaging Het
Hnrnpll T C 17: 80,032,772 H526R probably benign Het
Mphosph9 A T 5: 124,290,917 F683I probably damaging Het
Nhlh2 A G 3: 102,012,736 D28G probably benign Het
Olfr1 A T 11: 73,395,522 S167T probably benign Het
Olfr1141 A G 2: 87,753,789 F68S probably damaging Het
Otogl A T 10: 107,790,649 D1451E probably benign Het
Otop2 G A 11: 115,329,375 G347D probably damaging Het
Parp4 A G 14: 56,624,140 S977G probably benign Het
Psmb7 T C 2: 38,640,176 T98A probably damaging Het
Pus10 A G 11: 23,728,983 K485R probably damaging Het
Rab11fip3 T C 17: 26,024,394 D588G probably damaging Het
Rgl2 T A 17: 33,937,108 D723E possibly damaging Het
Rp1 A T 1: 4,345,400 S1830T probably benign Het
Rreb1 T C 13: 37,930,317 S551P probably benign Het
Serpinb7 A T 1: 107,446,036 E127D probably benign Het
Sh3pxd2b G T 11: 32,422,263 A477S probably benign Het
Slc26a9 T C 1: 131,763,187 Y568H probably benign Het
Tarsl2 G A 7: 65,652,270 A181T possibly damaging Het
Tbc1d2b T A 9: 90,218,922 K672* probably null Het
Tmem59l T C 8: 70,485,719 T168A probably damaging Het
Tshz2 A G 2: 169,962,325 probably benign Het
Vmn1r9 T C 6: 57,071,321 F127S probably damaging Het
Zfp282 G A 6: 47,880,094 R87H probably damaging Het
Zfp292 A G 4: 34,810,863 V727A probably damaging Het
Zscan22 C T 7: 12,907,014 T395I probably damaging Het
Other mutations in Mrps24
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0791:Mrps24 UTSW 11 5704684 missense possibly damaging 0.72
R4060:Mrps24 UTSW 11 5704676 nonsense probably null
R4062:Mrps24 UTSW 11 5704676 nonsense probably null
R5963:Mrps24 UTSW 11 5707481 splice site probably benign
R6598:Mrps24 UTSW 11 5704713 missense probably benign 0.00
R6974:Mrps24 UTSW 11 5704663 missense probably benign 0.00
R7984:Mrps24 UTSW 11 5707495 missense possibly damaging 0.63
Z1176:Mrps24 UTSW 11 5704538 missense possibly damaging 0.91
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-05-15