Incidental Mutation 'R6701:Rsl24d1'
ID 528755
Institutional Source Beutler Lab
Gene Symbol Rsl24d1
Ensembl Gene ENSMUSG00000032215
Gene Name ribosomal L24 domain containing 1
Synonyms 2410159K22Rik
MMRRC Submission 044819-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R6701 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 73020751-73030615 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 73022279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 287 (T287K)
Ref Sequence ENSEMBL: ENSMUSP00000134473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034738] [ENSMUST00000113505] [ENSMUST00000165177] [ENSMUST00000169399] [ENSMUST00000174203]
AlphaFold Q99L28
Predicted Effect probably damaging
Transcript: ENSMUST00000034738
AA Change: T64K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034738
Gene: ENSMUSG00000032215
AA Change: T64K

DomainStartEndE-ValueType
TRASH 6 44 1.62e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113505
Predicted Effect probably damaging
Transcript: ENSMUST00000165177
AA Change: T65K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126553
Gene: ENSMUSG00000032215
AA Change: T65K

DomainStartEndE-ValueType
Pfam:Ribosomal_L24e 18 67 1.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169399
Predicted Effect probably damaging
Transcript: ENSMUST00000174203
AA Change: T287K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134473
Gene: ENSMUSG00000092310
AA Change: T287K

