Incidental Mutation 'IGL02825:Mrpl19'
ID 361171
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 # IGL02825
Quality Score
Chromosome 6
Chromosomal Location 81957851-81965958 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 81965815 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 38 (T38K)
Ref Sequence ENSEMBL: ENSMUSP00000032124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032124]
AlphaFold Q9D338
Predicted Effect probably benign
Transcript: ENSMUST00000032124
AA Change: T38K

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032124
Gene: ENSMUSG00000030045
AA Change: T38K

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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo A G 2: 26,843,698 (GRCm38) V163A possibly damaging Het
Ap1b1 G T 11: 5,033,738 (GRCm38) A664S possibly damaging Het
B3gnt4 T C 5: 123,511,051 (GRCm38) F160L possibly damaging Het
Brd3 T C 2: 27,449,263 (GRCm38) E685G probably damaging Het
Cacna2d2 C T 9: 107,524,460 (GRCm38) R746C probably damaging Het
Ces1d C A 8: 93,169,718 (GRCm38) probably null Het
Chl1 T A 6: 103,668,803 (GRCm38) V268E possibly damaging Het
Cpb1 T A 3: 20,249,725 (GRCm38) I392F probably damaging Het
Dnai1 T C 4: 41,625,101 (GRCm38) probably benign Het
Dync2h1 T C 9: 6,955,901 (GRCm38) probably benign Het
Edc4 T C 8: 105,890,611 (GRCm38) S1021P probably damaging Het
Exoc7 A C 11: 116,297,585 (GRCm38) L296R probably damaging Het
Fgd5 A G 6: 92,038,087 (GRCm38) probably null Het
Gm28042 T A 2: 120,031,644 (GRCm38) M232K probably damaging Het
Ints1 A T 5: 139,764,739 (GRCm38) S888T probably benign Het
Kirrel1 A T 3: 87,089,288 (GRCm38) probably benign Het
Lrp1 C T 10: 127,542,605 (GRCm38) R4037Q probably damaging Het
Lrrc37 G A 11: 103,617,068 (GRCm38) probably benign Het
Lrrn3 A T 12: 41,452,593 (GRCm38) V575D probably damaging Het
Mapk11 A G 15: 89,146,382 (GRCm38) Y103H probably damaging Het
Nefl A T 14: 68,084,346 (GRCm38) K128N possibly damaging Het
Olfm1 A G 2: 28,229,078 (GRCm38) N242D probably damaging Het
Oprd1 T A 4: 132,117,359 (GRCm38) T113S probably damaging Het
Or10d1 A T 9: 39,572,581 (GRCm38) I226N probably damaging Het
Or52s19 T C 7: 103,358,361 (GRCm38) I278V probably benign Het
Pds5b C T 5: 150,728,970 (GRCm38) T234I possibly damaging Het
Prpf3 A T 3: 95,853,480 (GRCm38) C37S probably damaging Het
Rpgrip1l G A 8: 91,304,805 (GRCm38) T148M possibly damaging Het
Rph3a T C 5: 120,945,446 (GRCm38) K587R possibly damaging Het
Scn3b T C 9: 40,277,145 (GRCm38) C5R probably damaging Het
Sirpa C T 2: 129,615,452 (GRCm38) P149S probably damaging Het
Slco1a1 A T 6: 141,918,617 (GRCm38) C486S probably damaging Het
Spin1 C A 13: 51,123,296 (GRCm38) probably benign Het
Stom C A 2: 35,321,632 (GRCm38) V126F probably damaging Het
Tom1 A G 8: 75,057,255 (GRCm38) D64G probably damaging Het
Trbv4 T A 6: 41,059,679 (GRCm38) L46Q probably damaging Het
Trhr A T 15: 44,229,525 (GRCm38) D386V possibly damaging Het
Vmn2r101 T A 17: 19,589,870 (GRCm38) I306N probably benign Het
Vmn2r51 C T 7: 10,098,119 (GRCm38) probably benign Het
Vmn2r63 A G 7: 42,926,850 (GRCm38) probably null Het
Zfp277 T C 12: 40,317,176 (GRCm38) K494E probably benign Het
Zranb3 A T 1: 127,959,752 (GRCm38) S979R 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
IGL02256:Mrpl19 APN 6 81,964,319 (GRCm38) missense probably benign 0.06
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
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 2015-12-18