Incidental Mutation 'IGL01305:Rpl21'
ID 73422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl21
Ensembl Gene ENSMUSG00000041453
Gene Name ribosomal protein L21
Synonyms 8430440E03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # IGL01305
Quality Score
Status
Chromosome 5
Chromosomal Location 146769955-146773842 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 146770996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035983] [ENSMUST00000075453] [ENSMUST00000099272]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035983
SMART Domains Protein: ENSMUSP00000041652
Gene: ENSMUSG00000041453

DomainStartEndE-ValueType
Pfam:Ribosomal_L21e 3 99 9.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075453
SMART Domains Protein: ENSMUSP00000106213
Gene: ENSMUSG00000041453

DomainStartEndE-ValueType
Pfam:Ribosomal_L21e 3 99 9.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099272
SMART Domains Protein: ENSMUSP00000106211
Gene: ENSMUSG00000041453

DomainStartEndE-ValueType
Pfam:Ribosomal_L21e 2 100 3.6e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000103997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154768
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 60S subunit. The protein belongs to the L21E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,797,915 (GRCm39) E663G possibly damaging Het
Adam29 T A 8: 56,324,879 (GRCm39) H525L probably benign Het
Adamts6 T A 13: 104,526,590 (GRCm39) V506E probably damaging Het
Ankfy1 G A 11: 72,655,617 (GRCm39) E1101K probably damaging Het
Arap3 C T 18: 38,124,380 (GRCm39) probably null Het
Asxl3 T A 18: 22,649,503 (GRCm39) H497Q probably benign Het
Caln1 A G 5: 130,698,392 (GRCm39) E96G probably damaging Het
Cdh23 T C 10: 60,148,403 (GRCm39) T2653A probably damaging Het
Cdk5rap2 T A 4: 70,298,472 (GRCm39) I87F possibly damaging Het
Chi3l1 A G 1: 134,110,554 (GRCm39) probably benign Het
Col27a1 A G 4: 63,218,978 (GRCm39) probably benign Het
Crybg3 T A 16: 59,349,590 (GRCm39) H934L probably damaging Het
Cyp2d22 G A 15: 82,255,869 (GRCm39) T461I probably damaging Het
Dhcr24 T C 4: 106,429,475 (GRCm39) F183L possibly damaging Het
Dnajc13 T C 9: 104,107,836 (GRCm39) probably null Het
Dusp16 A T 6: 134,695,824 (GRCm39) S336T probably benign Het
F930017D23Rik T G 10: 43,480,371 (GRCm39) noncoding transcript Het
Fasl A G 1: 161,609,407 (GRCm39) V193A probably damaging Het
Fgf5 T C 5: 98,423,175 (GRCm39) Y187H probably damaging Het
Focad C A 4: 88,311,784 (GRCm39) Q1423K probably benign Het
Gabrp T C 11: 33,505,055 (GRCm39) T249A probably damaging Het
Galnt5 A T 2: 57,915,354 (GRCm39) K637* probably null Het
Gm20479 G A 7: 27,056,812 (GRCm39) R2525* probably null Het
Grm6 A T 11: 50,750,346 (GRCm39) D503V probably benign Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Lyst C T 13: 13,852,641 (GRCm39) R2214C probably benign Het
Micu2 T A 14: 58,181,082 (GRCm39) D184V probably damaging Het
Nabp2 T A 10: 128,244,631 (GRCm39) I52F probably damaging Het
Nat8f7 A T 6: 85,684,570 (GRCm39) L90* probably null Het
Or2z2 A T 11: 58,346,088 (GRCm39) M229K probably damaging Het
Or4k47 T C 2: 111,451,546 (GRCm39) N291S probably damaging Het
Pphln1 A G 15: 93,386,985 (GRCm39) E273G probably damaging Het
Ppil1 C A 17: 29,482,862 (GRCm39) V14F possibly damaging Het
Relt A T 7: 100,500,905 (GRCm39) L28Q probably damaging Het
Rrp36 A T 17: 46,979,017 (GRCm39) probably benign Het
Skic8 C A 9: 54,635,470 (GRCm39) V44L probably damaging Het
St8sia5 G A 18: 77,342,358 (GRCm39) G320D probably damaging Het
Taf2 T C 15: 54,911,670 (GRCm39) E582G probably damaging Het
Tas2r116 T A 6: 132,832,406 (GRCm39) N2K probably benign Het
Tmem168 A T 6: 13,583,045 (GRCm39) V612E probably damaging Het
Unc79 A G 12: 102,968,130 (GRCm39) S119G probably damaging Het
Washc5 T A 15: 59,227,688 (GRCm39) K425* probably null Het
Wtap G T 17: 13,186,782 (GRCm39) T255K probably benign Het
Zfp148 T C 16: 33,277,313 (GRCm39) V134A probably benign Het
Other mutations in Rpl21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01997:Rpl21 APN 5 146,772,418 (GRCm39) missense probably benign 0.05
R3713:Rpl21 UTSW 5 146,771,847 (GRCm39) missense possibly damaging 0.70
R7953:Rpl21 UTSW 5 146,772,702 (GRCm39) missense probably benign 0.07
R8043:Rpl21 UTSW 5 146,772,702 (GRCm39) missense probably benign 0.07
Z1177:Rpl21 UTSW 5 146,771,886 (GRCm39) missense probably benign 0.00
Posted On 2013-10-07