DomainStartEndE-ValueType
internal_repeat_1 116 173 5.47e-9 PROSPERO
internal_repeat_1 177 233 5.47e-9 PROSPERO
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 96.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 A T 10: 4,305,243 (GRCm39) K684N probably damaging Het
Akna C T 4: 63,313,517 (GRCm39) G202D probably benign Het
Alpk1 T A 3: 127,522,985 (GRCm39) D19V probably damaging Het
Arid4a A T 12: 71,134,286 (GRCm39) K1196I probably damaging Het
Asic3 A T 5: 24,619,127 (GRCm39) M140L possibly damaging Het
Bfsp2 C T 9: 103,357,077 (GRCm39) V117M possibly damaging Het
Bltp3a T A 17: 28,106,331 (GRCm39) C952* probably null Het
Cd244a C A 1: 171,401,723 (GRCm39) L150M possibly damaging Het
Cd3e T C 9: 44,912,351 (GRCm39) Y131C probably damaging Het
Clptm1l T C 13: 73,757,025 (GRCm39) I202T probably benign Het
Cnot4 G T 6: 35,045,539 (GRCm39) T224K probably damaging Het
Col24a1 A G 3: 145,020,141 (GRCm39) T171A probably benign Het
Col6a3 C T 1: 90,720,184 (GRCm39) R1552Q probably benign Het
Dcc T A 18: 71,942,191 (GRCm39) T309S probably benign Het
Ddx21 T C 10: 62,426,470 (GRCm39) Y461C probably damaging Het
Dnah10 G A 5: 124,837,223 (GRCm39) V989M probably benign Het
Dppa4 A T 16: 48,111,674 (GRCm39) K220* probably null Het
Dysf G A 6: 84,089,172 (GRCm39) G912S probably damaging Het
Efhb A T 17: 53,706,091 (GRCm39) N815K probably benign Het
Eml6 T A 11: 29,735,748 (GRCm39) L1139F probably damaging Het
Eprs1 T G 1: 185,103,087 (GRCm39) I78S probably damaging Het
Fat1 C A 8: 45,403,718 (GRCm39) S156R probably damaging Het
Firrm T C 1: 163,799,412 (GRCm39) probably null Het
Frzb G A 2: 80,277,163 (GRCm39) R8W possibly damaging Het
Guf1 T A 5: 69,715,596 (GRCm39) D47E probably damaging Het
Haus3 A T 5: 34,325,078 (GRCm39) F194I probably damaging Het
Hivep3 C T 4: 119,951,737 (GRCm39) R18W probably damaging Het
Hnf1b A G 11: 83,779,920 (GRCm39) T392A probably damaging Het
Hsd17b1 C A 11: 100,970,981 (GRCm39) C312* probably null Het
Ighg2b T C 12: 113,270,699 (GRCm39) T144A unknown Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Irag2 G T 6: 145,090,702 (GRCm39) E61* probably null Het
Jhy T C 9: 40,828,887 (GRCm39) R340G probably damaging Het
Klra3 C G 6: 130,307,216 (GRCm39) V144L probably benign Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Lrrc4 A G 6: 28,830,905 (GRCm39) F237L possibly damaging Het
Lyst T A 13: 13,856,070 (GRCm39) C2464S probably benign Het
Maml1 T C 11: 50,157,509 (GRCm39) E222G probably damaging Het
Med15 C T 16: 17,489,447 (GRCm39) probably benign Het
Naalad2 T C 9: 18,296,444 (GRCm39) I69V probably null Het
Neb T C 2: 52,181,220 (GRCm39) K1129R probably damaging Het
Nsun6 A T 2: 15,041,113 (GRCm39) N159K probably benign Het
Nup153 A T 13: 46,840,541 (GRCm39) N1022K probably benign Het
Or1e29 T C 11: 73,667,296 (GRCm39) N286D probably damaging Het
Or5g9 A G 2: 85,552,675 (GRCm39) K309E probably benign Het
Or5w15 C T 2: 87,567,753 (GRCm39) R305K probably benign Het
Otof T A 5: 30,528,141 (GRCm39) K1901* probably null Het
Pde1c A T 6: 56,158,685 (GRCm39) Y136N probably damaging Het
Phc1 G T 6: 122,302,733 (GRCm39) N263K probably damaging Het
Plxna1 A T 6: 89,296,430 (GRCm39) D1871E probably damaging Het
Prdm6 T A 18: 53,669,751 (GRCm39) M123K possibly damaging Het
Ranbp17 T C 11: 33,425,066 (GRCm39) D430G probably damaging Het
Scn1a G A 2: 66,168,304 (GRCm39) R101W probably damaging Het
Scn8a A G 15: 100,937,977 (GRCm39) D1741G probably damaging Het
Serpinb1c T C 13: 33,080,924 (GRCm39) Q53R probably benign Het
Serpinf2 C T 11: 75,323,269 (GRCm39) R479H probably damaging Het
Sis T A 3: 72,856,860 (GRCm39) D448V probably damaging Het
Slc27a6 T A 18: 58,712,947 (GRCm39) D256E probably benign Het
Slc30a8 A G 15: 52,194,970 (GRCm39) Y243C possibly damaging Het
Slc35f5 T C 1: 125,490,347 (GRCm39) V103A probably damaging Het
Slc44a2 T C 9: 21,232,149 (GRCm39) probably null Het
Slc7a9 T C 7: 35,159,274 (GRCm39) L327P probably damaging Het
Stat4 A G 1: 52,142,133 (GRCm39) Y660C probably damaging Het
Terb1 T C 8: 105,199,388 (GRCm39) T519A possibly damaging Het
Tonsl A T 15: 76,513,500 (GRCm39) S1245T probably damaging Het
Ttn A T 2: 76,619,162 (GRCm39) S16072R probably damaging Het
Ttn A T 2: 76,739,590 (GRCm39) Y3650N probably benign Het
Uso1 T C 5: 92,314,444 (GRCm39) F117S probably damaging Het
Vmn1r211 T C 13: 23,035,779 (GRCm39) H296R probably benign Het
Vmn2r67 G A 7: 84,802,023 (GRCm39) P93S probably damaging Het
Xirp2 A T 2: 67,346,569 (GRCm39) I2937F possibly damaging Het
Zc2hc1c C A 12: 85,336,446 (GRCm39) probably null Het
Zfp12 T C 5: 143,230,219 (GRCm39) V182A probably benign Het
Zfp473 G T 7: 44,382,218 (GRCm39) A705D possibly damaging Het
Zfp937 G T 2: 150,081,136 (GRCm39) G389C probably damaging Het
Zfp990 A G 4: 145,264,748 (GRCm39) D582G probably benign Het
Other mutations in Rsl24d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03296:Rsl24d1 APN 9 73,025,229 (GRCm39) critical splice donor site probably null
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
Predicted Primers PCR Primer
(F):5'- GATGATGTCGGACACCCATC -3'
(R):5'- GCCCTGAAAGTCCAAGTTCC -3'

Sequencing Primer
(F):5'- CTGATGTCGCATGTGATTCTAG -3'
(R):5'- TGAAAGTCCAAGTTCCCACTTC -3'
Posted On 2018-07-24