Incidental Mutation 'IGL01065:Mrps33'
ID 51236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps33
Ensembl Gene ENSMUSG00000029918
Gene Name mitochondrial ribosomal protein S33
Synonyms MRP-S33, PTD003, Gdap3, CGI-139
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL01065
Quality Score
Status
Chromosome 6
Chromosomal Location 39778738-39787870 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 39779447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 83 (R83*)
Ref Sequence ENSEMBL: ENSMUSP00000031978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031978] [ENSMUST00000114797] [ENSMUST00000201461]
AlphaFold Q9D2R8
Predicted Effect probably null
Transcript: ENSMUST00000031978
AA Change: R83*
SMART Domains Protein: ENSMUSP00000031978
Gene: ENSMUSG00000029918
AA Change: R83*

DomainStartEndE-ValueType
Pfam:MRP-S33 7 96 2.5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139992
Predicted Effect probably benign
Transcript: ENSMUST00000201461
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. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that is one of the more highly conserved mitochondrial ribosomal proteins among mammals, Drosophila and C. elegans. Splice variants that differ in the 5' UTR have been found for this gene; all variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q, 4p, 4q, and 20q [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apob A G 12: 8,053,299 (GRCm39) Y1247C probably damaging Het
Atg16l1 A T 1: 87,713,653 (GRCm39) N401I probably damaging Het
Bcam T C 7: 19,490,724 (GRCm39) H591R probably benign Het
Bcat1 T C 6: 144,946,015 (GRCm39) S446G possibly damaging Het
C2cd5 A G 6: 143,024,005 (GRCm39) S262P probably damaging Het
Clrn1 T C 3: 58,792,446 (GRCm39) K6E probably damaging Het
D17H6S53E A T 17: 35,346,259 (GRCm39) K57* probably null Het
Dennd1a T A 2: 37,734,917 (GRCm39) I17F probably benign Het
Depdc7 A C 2: 104,552,426 (GRCm39) Y460* probably null Het
Disp3 T C 4: 148,345,640 (GRCm39) Y400C probably damaging Het
Edem3 T C 1: 151,653,302 (GRCm39) Y203H probably damaging Het
Fbxl5 A G 5: 43,902,676 (GRCm39) C679R probably damaging Het
Fhad1 T C 4: 141,632,923 (GRCm39) T1194A probably benign Het
Garin4 T C 1: 190,895,224 (GRCm39) D473G probably benign Het
Gipc2 A G 3: 151,808,294 (GRCm39) L253P possibly damaging Het
Gpr26 T C 7: 131,569,230 (GRCm39) Y192H probably damaging Het
Hoxb6 A G 11: 96,191,635 (GRCm39) T186A probably damaging Het
Kif24 A G 4: 41,423,639 (GRCm39) probably benign Het
Lonp1 T C 17: 56,922,500 (GRCm39) probably benign Het
Lrp1 A G 10: 127,410,907 (GRCm39) I1427T probably benign Het
Lrp2 C T 2: 69,299,780 (GRCm39) E3091K possibly damaging Het
Lzts1 T C 8: 69,588,744 (GRCm39) N404S probably benign Het
Map3k4 A T 17: 12,451,877 (GRCm39) D1470E probably damaging Het
Med30 A T 15: 52,584,456 (GRCm39) N125Y probably benign Het
Mgam G A 6: 40,639,644 (GRCm39) probably null Het
Notch3 A T 17: 32,365,390 (GRCm39) Y1107* probably null Het
Rc3h2 T A 2: 37,267,856 (GRCm39) probably benign Het
Rev1 T C 1: 38,138,090 (GRCm39) E65G possibly damaging Het
Rgl1 T C 1: 152,394,893 (GRCm39) N760S probably damaging Het
Slc16a4 T C 3: 107,210,416 (GRCm39) I362T possibly damaging Het
Slc25a24 G A 3: 109,065,967 (GRCm39) probably benign Het
Slc2a4 G T 11: 69,836,782 (GRCm39) probably benign Het
Slc39a13 T A 2: 90,894,051 (GRCm39) I256F probably damaging Het
Spdya A T 17: 71,863,320 (GRCm39) N23I possibly damaging Het
Srpra T A 9: 35,124,734 (GRCm39) W112R probably damaging Het
Tbc1d4 A C 14: 101,686,629 (GRCm39) probably benign Het
Ttc39d G A 17: 80,523,703 (GRCm39) G121R probably damaging Het
Tuba3a C T 6: 125,259,920 (GRCm39) V9M possibly damaging Het
Upf2 A G 2: 5,966,111 (GRCm39) K244E unknown Het
Usp39 T C 6: 72,316,958 (GRCm39) Y141C probably damaging Het
Other mutations in Mrps33
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0544:Mrps33 UTSW 6 39,782,488 (GRCm39) missense possibly damaging 0.94
R1800:Mrps33 UTSW 6 39,779,429 (GRCm39) missense probably damaging 1.00
R2926:Mrps33 UTSW 6 39,782,438 (GRCm39) missense probably damaging 0.96
R6481:Mrps33 UTSW 6 39,782,304 (GRCm39) critical splice donor site probably null
R6722:Mrps33 UTSW 6 39,782,599 (GRCm39) start gained probably benign
R6781:Mrps33 UTSW 6 39,782,757 (GRCm39) start gained probably benign
R7440:Mrps33 UTSW 6 39,779,413 (GRCm39) missense probably damaging 1.00
R9233:Mrps33 UTSW 6 39,782,447 (GRCm39) missense probably benign
R9440:Mrps33 UTSW 6 39,782,364 (GRCm39) nonsense probably null
R9610:Mrps33 UTSW 6 39,779,422 (GRCm39) missense probably damaging 1.00
R9611:Mrps33 UTSW 6 39,779,422 (GRCm39) missense probably damaging 1.00
Z1186:Mrps33 UTSW 6 39,779,449 (GRCm39) missense possibly damaging 0.90
Posted On 2013-06-21