Incidental Mutation 'IGL01305:Rpl21'
ID73422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl21
Ensembl Gene ENSMUSG00000041453
Gene Nameribosomal protein L21
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.918) question?
Stock #IGL01305
Quality Score
Status
Chromosome5
Chromosomal Location146832890-146837032 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 146834186 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035983] [ENSMUST00000075453] [ENSMUST00000099272]
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: 81,913,714 E663G possibly damaging Het
Adam29 T A 8: 55,871,844 H525L probably benign Het
Adamts6 T A 13: 104,390,082 V506E probably damaging Het
Ankfy1 G A 11: 72,764,791 E1101K probably damaging Het
Arap3 C T 18: 37,991,327 probably null Het
Asxl3 T A 18: 22,516,446 H497Q probably benign Het
Caln1 A G 5: 130,669,551 E96G probably damaging Het
Cdh23 T C 10: 60,312,624 T2653A probably damaging Het
Cdk5rap2 T A 4: 70,380,235 I87F possibly damaging Het
Chil1 A G 1: 134,182,816 probably benign Het
Col27a1 A G 4: 63,300,741 probably benign Het
Crybg3 T A 16: 59,529,227 H934L probably damaging Het
Cyp2d22 G A 15: 82,371,668 T461I probably damaging Het
Dhcr24 T C 4: 106,572,278 F183L possibly damaging Het
Dnajc13 T C 9: 104,230,637 probably null Het
Dusp16 A T 6: 134,718,861 S336T probably benign Het
F930017D23Rik T G 10: 43,604,375 noncoding transcript Het
Fasl A G 1: 161,781,838 V193A probably damaging Het
Fgf5 T C 5: 98,275,316 Y187H probably damaging Het
Focad C A 4: 88,393,547 Q1423K probably benign Het
Gabrp T C 11: 33,555,055 T249A probably damaging Het
Galnt5 A T 2: 58,025,342 K637* probably null Het
Gm20479 G A 7: 27,357,387 R2525* probably null Het
Grm6 A T 11: 50,859,519 D503V probably benign Het
Hmg20a A T 9: 56,487,650 D216V probably damaging Het
Lyst C T 13: 13,678,056 R2214C probably benign Het
Micu2 T A 14: 57,943,625 D184V probably damaging Het
Nabp2 T A 10: 128,408,762 I52F probably damaging Het
Nat8f7 A T 6: 85,707,588 L90* probably null Het
Olfr1297 T C 2: 111,621,201 N291S probably damaging Het
Olfr30 A T 11: 58,455,262 M229K probably damaging Het
Pphln1 A G 15: 93,489,104 E273G probably damaging Het
Ppil1 C A 17: 29,263,888 V14F possibly damaging Het
Relt A T 7: 100,851,698 L28Q probably damaging Het
Rrp36 A T 17: 46,668,091 probably benign Het
St8sia5 G A 18: 77,254,662 G320D probably damaging Het
Taf2 T C 15: 55,048,274 E582G probably damaging Het
Tas2r116 T A 6: 132,855,443 N2K probably benign Het
Tmem168 A T 6: 13,583,046 V612E probably damaging Het
Unc79 A G 12: 103,001,871 S119G probably damaging Het
Washc5 T A 15: 59,355,839 K425* probably null Het
Wdr61 C A 9: 54,728,186 V44L probably damaging Het
Wtap G T 17: 12,967,895 T255K probably benign Het
Zfp148 T C 16: 33,456,943 V134A probably benign Het
Other mutations in Rpl21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01997:Rpl21 APN 5 146835608 missense probably benign 0.05
R3713:Rpl21 UTSW 5 146835037 missense possibly damaging 0.70
Posted On2013-10-07