Incidental Mutation 'IGL01733:Mrpl33'
ID 105587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl33
Ensembl Gene ENSMUSG00000106918
Gene Name mitochondrial ribosomal protein L33
Synonyms 0610009M10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01733
Quality Score
Status
Chromosome 5
Chromosomal Location 31771295-31779988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31779733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 54 (V54A)
Ref Sequence ENSEMBL: ENSMUSP00000031024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031018] [ENSMUST00000031024] [ENSMUST00000201910]
AlphaFold Q9CQP0
Predicted Effect probably benign
Transcript: ENSMUST00000031018
SMART Domains Protein: ENSMUSP00000031018
Gene: ENSMUSG00000029136

DomainStartEndE-ValueType
Pfam:PfkB 16 315 2.1e-66 PFAM
Pfam:Phos_pyr_kin 166 306 9.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031024
AA Change: V54A

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031024
Gene: ENSMUSG00000106918
AA Change: V54A

DomainStartEndE-ValueType
Pfam:Ribosomal_L33 16 60 1.3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201744
Predicted Effect probably benign
Transcript: ENSMUST00000201910
SMART Domains Protein: ENSMUSP00000144669
Gene: ENSMUSG00000106918

DomainStartEndE-ValueType
PDB:4CE4|6 1 49 9e-15 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201923
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 39S subunit protein. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 C T 15: 91,075,817 (GRCm39) probably benign Het
Aco1 T G 4: 40,175,738 (GRCm39) probably benign Het
Brinp3 T C 1: 146,390,541 (GRCm39) V29A probably benign Het
Brsk1 T C 7: 4,709,071 (GRCm39) Y361H probably damaging Het
Ccdc178 G T 18: 22,157,869 (GRCm39) probably benign Het
Ces1f A G 8: 93,996,642 (GRCm39) I217T probably damaging Het
Col6a6 T A 9: 105,586,454 (GRCm39) T1856S possibly damaging Het
Cuedc2 C A 19: 46,321,112 (GRCm39) V7F probably damaging Het
Cyp2d34 C T 15: 82,502,861 (GRCm39) V122M possibly damaging Het
Ddx60 T C 8: 62,436,899 (GRCm39) S949P probably damaging Het
Dlg5 G A 14: 24,220,517 (GRCm39) R554W probably damaging Het
Fig4 A T 10: 41,153,389 (GRCm39) N137K possibly damaging Het
Gpr155 C T 2: 73,183,956 (GRCm39) probably null Het
Grk6 A C 13: 55,599,204 (GRCm39) N168T possibly damaging Het
Hfe T G 13: 23,890,848 (GRCm39) K97T possibly damaging Het
Hsd3b2 C T 3: 98,623,801 (GRCm39) E26K probably damaging Het
Impg1 A G 9: 80,249,206 (GRCm39) S666P probably damaging Het
Itpkb T G 1: 180,160,734 (GRCm39) S287A possibly damaging Het
Kcnh5 T C 12: 75,011,966 (GRCm39) D651G probably benign Het
Lemd3 C T 10: 120,769,568 (GRCm39) W588* probably null Het
Lepr A G 4: 101,622,279 (GRCm39) T404A probably benign Het
Metap1d A G 2: 71,341,777 (GRCm39) I124V probably damaging Het
Mybl1 A T 1: 9,755,935 (GRCm39) S205T possibly damaging Het
Mybpc2 T A 7: 44,155,622 (GRCm39) D877V probably benign Het
Nxph2 T C 2: 23,290,137 (GRCm39) V163A probably benign Het
Pakap G T 4: 57,856,488 (GRCm39) V606L probably benign Het
Pex16 C T 2: 92,209,173 (GRCm39) P192S probably damaging Het
Ptprq C A 10: 107,498,460 (GRCm39) M872I probably benign Het
Ripor1 C T 8: 106,342,378 (GRCm39) R150W possibly damaging Het
Spns2 A T 11: 72,347,336 (GRCm39) V423E possibly damaging Het
St6galnac2 C T 11: 116,575,945 (GRCm39) D169N probably damaging Het
Stoml3 A G 3: 53,405,548 (GRCm39) I50V probably benign Het
Taar8c A G 10: 23,977,155 (GRCm39) I219T possibly damaging Het
Ubap2 A C 4: 41,195,862 (GRCm39) probably benign Het
Zfat T C 15: 68,052,579 (GRCm39) D398G probably damaging Het
Other mutations in Mrpl33
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4715:Mrpl33 UTSW 5 31,773,702 (GRCm39) intron probably benign
Posted On 2014-01-21