Incidental Mutation 'R5963:Mrps24'
ID 471890
Institutional Source Beutler Lab
Gene Symbol Mrps24
Ensembl Gene ENSMUSG00000020477
Gene Name mitochondrial ribosomal protein S24
Synonyms 3110030K20Rik, Rpms24
MMRRC Submission 044148-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R5963 (G1)
Quality Score 80.5
Status Validated
Chromosome 11
Chromosomal Location 5653982-5657701 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 5657481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000154330
SMART Domains Protein: ENSMUSP00000119535
Gene: ENSMUSG00000020477

DomainStartEndE-ValueType
Pfam:MRP-S24 36 167 1.1e-61 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.5%
Validation Efficiency 99% (68/69)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg8 A G 7: 97,029,037 (GRCm39) K131E probably benign Het
Ank3 T A 10: 69,823,056 (GRCm39) L575* probably null Het
Aqr T C 2: 113,957,442 (GRCm39) T819A probably damaging Het
Bbs2 A T 8: 94,807,659 (GRCm39) S407T probably benign Het
Bmper T A 9: 23,286,889 (GRCm39) C272S probably benign Het
Btbd9 C T 17: 30,553,192 (GRCm39) probably null Het
C5ar1 A G 7: 15,982,747 (GRCm39) V91A possibly damaging Het
Ccdc138 A G 10: 58,411,579 (GRCm39) H649R possibly damaging Het
Cfap43 A T 19: 47,734,013 (GRCm39) V1451E probably benign Het
Cfap46 T A 7: 139,231,511 (GRCm39) M901L probably damaging Het
Cherp G T 8: 73,215,379 (GRCm39) probably benign Het
D430041D05Rik C T 2: 104,078,630 (GRCm39) V1229I possibly damaging Het
Fat4 A C 3: 39,064,696 (GRCm39) D4884A probably damaging Het
Fcrl5 T C 3: 87,351,480 (GRCm39) F243L probably damaging Het
Garem1 T A 18: 21,262,487 (GRCm39) I776F probably benign Het
Gpr87 T A 3: 59,086,690 (GRCm39) R272* probably null Het
Gsdmc A T 15: 63,651,965 (GRCm39) probably null Het
Hydin T A 8: 111,220,926 (GRCm39) F1441I possibly damaging Het
Ints11 T A 4: 155,957,369 (GRCm39) C63* probably null Het
Kdm4b A T 17: 56,706,732 (GRCm39) T908S probably damaging Het
Lipn A G 19: 34,058,700 (GRCm39) D304G probably damaging Het
Man2a1 T G 17: 64,982,117 (GRCm39) N544K probably benign Het
Mapkapk5 G T 5: 121,676,544 (GRCm39) H66N probably damaging Het
Mog G A 17: 37,323,240 (GRCm39) R233* probably null Het
Nom1 T C 5: 29,642,768 (GRCm39) L423P probably damaging Het
Or51b6 T A 7: 103,556,168 (GRCm39) V174E probably benign Het
Pcdha1 T A 18: 37,064,224 (GRCm39) V296E probably damaging Het
Pdcd2 T C 17: 15,746,656 (GRCm39) K168E possibly damaging Het
Pdcd2 G T 17: 15,746,657 (GRCm39) H167Q probably damaging Het
Pla2g12b T A 10: 59,239,780 (GRCm39) V63D probably damaging Het
Pnn C T 12: 59,114,617 (GRCm39) R56* probably null Het
Primpol T A 8: 47,046,615 (GRCm39) E227V possibly damaging Het
Rad54l A T 4: 115,967,584 (GRCm39) W233R probably damaging Het
Rims2 A T 15: 39,300,578 (GRCm39) D103V probably damaging Het
Rttn T C 18: 89,091,819 (GRCm39) S1511P probably benign Het
Septin5 T C 16: 18,442,962 (GRCm39) probably null Het
Simc1 T A 13: 54,673,632 (GRCm39) I660K possibly damaging Het
Slc15a5 A G 6: 138,056,691 (GRCm39) L75P probably damaging Het
Slc9a2 A G 1: 40,721,196 (GRCm39) S55G possibly damaging Het
Slit3 C T 11: 35,591,063 (GRCm39) R1292C probably damaging Het
Slitrk3 A G 3: 72,958,046 (GRCm39) V242A probably benign Het
St14 A T 9: 31,017,853 (GRCm39) probably benign Het
Tnnt2 T C 1: 135,771,600 (GRCm39) probably benign Het
Traf5 G A 1: 191,731,977 (GRCm39) T288I probably benign Het
Trerf1 C T 17: 47,625,263 (GRCm39) noncoding transcript Het
Vegfc A G 8: 54,634,319 (GRCm39) N333D probably benign Het
Vmn1r65 T A 7: 6,011,608 (GRCm39) I209F probably damaging Het
Vps51 A G 19: 6,118,320 (GRCm39) L725P probably damaging Het
Vps8 T C 16: 21,288,871 (GRCm39) I408T possibly damaging Het
Wdr72 T C 9: 74,052,310 (GRCm39) Y114H probably damaging Het
Ybx2 A G 11: 69,831,918 (GRCm39) E164G probably damaging Het
Zcchc14 A T 8: 122,355,362 (GRCm39) probably benign Het
Zfp383 A G 7: 29,615,103 (GRCm39) T453A possibly damaging Het
Zfp84 G T 7: 29,476,378 (GRCm39) G357C probably damaging Het
Zmynd11 G T 13: 9,745,931 (GRCm39) probably benign 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
R4064:Mrps24 UTSW 11 5,654,676 (GRCm39) nonsense probably null
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'- ACGTTCAAGAGTGACCCGTG -3'
(R):5'- CCGTTAGTTCCTGCTCTGAG -3'

Sequencing Primer
(F):5'- TCACCTGTGTGCAGCGACAG -3'
(R):5'- CAAGATGGCGTGGTCCG -3'
Posted On 2017-03-31