Incidental Mutation 'R4060:Mrps24'
ID 315824
Institutional Source Beutler Lab
Gene Symbol Mrps24
Ensembl Gene ENSMUSG00000020477
Gene Name mitochondrial ribosomal protein S24
Synonyms 3110030K20Rik, Rpms24
MMRRC Submission 041618-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R4060 (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: 95.7%
Validation Efficiency 95% (41/43)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A T 1: 53,197,928 (GRCm39) L140Q probably damaging Het
Abca8b A T 11: 109,848,027 (GRCm39) M756K probably benign Het
Cd44 T C 2: 102,731,687 (GRCm39) D2G probably damaging Het
Cdan1 T C 2: 120,556,224 (GRCm39) I681V probably benign Het
Cdc5l C T 17: 45,721,816 (GRCm39) A485T probably benign Het
Cfh T C 1: 140,047,664 (GRCm39) I488M possibly damaging Het
Cntn2 T A 1: 132,453,634 (GRCm39) L346F probably damaging Het
Creb3l2 T C 6: 37,311,484 (GRCm39) H435R probably benign Het
Dmbt1 A G 7: 130,675,932 (GRCm39) probably benign Het
Fam162a C T 16: 35,864,451 (GRCm39) R38K probably benign Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Foxo1 A G 3: 52,252,583 (GRCm39) R249G probably damaging Het
Grm6 A G 11: 50,744,051 (GRCm39) E174G probably damaging Het
Gtpbp2 G A 17: 46,478,253 (GRCm39) R467H probably damaging Het
Hypk A G 2: 121,284,160 (GRCm39) probably benign Het
Ifih1 T C 2: 62,429,143 (GRCm39) T932A possibly damaging Het
Igfbp1 C A 11: 7,148,091 (GRCm39) P45T probably damaging Het
Ik A G 18: 36,881,943 (GRCm39) K142E probably damaging Het
Ltbp3 T C 19: 5,792,348 (GRCm39) L27P probably benign Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Or13a20 T C 7: 140,232,033 (GRCm39) I47T probably damaging Het
Or1j14 A G 2: 36,417,426 (GRCm39) M1V probably null Het
Or7g19 T C 9: 18,856,346 (GRCm39) V134A probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Pcdhb20 A G 18: 37,639,217 (GRCm39) E581G probably damaging Het
Rnf146 T C 10: 29,223,363 (GRCm39) I174M probably damaging Het
Serpinb9g G A 13: 33,679,089 (GRCm39) V320I probably benign Het
Sh3pxd2b G T 11: 32,372,263 (GRCm39) A477S probably benign Het
Slc23a3 T G 1: 75,109,964 (GRCm39) probably benign Het
Ssrp1 T G 2: 84,871,978 (GRCm39) Y401D probably damaging Het
Tas2r109 A T 6: 132,957,148 (GRCm39) W261R probably damaging Het
Tas2r144 T C 6: 42,192,563 (GRCm39) V101A possibly damaging Het
Tead1 T A 7: 112,475,269 (GRCm39) probably null Het
Tiam2 A G 17: 3,479,255 (GRCm39) S663G probably benign Het
Trbv20 T G 6: 41,165,195 (GRCm39) probably benign Het
Tspan9 T C 6: 128,011,135 (GRCm39) I19M probably benign Het
Ttbk2 T A 2: 120,579,465 (GRCm39) E552D probably benign Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Other mutations in Mrps24
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0791:Mrps24 UTSW 11 5,654,684 (GRCm39) missense possibly damaging 0.72
R4062:Mrps24 UTSW 11 5,654,676 (GRCm39) nonsense probably null
R4064: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'- ATCCCTGCGCTTTGGATTTTAG -3'

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