Incidental Mutation 'IGL02727:Mrpl3'
ID305259
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl3
Ensembl Gene ENSMUSG00000032563
Gene Namemitochondrial ribosomal protein L3
Synonyms2010320L16Rik, 5930422H18Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.883) question?
Stock #IGL02727
Quality Score
Status
Chromosome9
Chromosomal Location105053239-105079888 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 105054527 bp
ZygosityHeterozygous
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]
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: 53,187,565 T13A probably benign Het
Aldh1l2 T A 10: 83,506,605 K447I probably damaging Het
Ankrd17 A G 5: 90,244,292 S1840P possibly damaging Het
Ash1l A G 3: 89,023,037 I1940M probably benign Het
Bfar T G 16: 13,688,927 probably null Het
Bicra G T 7: 15,979,465 H937Q possibly damaging Het
Brip1 A T 11: 86,152,736 M334K probably benign Het
Camsap2 T G 1: 136,304,312 M182L probably benign Het
Ccdc144b T A 3: 36,032,916 R176S possibly damaging Het
Chd6 A T 2: 160,969,463 C1407S probably damaging Het
Cmya5 A G 13: 93,098,245 S112P possibly damaging Het
Csmd1 A T 8: 16,231,327 V728E probably damaging Het
Cyp2j6 T A 4: 96,545,764 Q103L probably benign Het
Ddias A T 7: 92,866,622 I21K probably damaging Het
Derl2 A C 11: 71,013,210 probably benign Het
Dgka A T 10: 128,722,448 probably benign Het
Dusp11 T C 6: 85,961,492 D15G probably damaging Het
Enpp2 T C 15: 54,910,181 D110G probably damaging Het
Fkbp11 A T 15: 98,724,590 V134E probably damaging Het
Gm3248 T C 14: 5,945,036 T49A probably damaging Het
Lrmp T C 6: 145,174,618 S520P possibly damaging Het
Luzp2 T C 7: 55,172,191 probably benign Het
Manea T A 4: 26,328,126 E305V probably damaging Het
Manea C A 4: 26,328,127 E305* probably null Het
Megf6 A G 4: 154,253,149 probably null Het
Myh9 T C 15: 77,791,742 Y248C probably benign Het
Nbeal2 G A 9: 110,639,285 probably benign Het
Olfr1386 G T 11: 49,471,066 G305V probably benign Het
Olfr161 T A 16: 3,593,326 I310K probably benign Het
Olfr713 G T 7: 107,036,695 C180F probably damaging Het
Olfr889 A G 9: 38,116,512 T239A probably damaging Het
Pax8 C A 2: 24,441,630 C147F probably damaging Het
Phf12 T C 11: 78,023,667 V96A possibly damaging Het
Psg18 A T 7: 18,345,950 I442K probably damaging Het
Pygl T A 12: 70,207,668 probably null Het
Rassf2 C A 2: 132,004,387 R150L probably benign Het
Rdh7 A T 10: 127,887,618 W123R probably damaging Het
Saal1 T C 7: 46,689,799 probably null Het
Sall1 T C 8: 89,030,755 D907G probably damaging Het
Spag1 T A 15: 36,234,818 F876I probably damaging Het
Syncrip G A 9: 88,479,879 A61V probably damaging Het
Trbv3 A T 6: 41,048,642 K55N probably benign Het
Vmn1r178 A G 7: 23,894,446 probably null Het
Vmn2r84 T C 10: 130,394,126 D39G possibly damaging Het
Other mutations in Mrpl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Mrpl3 APN 9 105064106 missense probably damaging 1.00
IGL00917:Mrpl3 APN 9 105057041 missense probably damaging 1.00
IGL01989:Mrpl3 APN 9 105071479 missense probably benign 0.39
IGL03188:Mrpl3 APN 9 105057065 missense probably benign 0.00
R0049:Mrpl3 UTSW 9 105055673 missense probably benign 0.06
R0049:Mrpl3 UTSW 9 105055673 missense probably benign 0.06
R0398:Mrpl3 UTSW 9 105064103 missense probably damaging 1.00
R1469:Mrpl3 UTSW 9 105077002 missense probably damaging 0.99
R1469:Mrpl3 UTSW 9 105077002 missense probably damaging 0.99
R1784:Mrpl3 UTSW 9 105057067 missense probably benign 0.00
R4026:Mrpl3 UTSW 9 105071486 critical splice donor site probably null
R4812:Mrpl3 UTSW 9 105073824 missense probably damaging 1.00
R4838:Mrpl3 UTSW 9 105057032 missense probably damaging 1.00
R5407:Mrpl3 UTSW 9 105077095 missense probably benign 0.03
Posted On2015-04-16