Incidental Mutation 'IGL00737:Mrpl30'
ID 12086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl30
Ensembl Gene ENSMUSG00000026087
Gene Name mitochondrial ribosomal protein L30
Synonyms Rpml28, 2310001L22Rik, MRP-L28
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # IGL00737
Quality Score
Status
Chromosome 1
Chromosomal Location 37929558-37937419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37934457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 33 (R33H)
Ref Sequence ENSEMBL: ENSMUSP00000141693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027256] [ENSMUST00000027257] [ENSMUST00000139725] [ENSMUST00000160082] [ENSMUST00000193673] [ENSMUST00000195373] [ENSMUST00000194857]
AlphaFold Q9D7N6
Predicted Effect probably benign
Transcript: ENSMUST00000027256
AA Change: R33H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000027256
Gene: ENSMUSG00000026087
AA Change: R33H

DomainStartEndE-ValueType
Pfam:Ribosomal_L30 67 117 8e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000027257
SMART Domains Protein: ENSMUSP00000027257
Gene: ENSMUSG00000026088

DomainStartEndE-ValueType
MIT 8 86 4.27e-17 SMART
Pfam:MIT_C 100 242 4.3e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139725
SMART Domains Protein: ENSMUSP00000123009
Gene: ENSMUSG00000026088

DomainStartEndE-ValueType
MIT 8 86 4.27e-17 SMART
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: R33H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000141654
Gene: ENSMUSG00000026087
AA Change: R33H

DomainStartEndE-ValueType
Pfam:Ribosomal_L30 66 117 6.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195373
AA Change: R33H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000141693
Gene: ENSMUSG00000026087
AA Change: R33H

DomainStartEndE-ValueType
Pfam:Ribosomal_L30 66 117 6.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194857
AA Change: R33H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000142168
Gene: ENSMUSG00000026087
AA Change: R33H

DomainStartEndE-ValueType
Pfam:Ribosomal_L30 66 117 1.3e-10 PFAM
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. 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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,087,823 (GRCm39) probably benign Het
AI597479 T G 1: 43,140,018 (GRCm39) H81Q probably benign Het
Alcam A T 16: 52,073,543 (GRCm39) L561Q unknown Het
Cd8a T C 6: 71,350,691 (GRCm39) V52A probably benign Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Cpsf2 T C 12: 101,949,725 (GRCm39) V119A probably damaging Het
Cry1 T C 10: 84,978,904 (GRCm39) N541D probably benign Het
Dock8 A G 19: 25,160,340 (GRCm39) T1748A probably benign Het
Kifap3 A T 1: 163,624,839 (GRCm39) I132F probably damaging Het
Lcor A G 19: 41,541,139 (GRCm39) T68A probably damaging Het
Lpcat2 A G 8: 93,635,834 (GRCm39) D372G probably damaging Het
Ncstn A G 1: 171,901,968 (GRCm39) Y151H probably benign Het
Parp4 A G 14: 56,821,620 (GRCm39) T2A probably damaging Het
Plxna2 G A 1: 194,428,547 (GRCm39) probably benign Het
Pum2 A G 12: 8,783,381 (GRCm39) Y610C probably damaging Het
Rabl6 T C 2: 25,474,132 (GRCm39) probably benign Het
Wdr33 T A 18: 32,011,169 (GRCm39) W273R probably damaging Het
Wdr59 T C 8: 112,185,368 (GRCm39) N855S probably damaging Het
Wipi2 T A 5: 142,652,625 (GRCm39) D412E probably benign Het
Zfp28 T C 7: 6,396,429 (GRCm39) *56Q probably null Het
Zfyve16 T A 13: 92,657,626 (GRCm39) K762* probably null Het
Other mutations in Mrpl30
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0043:Mrpl30 UTSW 1 37,937,259 (GRCm39) missense probably benign 0.03
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 2012-12-06