Incidental Mutation 'P0043:Mrpl30'
ID 15772
Institutional Source Beutler Lab
Gene Symbol Mrpl30
Ensembl Gene ENSMUSG00000026087
Gene Name mitochondrial ribosomal protein L30
Synonyms Rpml28, 2310001L22Rik, MRP-L28
MMRRC Submission 038291-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # P0043 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 37929558-37937419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37937259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 133 (T133A)
Ref Sequence ENSEMBL: ENSMUSP00000141693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027256] [ENSMUST00000160082] [ENSMUST00000193673] [ENSMUST00000194857] [ENSMUST00000195373]
AlphaFold Q9D7N6
Predicted Effect probably benign
Transcript: ENSMUST00000027256
AA Change: T133A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000027256
Gene: ENSMUSG00000026087
AA Change: T133A

DomainStartEndE-ValueType
Pfam:Ribosomal_L30 67 117 8e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162513
Predicted Effect probably benign
Transcript: ENSMUST00000193673
AA Change: T133A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141654
Gene: ENSMUSG00000026087
AA Change: T133A

DomainStartEndE-ValueType
Pfam:Ribosomal_L30 66 117 6.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194857
SMART Domains Protein: ENSMUSP00000142168
Gene: ENSMUSG00000026087

DomainStartEndE-ValueType
Pfam:Ribosomal_L30 66 117 1.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195373
AA Change: T133A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141693
Gene: ENSMUSG00000026087
AA Change: T133A

DomainStartEndE-ValueType
Pfam:Ribosomal_L30 66 117 6.5e-12 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 74.1%
  • 10x: 50.1%
  • 20x: 26.7%
Validation Efficiency 74% (145/195)
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. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p and 12p. Read-through transcription also exists between this gene and the neighboring upstream lipoyltransferase 1 (LIPT1) gene. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chn1 A T 2: 73,454,509 (GRCm39) V247E probably damaging Het
Col28a1 T A 6: 8,168,152 (GRCm39) probably benign Het
Cxcl5 A G 5: 90,907,826 (GRCm39) I85M probably damaging Het
Fnip1 A G 11: 54,394,051 (GRCm39) E829G probably benign Het
Kctd18 G A 1: 58,006,722 (GRCm39) R43C probably damaging Het
Kidins220 T A 12: 25,058,155 (GRCm39) F629I probably damaging Het
Lamb1 T C 12: 31,328,620 (GRCm39) S195P probably damaging Het
Lrrc74b A T 16: 17,376,023 (GRCm39) probably benign Het
Mrps27 A G 13: 99,548,754 (GRCm39) T297A probably benign Het
Per1 G T 11: 68,992,869 (GRCm39) probably benign Het
Ptprq C A 10: 107,416,086 (GRCm39) M1737I probably benign Het
Ropn1l A C 15: 31,457,447 (GRCm39) probably benign Het
Sfrp4 A G 13: 19,807,765 (GRCm39) I55V probably benign Het
Spata31 G A 13: 65,068,820 (GRCm39) probably null Het
Trpm6 T A 19: 18,855,129 (GRCm39) D1929E probably damaging Het
Ttn A G 2: 76,628,358 (GRCm39) S12855P probably damaging Het
Zscan10 C T 17: 23,828,594 (GRCm39) R302* probably null Het
Other mutations in Mrpl30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Mrpl30 APN 1 37,934,457 (GRCm39) missense probably benign 0.02
R5049:Mrpl30 UTSW 1 37,936,791 (GRCm39) missense possibly damaging 0.49
R7692:Mrpl30 UTSW 1 37,934,439 (GRCm39) missense probably benign 0.00
Posted On 2012-12-21