Incidental Mutation 'IGL01153:Mrpl18'
ID 53133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl18
Ensembl Gene ENSMUSG00000057388
Gene Name mitochondrial ribosomal protein L18
Synonyms 1010001C05Rik, MRP-L18, HSPC071
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01153
Quality Score
Status
Chromosome 17
Chromosomal Location 13130236-13135232 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13134693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 24 (L24P)
Ref Sequence ENSEMBL: ENSMUSP00000078123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079121] [ENSMUST00000089024] [ENSMUST00000143961] [ENSMUST00000151287]
AlphaFold Q9CQL5
Predicted Effect possibly damaging
Transcript: ENSMUST00000079121
AA Change: L24P

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000078123
Gene: ENSMUSG00000057388
AA Change: L24P

DomainStartEndE-ValueType
PDB:4CE4|S 1 180 1e-108 PDB
SCOP:d1jj2m_ 78 141 2e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083171
Predicted Effect probably benign
Transcript: ENSMUST00000089024
SMART Domains Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 1 486 1.9e-132 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133003
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159765
Predicted Effect probably benign
Transcript: ENSMUST00000143961
SMART Domains Protein: ENSMUSP00000116511
Gene: ENSMUSG00000068039

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 28 103 1.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151287
SMART Domains Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 28 535 6.3e-156 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a protein component of the larger 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative splicing results in multiple transcript variants, most of which are not predicted to encode a protein. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,567,247 (GRCm39) I5309V probably benign Het
Amy1 A G 3: 113,349,724 (GRCm39) V482A possibly damaging Het
Ankrd22 A T 19: 34,106,229 (GRCm39) V81E probably damaging Het
Ccr5 C A 9: 123,924,649 (GRCm39) T84K probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Chchd3 A T 6: 32,985,502 (GRCm39) probably benign Het
Cpt1c C T 7: 44,616,092 (GRCm39) E307K probably damaging Het
Cyth2 T C 7: 45,457,813 (GRCm39) Y120C probably damaging Het
Dnajb11 T A 16: 22,681,430 (GRCm39) D69E probably benign Het
Ece2 T A 16: 20,451,544 (GRCm39) M215K possibly damaging Het
Enox2 C A X: 48,151,015 (GRCm39) probably null Het
Fam120c T C X: 150,182,801 (GRCm39) probably null Het
Fam149b A G 14: 20,427,949 (GRCm39) T319A possibly damaging Het
Fndc1 A T 17: 7,998,874 (GRCm39) probably null Het
Gcsh T A 8: 117,710,549 (GRCm39) D138V probably benign Het
Herc3 T A 6: 58,837,321 (GRCm39) H331Q probably benign Het
Iars1 A G 13: 49,865,281 (GRCm39) N586D probably damaging Het
Idh3g A G X: 72,823,668 (GRCm39) V280A probably damaging Het
Kctd18 A G 1: 58,004,550 (GRCm39) S115P probably damaging Het
Lims2 A G 18: 32,090,370 (GRCm39) probably null Het
Lyset T A 12: 102,711,135 (GRCm39) Y119* probably null Het
Mael T C 1: 166,029,919 (GRCm39) K334E possibly damaging Het
Me3 A C 7: 89,498,844 (GRCm39) T475P probably damaging Het
Nol4 C A 18: 22,902,850 (GRCm39) R460L probably damaging Het
Numa1 A T 7: 101,643,951 (GRCm39) E181V probably damaging Het
Or6c2 T A 10: 129,362,864 (GRCm39) I256N probably damaging Het
Pex2 A T 3: 5,626,424 (GRCm39) H128Q probably benign Het
Pex3 A T 10: 13,428,597 (GRCm39) probably null Het
Psmb8 A G 17: 34,420,215 (GRCm39) Y269C possibly damaging Het
Sh2d3c A G 2: 32,615,096 (GRCm39) K62R probably benign Het
Strn4 G A 7: 16,571,846 (GRCm39) G613D probably damaging Het
Taok2 A G 7: 126,470,204 (GRCm39) W875R probably damaging Het
Tbc1d4 T C 14: 101,845,451 (GRCm39) D149G possibly damaging Het
Zfp473 A G 7: 44,383,992 (GRCm39) S113P probably damaging Het
Zfp768 A G 7: 126,943,703 (GRCm39) Y145H possibly damaging Het
Zgrf1 G A 3: 127,396,055 (GRCm39) G534R probably damaging Het
Other mutations in Mrpl18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01677:Mrpl18 APN 17 13,130,575 (GRCm39) missense probably damaging 1.00
R2169:Mrpl18 UTSW 17 13,132,655 (GRCm39) critical splice donor site probably null
R5090:Mrpl18 UTSW 17 13,132,697 (GRCm39) missense probably damaging 0.98
R7059:Mrpl18 UTSW 17 13,132,668 (GRCm39) missense possibly damaging 0.70
R8154:Mrpl18 UTSW 17 13,130,608 (GRCm39) missense probably damaging 1.00
R9032:Mrpl18 UTSW 17 13,134,582 (GRCm39) missense probably damaging 0.99
R9085:Mrpl18 UTSW 17 13,134,582 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21