Incidental Mutation 'IGL02049:Rps24'
ID 185018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps24
Ensembl Gene ENSMUSG00000025290
Gene Name ribosomal protein S24
Synonyms MRP S24
Accession Numbers
Essential gene? Probably essential (E-score: 0.840) question?
Stock # IGL02049
Quality Score
Status
Chromosome 14
Chromosomal Location 24540746-24547028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 24541823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 3 (D3E)
Ref Sequence ENSEMBL: ENSMUSP00000152944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026322] [ENSMUST00000112384] [ENSMUST00000169826] [ENSMUST00000223718] [ENSMUST00000223999] [ENSMUST00000224568] [ENSMUST00000225023]
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 benign
Transcript: ENSMUST00000112384
AA Change: D3E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108003
Gene: ENSMUSG00000025290
AA Change: D3E

DomainStartEndE-ValueType
Pfam:Ribosomal_S24e 23 108 4.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169826
AA Change: D3E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125977
Gene: ENSMUSG00000025290
AA Change: D3E

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 benign
Transcript: ENSMUST00000223999
AA Change: D3E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224699
Predicted Effect probably benign
Transcript: ENSMUST00000224568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225117
Predicted Effect probably benign
Transcript: ENSMUST00000225023
AA Change: D3E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225014
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,254,801 (GRCm39) R27S probably benign Het
4930596D02Rik C A 14: 35,533,535 (GRCm39) V78L probably benign Het
Abca3 T A 17: 24,595,704 (GRCm39) C352* probably null Het
Acat3 T A 17: 13,144,207 (GRCm39) Y324F probably benign Het
Adamts8 T C 9: 30,862,650 (GRCm39) V285A probably damaging Het
Anpep A G 7: 79,484,929 (GRCm39) I652T probably damaging Het
Arhgef6 T A X: 56,321,271 (GRCm39) Q320L probably damaging Het
Armh1 A T 4: 117,094,860 (GRCm39) I60K probably benign Het
Atp11b T C 3: 35,854,642 (GRCm39) V145A probably damaging Het
Cacna1c T C 6: 118,580,880 (GRCm39) T1674A probably benign Het
Capn2 A T 1: 182,301,519 (GRCm39) probably benign Het
Cfd A G 10: 79,726,776 (GRCm39) Y6C probably benign Het
Cps1 A G 1: 67,183,113 (GRCm39) K157R possibly damaging Het
Csmd3 T A 15: 47,864,870 (GRCm39) R786S possibly damaging Het
Dna2 A T 10: 62,792,815 (GRCm39) I277L probably damaging Het
Gm5168 A T X: 25,999,005 (GRCm39) D50E probably damaging Het
Grik4 T A 9: 42,455,049 (GRCm39) probably benign Het
Ift56 A G 6: 38,402,067 (GRCm39) T520A probably benign Het
Iqgap2 A G 13: 95,811,913 (GRCm39) probably benign Het
Klk10 A T 7: 43,433,882 (GRCm39) probably benign Het
Kng1 A G 16: 22,892,187 (GRCm39) Y250C probably damaging Het
Las1l A T X: 94,981,059 (GRCm39) M690K probably benign Het
Mug1 T A 6: 121,848,295 (GRCm39) M673K probably benign Het
Myh9 T C 15: 77,654,070 (GRCm39) H1245R probably benign Het
Oprk1 C T 1: 5,669,067 (GRCm39) T171I probably damaging Het
Pgm5 A T 19: 24,801,782 (GRCm39) S149T probably benign Het
Pla2g4a T C 1: 149,736,847 (GRCm39) N424S probably benign Het
Plec A T 15: 76,063,149 (GRCm39) L2334Q probably damaging Het
Pus7l G A 15: 94,438,059 (GRCm39) S262F probably damaging Het
Rxfp1 T C 3: 79,557,799 (GRCm39) N560D probably damaging Het
Sema3c C T 5: 17,926,923 (GRCm39) probably benign Het
Slc47a2 A G 11: 61,233,365 (GRCm39) F55S probably damaging Het
Slco1a6 A G 6: 142,047,309 (GRCm39) probably benign Het
Taf4b A T 18: 14,963,196 (GRCm39) E645D probably benign Het
Tmem161a T A 8: 70,631,624 (GRCm39) V158E probably damaging Het
Trav13-2 A G 14: 53,872,604 (GRCm39) S27G possibly damaging Het
Trav13-2 G T 14: 53,872,603 (GRCm39) Q26H probably damaging Het
Trav13-2 A T 14: 53,872,602 (GRCm39) Q26L possibly damaging Het
Vmn2r108 T A 17: 20,691,608 (GRCm39) H305L probably benign Het
Zfp263 A G 16: 3,562,482 (GRCm39) I82V probably damaging Het
Other mutations in Rps24
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1429: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
Posted On 2014-05-07