Incidental Mutation 'R7692:Mrpl30'
ID 593425
Institutional Source Beutler Lab
Gene Symbol Mrpl30
Ensembl Gene ENSMUSG00000026087
Gene Name mitochondrial ribosomal protein L30
Synonyms Rpml28, 2310001L22Rik, MRP-L28
MMRRC Submission 045756-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R7692 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 37929558-37937419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37934439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 27 (I27T)
Ref Sequence ENSEMBL: ENSMUSP00000027256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027256] [ENSMUST00000027257] [ENSMUST00000139725] [ENSMUST00000160082] [ENSMUST00000193673] [ENSMUST00000194857] [ENSMUST00000195373]
AlphaFold Q9D7N6
Predicted Effect probably benign
Transcript: ENSMUST00000027256
AA Change: I27T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000027256
Gene: ENSMUSG00000026087
AA Change: I27T

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 probably benign
Transcript: ENSMUST00000193673
AA Change: I27T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000141654
Gene: ENSMUSG00000026087
AA Change: I27T

DomainStartEndE-ValueType
Pfam:Ribosomal_L30 66 117 6.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194857
AA Change: I27T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000142168
Gene: ENSMUSG00000026087
AA Change: I27T

DomainStartEndE-ValueType
Pfam:Ribosomal_L30 66 117 1.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195373
AA Change: I27T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000141693
Gene: ENSMUSG00000026087
AA Change: I27T

DomainStartEndE-ValueType
Pfam:Ribosomal_L30 66 117 6.5e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b G A 8: 43,973,832 (GRCm39) T390I probably benign Het
Adgb A G 10: 10,287,456 (GRCm39) probably null Het
Ado G T 10: 67,384,265 (GRCm39) Y113* probably null Het
Angptl1 A G 1: 156,672,885 (GRCm39) E237G probably damaging Het
Arid2 T A 15: 96,254,578 (GRCm39) Y141* probably null Het
Clvs1 T C 4: 9,350,739 (GRCm39) I183T probably benign Het
Dnah1 T C 14: 31,014,295 (GRCm39) K1817E probably benign Het
Eif3e C A 15: 43,126,642 (GRCm39) R271L probably damaging Het
Eml6 A G 11: 29,703,085 (GRCm39) V1611A probably damaging Het
Enpp3 G T 10: 24,660,739 (GRCm39) Y634* probably null Het
Evi5l C T 8: 4,250,886 (GRCm39) R394W probably damaging Het
Fcgr3 A C 1: 170,881,661 (GRCm39) F156V probably damaging Het
Fmo1 T A 1: 162,661,402 (GRCm39) T294S probably benign Het
Gabrb3 A G 7: 57,466,203 (GRCm39) Q339R probably damaging Het
Gen1 T A 12: 11,292,167 (GRCm39) T606S probably benign Het
Gfod1 T C 13: 43,354,528 (GRCm39) Q149R probably benign Het
Golm1 A G 13: 59,788,071 (GRCm39) V276A probably benign Het
Hc C A 2: 34,914,161 (GRCm39) V849F probably damaging Het
Hectd4 T C 5: 121,459,627 (GRCm39) I832T possibly damaging Het
Hspa14 T C 2: 3,497,643 (GRCm39) D283G probably damaging Het
Lztfl1 C T 9: 123,541,536 (GRCm39) W94* probably null Het
Lzts3 T C 2: 130,477,306 (GRCm39) S381G probably benign Het
Mgat2 A G 12: 69,231,444 (GRCm39) Y6C probably damaging Het
Muc5b A T 7: 141,406,966 (GRCm39) T1045S unknown Het
Nlrp4a G A 7: 26,148,690 (GRCm39) R99Q probably benign Het
Or10g1 T C 14: 52,647,945 (GRCm39) Y128C probably damaging Het
Or5b98 A G 19: 12,931,006 (GRCm39) T18A possibly damaging Het
Phlpp1 T C 1: 106,209,132 (GRCm39) L495P probably damaging Het
Pla2g4d T C 2: 120,109,776 (GRCm39) D178G possibly damaging Het
Prl5a1 C G 13: 28,333,997 (GRCm39) L167V probably damaging Het
Sardh A G 2: 27,087,651 (GRCm39) V740A probably benign Het
Sbno1 T G 5: 124,543,709 (GRCm39) T277P probably benign Het
Slc2a1 T C 4: 118,993,462 (GRCm39) V433A probably damaging Het
Slc4a10 T C 2: 62,134,308 (GRCm39) V1008A possibly damaging Het
Smarcal1 T G 1: 72,625,179 (GRCm39) S109A probably benign Het
Speg A G 1: 75,377,834 (GRCm39) D864G probably benign Het
Steap4 T C 5: 8,026,976 (GRCm39) I313T probably benign Het
Tab2 A T 10: 7,786,869 (GRCm39) D614E probably damaging Het
Tenm4 A G 7: 96,544,610 (GRCm39) K2246E probably damaging Het
Timm23 A G 14: 31,902,520 (GRCm39) S208P probably damaging Het
Tmem229a C A 6: 24,955,211 (GRCm39) C181F probably benign Het
Ugdh T C 5: 65,574,958 (GRCm39) Y356C probably damaging Het
Ugt2a1 A G 5: 87,634,586 (GRCm39) L7P probably damaging Het
Uhrf1 A G 17: 56,619,905 (GRCm39) D272G possibly damaging Het
Vmn1r206 T A 13: 22,804,827 (GRCm39) I127F probably damaging Het
Vmn2r106 T C 17: 20,505,490 (GRCm39) Y68C possibly damaging Het
Zfand6 G A 7: 84,283,141 (GRCm39) P72L not run Het
Other mutations in Mrpl30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Mrpl30 APN 1 37,934,457 (GRCm39) missense probably benign 0.02
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
Predicted Primers PCR Primer
(F):5'- AATGAGATGCGTCCACTCAGTG -3'
(R):5'- ATCTCCACTAGCAGGCTGTGAC -3'

Sequencing Primer
(F):5'- CTCAGTGAGGTAGCCACGTTAGAC -3'
(R):5'- TGACGTCTGATGACCTGAGCTC -3'
Posted On 2019-11-12