Incidental Mutation 'IGL02659:Mrpl13'
ID 302491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl13
Ensembl Gene ENSMUSG00000022370
Gene Name mitochondrial ribosomal protein L13
Synonyms 1110002D09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL02659
Quality Score
Status
Chromosome 15
Chromosomal Location 55397491-55420708 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 55421135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022998] [ENSMUST00000164542] [ENSMUST00000170046] [ENSMUST00000172387]
AlphaFold Q9D1P0
Predicted Effect probably null
Transcript: ENSMUST00000022998
SMART Domains Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369

DomainStartEndE-ValueType
Pfam:MTBP_N 1 270 1.2e-116 PFAM
Pfam:MTBP_mid 287 626 1.4e-161 PFAM
Pfam:MTBP_C 630 884 1.3e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107207
Predicted Effect probably benign
Transcript: ENSMUST00000164542
SMART Domains Protein: ENSMUSP00000127456
Gene: ENSMUSG00000022370

DomainStartEndE-ValueType
Pfam:Ribosomal_L13 18 55 2.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169517
Predicted Effect probably null
Transcript: ENSMUST00000170046
SMART Domains Protein: ENSMUSP00000129396
Gene: ENSMUSG00000022369

DomainStartEndE-ValueType
Pfam:MTBP_N 1 276 3.4e-145 PFAM
Pfam:MTBP_mid 286 626 3.1e-171 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170135
Predicted Effect probably benign
Transcript: ENSMUST00000172387
SMART Domains Protein: ENSMUSP00000130722
Gene: ENSMUSG00000022370

DomainStartEndE-ValueType
Pfam:Ribosomal_L13 17 141 2.8e-47 PFAM
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A T 14: 29,708,298 (GRCm39) N192I probably damaging Het
Arhgap15 A T 2: 43,953,849 (GRCm39) I192F probably damaging Het
Atp10a T C 7: 58,463,379 (GRCm39) F971L probably benign Het
Cacna1e G T 1: 154,302,274 (GRCm39) F1660L probably damaging Het
Cep152 G A 2: 125,421,469 (GRCm39) T1087M probably damaging Het
Ces2b T C 8: 105,559,202 (GRCm39) probably benign Het
Col19a1 T C 1: 24,573,115 (GRCm39) D219G unknown Het
Desi2 G A 1: 178,076,843 (GRCm39) A116T probably damaging Het
Eri2 T A 7: 119,386,665 (GRCm39) Q202L probably damaging Het
Gtf2ird1 G A 5: 134,405,895 (GRCm39) P715L probably damaging Het
Higd1c A T 15: 100,281,622 (GRCm39) M249L probably benign Het
Il5ra T A 6: 106,719,644 (GRCm39) H63L possibly damaging Het
Lamb3 T A 1: 193,014,469 (GRCm39) C543S probably damaging Het
Lnpep T A 17: 17,791,162 (GRCm39) I461F possibly damaging Het
Lum A G 10: 97,404,609 (GRCm39) H168R probably benign Het
Magi1 T C 6: 93,762,591 (GRCm39) E77G possibly damaging Het
Mtpap T A 18: 4,380,703 (GRCm39) L127* probably null Het
Myo15a T C 11: 60,382,609 (GRCm39) probably benign Het
Nek1 A G 8: 61,542,514 (GRCm39) S726G probably benign Het
Nlrp5 C A 7: 23,118,006 (GRCm39) H577N probably damaging Het
Nynrin G A 14: 56,103,554 (GRCm39) probably benign Het
Or14c40 A G 7: 86,313,289 (GRCm39) M140V probably benign Het
Or2h15 C T 17: 38,441,427 (GRCm39) G219S possibly damaging Het
Pappa2 A T 1: 158,764,364 (GRCm39) D382E probably damaging Het
Plekhg1 T A 10: 3,907,069 (GRCm39) L516* probably null Het
Prune1 A G 3: 95,162,711 (GRCm39) S321P possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Thbs1 T G 2: 117,945,273 (GRCm39) V282G probably benign Het
Unc13b C T 4: 43,235,332 (GRCm39) R880C probably damaging Het
Vmn2r77 T G 7: 86,449,979 (GRCm39) I75S probably benign Het
Vps13a A T 19: 16,630,063 (GRCm39) I2690K probably damaging Het
Zfp286 T C 11: 62,674,563 (GRCm39) N94S possibly damaging Het
Other mutations in Mrpl13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Mrpl13 APN 15 55,403,597 (GRCm39) missense probably damaging 0.98
IGL02878:Mrpl13 APN 15 55,403,595 (GRCm39) nonsense probably null
R0488:Mrpl13 UTSW 15 55,402,544 (GRCm39) missense probably benign 0.01
R1419:Mrpl13 UTSW 15 55,397,717 (GRCm39) missense probably benign
R2291:Mrpl13 UTSW 15 55,411,615 (GRCm39) missense probably damaging 1.00
R8333:Mrpl13 UTSW 15 55,420,679 (GRCm39) start codon destroyed probably null 0.54
Posted On 2015-04-16