Incidental Mutation 'R4064:Mrps24'
ID 316021
Institutional Source Beutler Lab
Gene Symbol Mrps24
Ensembl Gene ENSMUSG00000020477
Gene Name mitochondrial ribosomal protein S24
Synonyms 3110030K20Rik, Rpms24
MMRRC Submission 041620-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R4064 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 5653982-5657701 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 5654676 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CQV5
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*

DomainStartEndE-ValueType
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: 43,793,432 (GRCm39) Y361* probably null Het
Afmid A G 11: 117,727,354 (GRCm39) T293A probably benign Het
Ago4 A T 4: 126,409,655 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Axl C A 7: 25,463,445 (GRCm39) V602L probably benign Het
Cdc5l C T 17: 45,721,816 (GRCm39) A485T probably benign Het
Duoxa2 G T 2: 122,131,058 (GRCm39) S73I probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Etfdh T C 3: 79,513,098 (GRCm39) E435G possibly damaging Het
Fbxo15 C T 18: 84,977,243 (GRCm39) R52C probably damaging Het
Fosb G T 7: 19,039,117 (GRCm39) C186* probably null Het
Gtpbp2 G A 17: 46,478,253 (GRCm39) R467H probably damaging Het
Hnrnpll T C 17: 80,340,201 (GRCm39) H526R probably benign Het
Mphosph9 A T 5: 124,428,980 (GRCm39) F683I probably damaging Het
Nhlh2 A G 3: 101,920,052 (GRCm39) D28G probably benign Het
Or1e16 A T 11: 73,286,348 (GRCm39) S167T probably benign Het
Or5w17 A G 2: 87,584,133 (GRCm39) F68S probably damaging Het
Otogl A T 10: 107,626,510 (GRCm39) D1451E probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Parp4 A G 14: 56,861,597 (GRCm39) S977G probably benign Het
Psmb7 T C 2: 38,530,188 (GRCm39) T98A probably damaging Het
Pus10 A G 11: 23,678,983 (GRCm39) K485R probably damaging Het
Rab11fip3 T C 17: 26,243,368 (GRCm39) D588G probably damaging Het
Rgl2 T A 17: 34,156,082 (GRCm39) D723E possibly damaging Het
Rp1 A T 1: 4,415,623 (GRCm39) S1830T probably benign Het
Rreb1 T C 13: 38,114,293 (GRCm39) S551P probably benign Het
Serpinb7 A T 1: 107,373,766 (GRCm39) E127D probably benign Het
Sh3pxd2b G T 11: 32,372,263 (GRCm39) A477S probably benign Het
Slc26a9 T C 1: 131,690,925 (GRCm39) Y568H probably benign Het
Tars3 G A 7: 65,302,018 (GRCm39) A181T possibly damaging Het
Tbc1d2b T A 9: 90,100,975 (GRCm39) K672* probably null Het
Tmem59l T C 8: 70,938,369 (GRCm39) T168A probably damaging Het
Tshz2 A G 2: 169,804,245 (GRCm39) probably benign Het
Vmn1r9 T C 6: 57,048,306 (GRCm39) F127S probably damaging Het
Zfp282 G A 6: 47,857,028 (GRCm39) R87H probably damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Zscan22 C T 7: 12,640,941 (GRCm39) T395I probably damaging Het
Other mutations in Mrps24
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0791:Mrps24 UTSW 11 5,654,684 (GRCm39) missense possibly damaging 0.72
R4060:Mrps24 UTSW 11 5,654,676 (GRCm39) nonsense probably null
R4062:Mrps24 UTSW 11 5,654,676 (GRCm39) nonsense probably null
R5963:Mrps24 UTSW 11 5,657,481 (GRCm39) splice site probably benign
R6598:Mrps24 UTSW 11 5,654,713 (GRCm39) missense probably benign 0.00
R6974:Mrps24 UTSW 11 5,654,663 (GRCm39) missense probably benign 0.00
R7984:Mrps24 UTSW 11 5,657,495 (GRCm39) missense possibly damaging 0.63
R8855:Mrps24 UTSW 11 5,654,642 (GRCm39) missense probably damaging 1.00
Z1176:Mrps24 UTSW 11 5,654,538 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GTACTTGTACACGACCTTGGAGG -3'
(R):5'- CCCTGCGCTTTGGATTTTAG -3'

Sequencing Primer
(F):5'- AGTCGCACAGGACACTTG -3'
(R):5'- AGAATGTTTTCCTATTCCGTTAGCG -3'
Posted On 2015-05-15