Incidental Mutation 'R1429:Rps24'
ID 161454
Institutional Source Beutler Lab
Gene Symbol Rps24
Ensembl Gene ENSMUSG00000025290
Gene Name ribosomal protein S24
Synonyms MRP S24
MMRRC Submission 039485-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.826) question?
Stock # R1429 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 24540746-24547028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24541830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 6 (T6A)
Ref Sequence ENSEMBL: ENSMUSP00000152944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026322] [ENSMUST00000112384] [ENSMUST00000169826] [ENSMUST00000223718] [ENSMUST00000223999] [ENSMUST00000225023] [ENSMUST00000224568]
AlphaFold P62849
Predicted Effect probably benign
Transcript: ENSMUST00000026322
SMART Domains Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280

DomainStartEndE-ValueType
Blast:RPOLA_N 122 218 5e-43 BLAST
RPOLA_N 248 553 1.09e-176 SMART
Pfam:RNA_pol_Rpb1_4 728 834 4e-35 PFAM
Pfam:RNA_pol_Rpb1_5 841 1318 1.2e-92 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112384
AA Change: T6A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108003
Gene: ENSMUSG00000025290
AA Change: T6A

DomainStartEndE-ValueType
Pfam:Ribosomal_S24e 23 108 4.4e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169826
AA Change: T6A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125977
Gene: ENSMUSG00000025290
AA Change: T6A

DomainStartEndE-ValueType
Pfam:Ribosomal_S24e 24 102 1.9e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223939
Predicted Effect probably damaging
Transcript: ENSMUST00000223999
AA Change: T6A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000225023
AA Change: T6A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225117
Predicted Effect probably benign
Transcript: ENSMUST00000224568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224549
Meta Mutation Damage Score 0.2687 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Alg8 C T 7: 97,039,499 (GRCm39) A410V probably benign Het
Arhgef4 A G 1: 34,849,420 (GRCm39) Y481C probably damaging Het
Armc8 A G 9: 99,418,260 (GRCm39) V56A possibly damaging Het
Cactin T C 10: 81,159,512 (GRCm39) I23T probably damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cfap54 T C 10: 92,656,900 (GRCm39) I3051V probably benign Het
Cpxm1 A T 2: 130,238,364 (GRCm39) I66N probably damaging Het
Ddx50 G A 10: 62,482,847 (GRCm39) T74I possibly damaging Het
Dnah7b G T 1: 46,328,816 (GRCm39) D3183Y possibly damaging Het
Dsg1b A G 18: 20,523,252 (GRCm39) D93G probably damaging Het
Ess2 G A 16: 17,720,069 (GRCm39) R427* probably null Het
Fam135a T G 1: 24,083,348 (GRCm39) K292N probably damaging Het
Fam83b G T 9: 76,399,859 (GRCm39) R415S probably benign Het
Fxyd3 T A 7: 30,773,046 (GRCm39) M1L probably benign Het
Gm5134 T A 10: 75,814,215 (GRCm39) M193K probably damaging Het
Golgb1 A G 16: 36,720,925 (GRCm39) E427G possibly damaging Het
Gpat3 G A 5: 101,040,953 (GRCm39) G338S probably damaging Het
Hmgxb3 C T 18: 61,283,505 (GRCm39) R606Q probably damaging Het
Itgb1 T C 8: 129,444,157 (GRCm39) probably null Het
Myh1 C A 11: 67,108,736 (GRCm39) T1384K possibly damaging Het
Myo3b A C 2: 70,083,351 (GRCm39) Q640P probably damaging Het
Naa16 A G 14: 79,596,967 (GRCm39) V305A probably benign Het
Or5h17 G A 16: 58,820,501 (GRCm39) G151D possibly damaging Het
Pgap1 T C 1: 54,534,020 (GRCm39) D631G probably benign Het
Phc2 C A 4: 128,637,348 (GRCm39) P51Q probably damaging Het
Pmel G A 10: 128,554,861 (GRCm39) probably null Het
Rassf8 G T 6: 145,760,916 (GRCm39) G81W probably damaging Het
Rfx2 G T 17: 57,111,369 (GRCm39) Q68K probably damaging Het
Rsbn1l A G 5: 21,125,016 (GRCm39) L262S probably damaging Het
S100a16 A C 3: 90,449,391 (GRCm39) Y22S probably damaging Het
Stx19 G A 16: 62,642,960 (GRCm39) V259I possibly damaging Het
Tas2r105 T C 6: 131,663,904 (GRCm39) I175V probably benign Het
Vmn2r67 T A 7: 84,802,031 (GRCm39) H90L possibly damaging Het
Wscd1 T A 11: 71,651,000 (GRCm39) L109Q probably damaging Het
Zfp423 T A 8: 88,413,070 (GRCm39) Q1154L probably damaging Het
Zmym6 T C 4: 127,017,672 (GRCm39) L1059P probably damaging Het
Other mutations in Rps24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02049:Rps24 APN 14 24,541,823 (GRCm39) missense probably benign
R1209:Rps24 UTSW 14 24,541,830 (GRCm39) missense probably damaging 1.00
R1317:Rps24 UTSW 14 24,541,830 (GRCm39) missense probably damaging 1.00
R1363:Rps24 UTSW 14 24,541,830 (GRCm39) missense probably damaging 1.00
R1365:Rps24 UTSW 14 24,541,830 (GRCm39) missense probably damaging 1.00
R1393:Rps24 UTSW 14 24,541,830 (GRCm39) missense probably damaging 1.00
R1427:Rps24 UTSW 14 24,541,830 (GRCm39) missense probably damaging 1.00
R1771:Rps24 UTSW 14 24,541,830 (GRCm39) missense probably damaging 1.00
R1776:Rps24 UTSW 14 24,541,830 (GRCm39) missense probably damaging 1.00
R2916:Rps24 UTSW 14 24,542,009 (GRCm39) missense probably benign 0.02
R4837:Rps24 UTSW 14 24,541,855 (GRCm39) missense possibly damaging 0.93
R6146:Rps24 UTSW 14 24,540,803 (GRCm39) start gained probably null
R6249:Rps24 UTSW 14 24,543,530 (GRCm39) missense possibly damaging 0.92
R6386:Rps24 UTSW 14 24,542,116 (GRCm39) missense possibly damaging 0.79
R7316:Rps24 UTSW 14 24,540,757 (GRCm39) unclassified probably benign
R8402:Rps24 UTSW 14 24,540,829 (GRCm39) splice site probably benign
V7732:Rps24 UTSW 14 24,541,830 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCTCGCTGAATGCCAGCTAC -3'
(R):5'- CCCAGGATGAAGGACATCAATGACC -3'

Sequencing Primer
(F):5'- TCTCCAAGCACTAGAGGCATTG -3'
(R):5'- TGACCTATAAAGAGGTGTAAGAGTC -3'
Posted On 2014-03-14