Incidental Mutation 'IGL02256:Mrpl19'
ID 286591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl19
Ensembl Gene ENSMUSG00000030045
Gene Name mitochondrial ribosomal protein L19
Synonyms Rpml15, D6Ertd157e, 9030416F12Rik, RLX1, MRP-L15
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # IGL02256
Quality Score
Chromosome 6
Chromosomal Location 81957851-81965958 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81964319 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 87 (T87I)
Ref Sequence ENSEMBL: ENSMUSP00000032124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032124] [ENSMUST00000043195]
AlphaFold Q9D338
Predicted Effect probably benign
Transcript: ENSMUST00000032124
AA Change: T87I

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000032124
Gene: ENSMUSG00000030045
AA Change: T87I

low complexity region 60 74 N/A INTRINSIC
Pfam:Ribosomal_L19 92 198 9e-19 PFAM
SCOP:d1fura_ 214 282 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000043195
SMART Domains Protein: ENSMUSP00000035644
Gene: ENSMUSG00000035125

low complexity region 16 24 N/A INTRINSIC
low complexity region 43 66 N/A INTRINSIC
low complexity region 97 111 N/A INTRINSIC
low complexity region 164 175 N/A INTRINSIC
low complexity region 193 210 N/A INTRINSIC
coiled coil region 255 308 N/A INTRINSIC
low complexity region 392 406 N/A INTRINSIC
Pfam:GCFC 456 672 3e-34 PFAM
low complexity region 753 763 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148025
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 T A 2: 91,769,054 (GRCm38) V173E possibly damaging Het
BC005561 T A 5: 104,520,283 (GRCm38) Y890* probably null Het
BC037034 C A 5: 138,260,315 (GRCm38) D557Y probably damaging Het
Dennd4c A G 4: 86,799,541 (GRCm38) T592A probably damaging Het
Dhcr24 G A 4: 106,572,320 (GRCm38) G197S probably damaging Het
Fat1 A G 8: 44,950,332 (GRCm38) Y40C probably damaging Het
Fbxl17 A C 17: 63,499,090 (GRCm38) C310G probably benign Het
Hdac10 T C 15: 89,125,894 (GRCm38) probably benign Het
Hist1h2bg G T 13: 23,571,435 (GRCm38) M1I probably null Het
Mcm6 A G 1: 128,335,728 (GRCm38) probably null Het
Mzf1 A G 7: 13,052,737 (GRCm38) probably benign Het
Nhlrc2 A G 19: 56,597,361 (GRCm38) E676G probably benign Het
Notch3 T C 17: 32,132,324 (GRCm38) D1899G probably damaging Het
Nxph1 A G 6: 9,247,185 (GRCm38) D52G probably benign Het
Olfr134 G T 17: 38,175,686 (GRCm38) V201L probably benign Het
Olfr171 T C 16: 19,625,006 (GRCm38) I31M probably benign Het
Olfr418 A T 1: 173,270,627 (GRCm38) I151F probably benign Het
Olfr913 G A 9: 38,594,544 (GRCm38) V108I probably benign Het
Olfr918 A T 9: 38,673,480 (GRCm38) M1K probably null Het
Olfr980 A G 9: 40,006,053 (GRCm38) F299L probably benign Het
Pax6 T C 2: 105,684,770 (GRCm38) V54A probably benign Het
Pbx1 A T 1: 168,183,602 (GRCm38) H376Q possibly damaging Het
Prpf4b T A 13: 34,899,878 (GRCm38) C877S probably damaging Het
Robo3 A G 9: 37,425,353 (GRCm38) L373P probably damaging Het
Samd9l G A 6: 3,376,197 (GRCm38) R355W probably damaging Het
Smarce1 A T 11: 99,219,380 (GRCm38) N127K possibly damaging Het
Sptbn1 T C 11: 30,120,990 (GRCm38) I1511V probably benign Het
Stab1 C T 14: 31,141,592 (GRCm38) R2071H probably damaging Het
Svep1 A T 4: 58,070,311 (GRCm38) C2492S possibly damaging Het
Tbr1 C A 2: 61,804,874 (GRCm38) T56N probably damaging Het
Tlr6 T C 5: 64,954,944 (GRCm38) T207A probably benign Het
Tmem241 A G 18: 12,113,432 (GRCm38) W54R probably damaging Het
Tmem87a A G 2: 120,377,896 (GRCm38) V326A probably damaging Het
Uroc1 A G 6: 90,346,687 (GRCm38) D372G possibly damaging Het
Zc3h7a A C 16: 11,147,276 (GRCm38) S664R probably benign Het
Other mutations in Mrpl19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Mrpl19 APN 6 81,965,872 (GRCm38) missense probably benign 0.02
IGL00563:Mrpl19 APN 6 81,965,872 (GRCm38) missense probably benign 0.02
IGL02113:Mrpl19 APN 6 81,965,915 (GRCm38) missense probably benign
IGL02116:Mrpl19 APN 6 81,965,777 (GRCm38) missense probably benign 0.41
IGL02347:Mrpl19 APN 6 81,962,011 (GRCm38) missense probably damaging 0.99
IGL02415:Mrpl19 APN 6 81,963,961 (GRCm38) missense probably benign 0.29
IGL02825:Mrpl19 APN 6 81,965,815 (GRCm38) missense probably benign 0.25
IGL03189:Mrpl19 APN 6 81,961,993 (GRCm38) nonsense probably null
R1824:Mrpl19 UTSW 6 81,964,079 (GRCm38) splice site probably null
R2310:Mrpl19 UTSW 6 81,964,073 (GRCm38) splice site probably null
R3176:Mrpl19 UTSW 6 81,964,066 (GRCm38) missense probably damaging 0.99
R3276:Mrpl19 UTSW 6 81,964,066 (GRCm38) missense probably damaging 0.99
R3821:Mrpl19 UTSW 6 81,962,006 (GRCm38) nonsense probably null
R4705:Mrpl19 UTSW 6 81,964,285 (GRCm38) missense probably damaging 0.99
R4736:Mrpl19 UTSW 6 81,964,348 (GRCm38) missense probably damaging 1.00
R5464:Mrpl19 UTSW 6 81,962,011 (GRCm38) missense probably damaging 0.99
R7408:Mrpl19 UTSW 6 81,965,812 (GRCm38) missense possibly damaging 0.65
R7835:Mrpl19 UTSW 6 81,962,126 (GRCm38) missense probably damaging 1.00
R7956:Mrpl19 UTSW 6 81,963,981 (GRCm38) missense probably benign 0.00
R8432:Mrpl19 UTSW 6 81,962,155 (GRCm38) missense probably damaging 1.00
Z1177:Mrpl19 UTSW 6 81,964,310 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16