Incidental Mutation 'IGL02951:Rps21'
ID 366001
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps21
Ensembl Gene ENSMUSG00000039001
Gene Name ribosomal protein S21
Synonyms 2410030A14Rik, 1810049N11Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02951
Quality Score
Status
Chromosome 2
Chromosomal Location 179899172-179900237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 179899840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 59 (I59N)
Ref Sequence ENSEMBL: ENSMUSP00000058432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059080] [ENSMUST00000108891]
AlphaFold Q9CQR2
Predicted Effect probably damaging
Transcript: ENSMUST00000059080
AA Change: I59N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000058432
Gene: ENSMUSG00000039001
AA Change: I59N

DomainStartEndE-ValueType
Pfam:Ribosomal_S21e 1 82 2.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108891
SMART Domains Protein: ENSMUSP00000104519
Gene: ENSMUSG00000038990

DomainStartEndE-ValueType
low complexity region 2 39 N/A INTRINSIC
low complexity region 58 102 N/A INTRINSIC
low complexity region 116 121 N/A INTRINSIC
low complexity region 262 276 N/A INTRINSIC
CYCLIN 365 452 1.55e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145043
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 S21E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants that encode different protein isoforms have been described, but their existence has not been verified. 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,290,536 (GRCm39) probably benign Het
Acot10 G A 15: 20,665,868 (GRCm39) T291I probably benign Het
Adam34l T G 8: 44,080,125 (GRCm39) H33P possibly damaging Het
Atp13a3 A G 16: 30,157,439 (GRCm39) probably null Het
Atp2a1 C T 7: 126,049,399 (GRCm39) V548M possibly damaging Het
Bsn G A 9: 107,992,812 (GRCm39) S980L probably damaging Het
Ccdc158 A G 5: 92,797,865 (GRCm39) M425T probably damaging Het
Cdh23 A G 10: 60,147,143 (GRCm39) L2733S probably damaging Het
Chd3 C T 11: 69,251,874 (GRCm39) probably null Het
Cimap1d T C 10: 79,475,811 (GRCm39) N251S probably benign Het
Dock2 T C 11: 34,260,448 (GRCm39) probably benign Het
Elfn2 T C 15: 78,556,082 (GRCm39) K822E probably damaging Het
Eps15l1 G A 8: 73,112,240 (GRCm39) S764L probably benign Het
Etl4 C A 2: 20,806,348 (GRCm39) probably benign Het
Faap24 C A 7: 35,092,376 (GRCm39) K180N probably damaging Het
Fhod1 G A 8: 106,057,862 (GRCm39) R888W probably damaging Het
Fus T C 7: 127,581,009 (GRCm39) probably benign Het
Gm3453 T C 14: 5,976,168 (GRCm38) E201G possibly damaging Het
Gnpat G T 8: 125,597,644 (GRCm39) D69Y probably benign Het
Gpaa1 T A 15: 76,217,019 (GRCm39) probably benign Het
Gsta1 A T 9: 78,149,819 (GRCm39) K211* probably null Het
Lct G T 1: 128,227,948 (GRCm39) Q1182K probably damaging Het
Mroh1 T C 15: 76,311,836 (GRCm39) L523P probably damaging Het
Mrpl46 A G 7: 78,425,200 (GRCm39) probably benign Het
Mst1r G T 9: 107,785,403 (GRCm39) V354F possibly damaging Het
Myo15b A G 11: 115,772,127 (GRCm39) D299G probably damaging Het
Myo6 G A 9: 80,171,516 (GRCm39) V506I possibly damaging Het
Nadk A C 4: 155,671,933 (GRCm39) K271Q probably benign Het
Nbas A G 12: 13,412,542 (GRCm39) R954G probably benign Het
Nbr1 T A 11: 101,462,805 (GRCm39) probably null Het
Nup88 T C 11: 70,835,698 (GRCm39) D587G possibly damaging Het
Oas1a A T 5: 121,043,727 (GRCm39) F135Y probably damaging Het
Obscn A G 11: 58,885,339 (GRCm39) probably benign Het
Or4k42 T G 2: 111,320,465 (GRCm39) I13L probably benign Het
Parp14 G A 16: 35,678,903 (GRCm39) T355I probably benign Het
Pdgfd G T 9: 6,288,494 (GRCm39) L43F probably damaging Het
Pou5f2 T C 13: 78,173,237 (GRCm39) S60P probably benign Het
Prp2 A G 6: 132,576,788 (GRCm39) N25S unknown Het
Ptprq A T 10: 107,503,321 (GRCm39) F779Y probably benign Het
Rims2 C T 15: 39,398,334 (GRCm39) R1078C probably damaging Het
Rnf38 G T 4: 44,129,619 (GRCm39) S425* probably null Het
Scn5a A T 9: 119,324,751 (GRCm39) F1359Y probably damaging Het
Slc35b2 A G 17: 45,875,694 (GRCm39) E67G probably damaging Het
Slc37a2 A G 9: 37,166,611 (GRCm39) F15L probably benign Het
Snapc4 A C 2: 26,260,847 (GRCm39) N465K probably benign Het
Spata31f1a C T 4: 42,850,696 (GRCm39) E487K probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Taco1 A G 11: 105,960,353 (GRCm39) N98S probably benign Het
Tcea3 T C 4: 135,985,299 (GRCm39) probably null Het
Thada T C 17: 84,751,456 (GRCm39) S507G probably benign Het
Tmem132b T A 5: 125,864,611 (GRCm39) C906S probably damaging Het
Trpm2 A T 10: 77,765,112 (GRCm39) I963N possibly damaging Het
Usp10 A G 8: 120,673,825 (GRCm39) T397A probably benign Het
Usp3 G A 9: 66,449,832 (GRCm39) R160* probably null Het
Utp15 T C 13: 98,394,460 (GRCm39) Y144C probably damaging Het
Xpc G A 6: 91,483,831 (GRCm39) R172W probably damaging Het
Posted On 2015-12-18