Incidental Mutation 'IGL01997:Rpl21'
ID 182094
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 # IGL01997
Quality Score
Status
Chromosome 5
Chromosomal Location 146769955-146773842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 146772418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 96 (I96T)
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
AA Change: I96T

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000041652
Gene: ENSMUSG00000041453
AA Change: I96T

DomainStartEndE-ValueType
Pfam:Ribosomal_L21e 3 99 9.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075453
AA Change: I96T

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106213
Gene: ENSMUSG00000041453
AA Change: I96T

DomainStartEndE-ValueType
Pfam:Ribosomal_L21e 3 99 9.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099272
AA Change: I96T

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106211
Gene: ENSMUSG00000041453
AA Change: I96T

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 G A 1: 179,583,027 (GRCm39) T83I probably damaging Het
Aoah A T 13: 21,184,108 (GRCm39) M391L probably benign Het
Apc A G 18: 34,448,476 (GRCm39) T1757A probably benign Het
B4galt5 A G 2: 167,143,261 (GRCm39) Y388H probably benign Het
Cyp3a25 A T 5: 145,931,766 (GRCm39) M114K possibly damaging Het
Dcbld1 A G 10: 52,193,206 (GRCm39) E246G probably damaging Het
Fstl4 T A 11: 53,053,881 (GRCm39) Y404* probably null Het
Gnat3 G T 5: 18,204,721 (GRCm39) E125* probably null Het
Hspa5 C T 2: 34,662,327 (GRCm39) probably benign Het
Krt72 A G 15: 101,693,315 (GRCm39) S200P probably damaging Het
Mab21l3 G A 3: 101,725,955 (GRCm39) T347I probably damaging Het
Map2k7 A G 8: 4,293,442 (GRCm39) E104G probably benign Het
Map3k9 T C 12: 81,819,471 (GRCm39) D261G probably damaging Het
Mepe C T 5: 104,485,466 (GRCm39) P202L probably damaging Het
Mill1 G A 7: 17,989,814 (GRCm39) G32D probably damaging Het
Mmp20 T G 9: 7,639,261 (GRCm39) M143R probably benign Het
Mms19 A T 19: 41,944,970 (GRCm39) L302H probably damaging Het
Myh13 T A 11: 67,257,992 (GRCm39) I1728K probably benign Het
Nsun2 C T 13: 69,771,365 (GRCm39) P290L probably damaging Het
Nwd2 A T 5: 63,961,938 (GRCm39) R507S probably damaging Het
Os9 T A 10: 126,955,312 (GRCm39) H147L probably benign Het
Piezo1 T C 8: 123,215,070 (GRCm39) probably benign Het
Plekhf1 A T 7: 37,920,752 (GRCm39) V272D probably damaging Het
Pnisr T C 4: 21,871,537 (GRCm39) I419T possibly damaging Het
Ppp1r3d G T 2: 178,055,447 (GRCm39) T185K possibly damaging Het
Ppp2r2a C T 14: 67,253,968 (GRCm39) S400N probably benign Het
S1pr3 C T 13: 51,573,751 (GRCm39) R311W probably damaging Het
Senp5 T C 16: 31,782,288 (GRCm39) K736R probably damaging Het
Slfn9 T C 11: 82,878,503 (GRCm39) I209V possibly damaging Het
Traf3ip1 T A 1: 91,435,292 (GRCm39) probably null Het
Tyk2 A G 9: 21,021,790 (GRCm39) F879L probably damaging Het
Vmn2r53 T C 7: 12,316,373 (GRCm39) D482G possibly damaging Het
Vmn2r65 A G 7: 84,589,978 (GRCm39) F646S probably damaging Het
Vps13b T A 15: 35,709,370 (GRCm39) S1772R probably damaging Het
Vwde C T 6: 13,215,705 (GRCm39) C117Y probably damaging Het
Zfyve26 T C 12: 79,291,174 (GRCm39) I2144V probably benign Het
Other mutations in Rpl21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Rpl21 APN 5 146,770,996 (GRCm39) splice site probably benign
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 2014-05-07