Incidental Mutation 'IGL03188:Mrpl3'
ID412514
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? Essential (E-score: 1.000) question?
Stock #IGL03188
Quality Score
Status
Chromosome9
Chromosomal Location105053239-105079888 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105057065 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 137 (D137G)
Ref Sequence ENSEMBL: ENSMUSP00000120313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035177] [ENSMUST00000131655] [ENSMUST00000142424] [ENSMUST00000149243] [ENSMUST00000190492] [ENSMUST00000214036]
Predicted Effect probably benign
Transcript: ENSMUST00000035177
AA Change: D137G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000035177
Gene: ENSMUSG00000032563
AA Change: D137G

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 1 119 1.1e-13 PFAM
Pfam:Ribosomal_L3 112 340 2e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131655
AA Change: D137G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000120313
Gene: ENSMUSG00000032563
AA Change: D137G

DomainStartEndE-ValueType
PDB:4CE4|E 1 148 1e-82 PDB
SCOP:d1jj2b_ 90 148 5e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142424
Predicted Effect probably benign
Transcript: ENSMUST00000149243
AA Change: D137G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000117547
Gene: ENSMUSG00000032563
AA Change: D137G

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

DomainStartEndE-ValueType
PDB:4CE4|E 1 37 2e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000214036
AA Change: D129G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,971,225 Y186C possibly damaging Het
Adamts18 C A 8: 113,699,024 C1202F probably damaging Het
Ago2 C T 15: 73,123,333 V466I probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aptx A T 4: 40,695,143 probably null Het
Aurka A T 2: 172,363,768 D123E possibly damaging Het
AW549877 A G 15: 3,988,705 Y163H probably damaging Het
Btaf1 T C 19: 36,949,108 I60T possibly damaging Het
Ccdc154 A T 17: 25,164,093 probably null Het
Cct5 T C 15: 31,598,002 N55S probably benign Het
Cntnap3 A G 13: 64,781,745 S547P probably damaging Het
Efl1 T A 7: 82,671,701 I114N probably damaging Het
Gprin1 T C 13: 54,738,652 D603G probably benign Het
Il16 A G 7: 83,688,163 S115P probably benign Het
Kalrn C A 16: 34,314,192 V401L probably benign Het
Kcnq4 T A 4: 120,704,426 K482I possibly damaging Het
L3mbtl3 C T 10: 26,342,617 A114T unknown Het
Lig1 G A 7: 13,311,107 probably benign Het
Lnx1 G A 5: 74,620,263 T199M probably damaging Het
Mapk13 A G 17: 28,776,583 probably benign Het
Mfsd2b A T 12: 4,866,538 probably null Het
Muc15 A G 2: 110,731,699 D160G probably benign Het
Myh4 T C 11: 67,246,543 probably null Het
Nipa2 T G 7: 55,932,932 N355T probably benign Het
Olfr1396 T C 11: 49,113,709 N6D probably damaging Het
Olfr484 T C 7: 108,124,634 T210A probably benign Het
Olfr644 A G 7: 104,068,738 S98P possibly damaging Het
Olfr749 A T 14: 50,736,858 Y101* probably null Het
Pfkm G T 15: 98,123,243 probably null Het
Ppip5k1 A G 2: 121,326,846 probably benign Het
Ppp1r18 A G 17: 35,867,965 D244G possibly damaging Het
Scn2a T C 2: 65,671,653 S107P probably damaging Het
Scn5a A T 9: 119,522,566 I783N probably damaging Het
Snx1 A G 9: 66,094,452 W307R probably damaging Het
Stk11ip G A 1: 75,534,435 V928M probably benign Het
Tgm4 A G 9: 123,045,036 M114V probably null Het
Trpm2 G A 10: 77,918,909 R1248C probably benign Het
Txnrd1 T C 10: 82,885,046 I347T possibly damaging Het
Unc5a A G 13: 54,999,503 S106G probably damaging Het
Vmn2r85 T C 10: 130,418,743 M691V probably benign Het
Zfp58 T A 13: 67,491,409 Q321L probably benign 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
IGL02727:Mrpl3 APN 9 105054527 missense probably damaging 0.99
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
RF016:Mrpl3 UTSW 9 105075253 missense probably benign 0.31
Posted On2016-08-02