Incidental Mutation 'IGL03296:Rsl24d1'
ID 416097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsl24d1
Ensembl Gene ENSMUSG00000032215
Gene Name ribosomal L24 domain containing 1
Synonyms 2410159K22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # IGL03296
Quality Score
Status
Chromosome 9
Chromosomal Location 73020751-73030615 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 73025229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034738] [ENSMUST00000113505] [ENSMUST00000165177] [ENSMUST00000169399] [ENSMUST00000174203]
AlphaFold Q99L28
Predicted Effect probably null
Transcript: ENSMUST00000034738
SMART Domains Protein: ENSMUSP00000034738
Gene: ENSMUSG00000032215

DomainStartEndE-ValueType
TRASH 6 44 1.62e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113505
Predicted Effect probably null
Transcript: ENSMUST00000165177
SMART Domains Protein: ENSMUSP00000126553
Gene: ENSMUSG00000032215

DomainStartEndE-ValueType
Pfam:Ribosomal_L24e 18 67 1.9e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000169399
Predicted Effect probably benign
Transcript: ENSMUST00000174203
SMART Domains Protein: ENSMUSP00000134473
Gene: ENSMUSG00000092310

DomainStartEndE-ValueType
internal_repeat_1 116 173 5.47e-9 PROSPERO
internal_repeat_1 177 233 5.47e-9 PROSPERO
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene has been referred to as RPL24, L30, and 60S ribosomal protein L30 isolog in the sequence databases, it is distinct from the human genes officially named RPL24 (which itself has been referred to as ribosomal protein L30) and RPL30. The protein encoded by this gene localizes to the nucleolus and is thought to play a role in the biogenesis of the 60S ribosomal subunit. The precise function of this gene is currently unknown. This gene utilizes alternative polyadenylation signals and has multiple pseudogenes. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 T C 17: 43,632,044 (GRCm39) probably benign Het
Arhgef26 A G 3: 62,330,926 (GRCm39) T547A probably damaging Het
Cdc14a T A 3: 116,090,807 (GRCm39) H375L probably benign Het
Ddx43 T C 9: 78,306,380 (GRCm39) probably null Het
Dennd6a T C 14: 26,338,115 (GRCm39) probably null Het
Dock4 A T 12: 40,783,256 (GRCm39) E730V possibly damaging Het
Gpr55 A G 1: 85,868,753 (GRCm39) L276S probably damaging Het
Grid1 T C 14: 35,302,524 (GRCm39) F930L possibly damaging Het
Inf2 C T 12: 112,570,642 (GRCm39) Q394* probably null Het
Ints11 T C 4: 155,969,780 (GRCm39) probably null Het
Kcnd2 T C 6: 21,714,208 (GRCm39) V397A probably damaging Het
Lmntd1 A G 6: 145,359,203 (GRCm39) F316L probably benign Het
Loxl4 A T 19: 42,587,262 (GRCm39) probably benign Het
Lrrc37a C T 11: 103,388,499 (GRCm39) E2309K unknown Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mindy4 T C 6: 55,274,738 (GRCm39) probably null Het
Mybpc2 A T 7: 44,156,308 (GRCm39) I835N probably damaging Het
Myo5a T C 9: 75,023,484 (GRCm39) I15T probably damaging Het
Nfkb2 A T 19: 46,298,367 (GRCm39) D557V probably damaging Het
Or11g27 A T 14: 50,771,402 (GRCm39) I178L possibly damaging Het
Pdk3 T C X: 92,875,503 (GRCm39) Y19C probably damaging Het
Pdpr G T 8: 111,841,430 (GRCm39) V221F probably damaging Het
Rab6a T C 7: 100,283,931 (GRCm39) Y128H probably benign Het
Rars1 A T 11: 35,707,523 (GRCm39) Y429* probably null Het
Slc7a9 T C 7: 35,151,852 (GRCm39) F49S probably damaging Het
St14 C T 9: 31,020,008 (GRCm39) E34K probably damaging Het
Tcp10b A G 17: 13,292,443 (GRCm39) T289A probably damaging Het
Tenm2 T C 11: 35,942,852 (GRCm39) probably null Het
Tshz3 A T 7: 36,470,761 (GRCm39) T917S probably damaging Het
Vrtn T A 12: 84,695,622 (GRCm39) I124N probably damaging Het
Vwa8 A G 14: 79,420,540 (GRCm39) E1747G probably damaging Het
Wdr33 A T 18: 31,960,444 (GRCm39) Q36L probably benign Het
Xpo5 C T 17: 46,532,320 (GRCm39) R452* probably null Het
Zdhhc8 A T 16: 18,044,587 (GRCm39) L311Q possibly damaging Het
Other mutations in Rsl24d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1953:Rsl24d1 UTSW 9 73,021,896 (GRCm39) intron probably benign
R2909:Rsl24d1 UTSW 9 73,029,585 (GRCm39) missense probably damaging 0.97
R5320:Rsl24d1 UTSW 9 73,023,698 (GRCm39) missense possibly damaging 0.47
R6602:Rsl24d1 UTSW 9 73,020,792 (GRCm39) missense possibly damaging 0.86
R6701:Rsl24d1 UTSW 9 73,022,279 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02