Incidental Mutation 'IGL03070:Mrps21'
ID417496
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps21
Ensembl Gene ENSMUSG00000054312
Gene Namemitochondrial ribosomal protein S21
Synonyms1810031B19Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03070
Quality Score
Status
Chromosome3
Chromosomal Location95862634-95871519 bp(-) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) A to T at 95870585 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067298] [ENSMUST00000072587] [ENSMUST00000142437]
Predicted Effect probably benign
Transcript: ENSMUST00000067298
SMART Domains Protein: ENSMUSP00000066990
Gene: ENSMUSG00000054312

DomainStartEndE-ValueType
Pfam:Ribosomal_S21 11 64 4.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072587
SMART Domains Protein: ENSMUSP00000130403
Gene: ENSMUSG00000054312

DomainStartEndE-ValueType
Pfam:Ribosomal_S21 10 65 3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142433
Predicted Effect probably benign
Transcript: ENSMUST00000142437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143306
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5' UTR; both transcripts encode the same protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190007I07Rik A T 10: 82,620,116 probably benign Het
Adam3 T C 8: 24,703,784 E404G probably damaging Het
Arid1a A G 4: 133,694,753 S778P unknown Het
Asah2 A T 19: 32,006,344 Y567N probably damaging Het
Crb1 G T 1: 139,241,258 H841N possibly damaging Het
Ehbp1l1 A G 19: 5,715,953 V1454A probably benign Het
Eif3d A G 15: 77,959,643 L501P probably damaging Het
Fam122a A C 19: 24,476,952 D135E probably damaging Het
Fbxo4 A T 15: 3,977,862 S107T possibly damaging Het
Galnt10 T C 11: 57,725,582 Y108H probably damaging Het
Hspbap1 T A 16: 35,818,726 D263E probably damaging Het
Kpna3 T C 14: 61,370,782 probably benign Het
Miox A G 15: 89,336,084 T160A possibly damaging Het
Mlxipl G A 5: 135,132,453 V409M possibly damaging Het
Muc6 A G 7: 141,644,567 probably benign Het
Mup6 A T 4: 60,003,999 I31F probably damaging Het
Olfr593 A G 7: 103,212,697 H279R probably benign Het
Pgr T A 9: 8,903,664 I562N possibly damaging Het
Prag1 T A 8: 36,103,549 W429R probably benign Het
Prrc2c G T 1: 162,677,409 P2621Q probably damaging Het
Psip1 T G 4: 83,465,081 K232N probably damaging Het
Ryr1 T C 7: 29,070,659 Y2663C probably damaging Het
Trhr2 T A 8: 122,358,603 Q214L probably benign Het
Txndc11 A T 16: 11,075,287 Y860N probably damaging Het
Vmn2r72 C T 7: 85,752,041 probably benign Het
Yif1a T A 19: 5,088,729 H4Q possibly damaging Het
Other mutations in Mrps21
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0066:Mrps21 UTSW 3 95862885 missense probably null 1.00
R0066:Mrps21 UTSW 3 95862885 missense probably null 1.00
R6050:Mrps21 UTSW 3 95862888 missense probably benign 0.22
R6711:Mrps21 UTSW 3 95870583 start gained probably benign
R7442:Mrps21 UTSW 3 95862816 missense probably damaging 1.00
R7472:Mrps21 UTSW 3 95862798 missense probably benign 0.01
Posted On2016-08-02