Incidental Mutation 'IGL00562:Mrpl19'
ID277750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl19
Ensembl Gene ENSMUSG00000030045
Gene Namemitochondrial ribosomal protein L19
SynonymsRpml15, D6Ertd157e, 9030416F12Rik, RLX1, MRP-L15
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.763) question?
Stock #IGL00562
Quality Score
Status
Chromosome6
Chromosomal Location81957851-81965958 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81965872 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 19 (V19A)
Ref Sequence ENSEMBL: ENSMUSP00000032124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032124]
Predicted Effect probably benign
Transcript: ENSMUST00000032124
AA Change: V19A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000032124
Gene: ENSMUSG00000030045
AA Change: V19A

DomainStartEndE-ValueType
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T C 5: 24,997,621 probably benign Het
AU016765 C A 17: 64,519,882 noncoding transcript Het
Chaf1b T C 16: 93,900,191 probably benign Het
Clstn2 A G 9: 97,582,452 probably benign Het
Crip1 T A 12: 113,153,612 probably null Het
Cubn A G 2: 13,294,230 S3211P probably benign Het
Dlx6 C T 6: 6,865,143 R172W probably damaging Het
Fktn A T 4: 53,747,007 probably null Het
Focad T A 4: 88,348,809 M1019K unknown Het
Fuca2 A T 10: 13,505,907 D188V probably damaging Het
Kcna3 A G 3: 107,036,730 D103G probably damaging Het
Ndufb3 T A 1: 58,595,799 H103Q possibly damaging Het
Pkd1l3 T C 8: 109,656,147 V1675A possibly damaging Het
Ptger4 A T 15: 5,243,133 S2T probably benign Het
Saxo1 C T 4: 86,445,572 E225K probably damaging Het
Sftpb G T 6: 72,309,862 A228S probably benign Het
Slc22a29 T A 19: 8,161,629 T490S probably benign Het
Slc29a1 T C 17: 45,589,992 N50S probably damaging Het
Smc6 T A 12: 11,301,531 S854T probably benign Het
Smim23 T C 11: 32,821,893 T58A probably benign Het
Tas2r134 T C 2: 51,628,088 I193T possibly damaging Het
Thsd7a G T 6: 12,379,659 probably null Het
Trav13n-4 T G 14: 53,363,966 V64G possibly damaging Het
Trmt10a G A 3: 138,147,416 E13K probably damaging Het
Txndc11 T C 16: 11,104,632 S239G probably damaging Het
Vmn2r96 T A 17: 18,583,815 N442K probably benign Het
Vps13a C T 19: 16,734,714 probably null Het
Other mutations in Mrpl19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Mrpl19 APN 6 81965872 missense probably benign 0.02
IGL02113:Mrpl19 APN 6 81965915 missense probably benign
IGL02116:Mrpl19 APN 6 81965777 missense probably benign 0.41
IGL02256:Mrpl19 APN 6 81964319 missense probably benign 0.06
IGL02347:Mrpl19 APN 6 81962011 missense probably damaging 0.99
IGL02415:Mrpl19 APN 6 81963961 missense probably benign 0.29
IGL02825:Mrpl19 APN 6 81965815 missense probably benign 0.25
IGL03189:Mrpl19 APN 6 81961993 nonsense probably null
R1824:Mrpl19 UTSW 6 81964079 splice site probably null
R2310:Mrpl19 UTSW 6 81964073 splice site probably null
R3176:Mrpl19 UTSW 6 81964066 missense probably damaging 0.99
R3276:Mrpl19 UTSW 6 81964066 missense probably damaging 0.99
R3821:Mrpl19 UTSW 6 81962006 nonsense probably null
R4705:Mrpl19 UTSW 6 81964285 missense probably damaging 0.99
R4736:Mrpl19 UTSW 6 81964348 missense probably damaging 1.00
R5464:Mrpl19 UTSW 6 81962011 missense probably damaging 0.99
Posted On2015-04-16