Incidental Mutation 'IGL02727:Mrpl3'
ID 305259
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl3
Ensembl Gene ENSMUSG00000032563
Gene Name mitochondrial ribosomal protein L3
Synonyms dcr, 5930422H18Rik, 2010320L16Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02727
Quality Score
Status
Chromosome 9
Chromosomal Location 104930394-104954665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 104931726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 59 (D59Y)
Ref Sequence ENSEMBL: ENSMUSP00000150592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035177] [ENSMUST00000131655] [ENSMUST00000142424] [ENSMUST00000149243] [ENSMUST00000190492] [ENSMUST00000214036]
AlphaFold Q99N95
Predicted Effect probably damaging
Transcript: ENSMUST00000035177
AA Change: D67Y

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035177
Gene: ENSMUSG00000032563
AA Change: D67Y

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 1 119 1.1e-13 PFAM
Pfam:Ribosomal_L3 112 340 2e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131655
AA Change: D67Y

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120313
Gene: ENSMUSG00000032563
AA Change: D67Y

DomainStartEndE-ValueType
PDB:4CE4|E 1 148 1e-82 PDB
SCOP:d1jj2b_ 90 148 5e-9 SMART
Predicted Effect silent
Transcript: ENSMUST00000142424
Predicted Effect probably damaging
Transcript: ENSMUST00000149243
AA Change: D67Y

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117547
Gene: ENSMUSG00000032563
AA Change: D67Y

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 103 300 1.4e-46 PFAM
Predicted Effect silent
Transcript: ENSMUST00000190492
SMART Domains Protein: ENSMUSP00000140346
Gene: ENSMUSG00000032563

DomainStartEndE-ValueType
PDB:4CE4|E 1 37 2e-7 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000214036
AA Change: D59Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
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 that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,226,724 (GRCm39) T13A probably benign Het
Aldh1l2 T A 10: 83,342,469 (GRCm39) K447I probably damaging Het
Ankrd17 A G 5: 90,392,151 (GRCm39) S1840P possibly damaging Het
Ash1l A G 3: 88,930,344 (GRCm39) I1940M probably benign Het
Bfar T G 16: 13,506,791 (GRCm39) probably null Het
Bicra G T 7: 15,713,390 (GRCm39) H937Q possibly damaging Het
Brip1 A T 11: 86,043,562 (GRCm39) M334K probably benign Het
Camsap2 T G 1: 136,232,050 (GRCm39) M182L probably benign Het
Chd6 A T 2: 160,811,383 (GRCm39) C1407S probably damaging Het
Cmya5 A G 13: 93,234,753 (GRCm39) S112P possibly damaging Het
Csmd1 A T 8: 16,281,341 (GRCm39) V728E probably damaging Het
Cyp2j6 T A 4: 96,434,001 (GRCm39) Q103L probably benign Het
Ddias A T 7: 92,515,830 (GRCm39) I21K probably damaging Het
Derl2 A C 11: 70,904,036 (GRCm39) probably benign Het
Dgka A T 10: 128,558,317 (GRCm39) probably benign Het
Dusp11 T C 6: 85,938,474 (GRCm39) D15G probably damaging Het
Enpp2 T C 15: 54,773,577 (GRCm39) D110G probably damaging Het
Fkbp11 A T 15: 98,622,471 (GRCm39) V134E probably damaging Het
Gm3248 T C 14: 5,945,036 (GRCm38) T49A probably damaging Het
Gm57858 T A 3: 36,087,065 (GRCm39) R176S possibly damaging Het
Irag2 T C 6: 145,120,344 (GRCm39) S520P possibly damaging Het
Luzp2 T C 7: 54,821,939 (GRCm39) probably benign Het
Manea T A 4: 26,328,126 (GRCm39) E305V probably damaging Het
Manea C A 4: 26,328,127 (GRCm39) E305* probably null Het
Megf6 A G 4: 154,337,606 (GRCm39) probably null Het
Myh9 T C 15: 77,675,942 (GRCm39) Y248C probably benign Het
Nbeal2 G A 9: 110,468,353 (GRCm39) probably benign Het
Or10a5 G T 7: 106,635,902 (GRCm39) C180F probably damaging Het
Or1f19 T A 16: 3,411,190 (GRCm39) I310K probably benign Het
Or2y1c G T 11: 49,361,893 (GRCm39) G305V probably benign Het
Or8b40 A G 9: 38,027,808 (GRCm39) T239A probably damaging Het
Pax8 C A 2: 24,331,642 (GRCm39) C147F probably damaging Het
Phf12 T C 11: 77,914,493 (GRCm39) V96A possibly damaging Het
Psg18 A T 7: 18,079,875 (GRCm39) I442K probably damaging Het
Pygl T A 12: 70,254,442 (GRCm39) probably null Het
Rassf2 C A 2: 131,846,307 (GRCm39) R150L probably benign Het
Rdh7 A T 10: 127,723,487 (GRCm39) W123R probably damaging Het
Saal1 T C 7: 46,339,223 (GRCm39) probably null Het
Sall1 T C 8: 89,757,383 (GRCm39) D907G probably damaging Het
Spag1 T A 15: 36,234,964 (GRCm39) F876I probably damaging Het
Syncrip G A 9: 88,361,932 (GRCm39) A61V probably damaging Het
Trbv3 A T 6: 41,025,576 (GRCm39) K55N probably benign Het
Vmn1r178 A G 7: 23,593,871 (GRCm39) probably null Het
Vmn2r84 T C 10: 130,229,995 (GRCm39) D39G possibly damaging Het
Other mutations in Mrpl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Mrpl3 APN 9 104,941,305 (GRCm39) missense probably damaging 1.00
IGL00917:Mrpl3 APN 9 104,934,240 (GRCm39) missense probably damaging 1.00
IGL01989:Mrpl3 APN 9 104,948,678 (GRCm39) missense probably benign 0.39
IGL03188:Mrpl3 APN 9 104,934,264 (GRCm39) missense probably benign 0.00
R0049:Mrpl3 UTSW 9 104,932,872 (GRCm39) missense probably benign 0.06
R0049:Mrpl3 UTSW 9 104,932,872 (GRCm39) missense probably benign 0.06
R0398:Mrpl3 UTSW 9 104,941,302 (GRCm39) missense probably damaging 1.00
R1469:Mrpl3 UTSW 9 104,954,201 (GRCm39) missense probably damaging 0.99
R1469:Mrpl3 UTSW 9 104,954,201 (GRCm39) missense probably damaging 0.99
R1784:Mrpl3 UTSW 9 104,934,266 (GRCm39) missense probably benign 0.00
R4026:Mrpl3 UTSW 9 104,948,685 (GRCm39) critical splice donor site probably null
R4812:Mrpl3 UTSW 9 104,951,023 (GRCm39) missense probably damaging 1.00
R4838:Mrpl3 UTSW 9 104,934,231 (GRCm39) missense probably damaging 1.00
R5407:Mrpl3 UTSW 9 104,954,294 (GRCm39) missense probably benign 0.03
R8219:Mrpl3 UTSW 9 104,934,271 (GRCm39) missense possibly damaging 0.48
RF016:Mrpl3 UTSW 9 104,952,452 (GRCm39) missense probably benign 0.31
Posted On 2015-04-16