Incidental Mutation 'IGL00430:Mrpl13'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl13
Ensembl Gene ENSMUSG00000022370
Gene Namemitochondrial ribosomal protein L13
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #IGL00430
Quality Score
Chromosomal Location55534094-55557748 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 55540201 bp
Amino Acid Change Lysine to Asparagine at position 105 (K105N)
Ref Sequence ENSEMBL: ENSMUSP00000130722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164542] [ENSMUST00000165356] [ENSMUST00000172387]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107207
Predicted Effect probably benign
Transcript: ENSMUST00000164542
SMART Domains Protein: ENSMUSP00000127456
Gene: ENSMUSG00000022370

Pfam:Ribosomal_L13 18 55 2.6e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165356
AA Change: K31N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125887
Gene: ENSMUSG00000022370
AA Change: K31N

Pfam:Ribosomal_L13 1 72 5.6e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172387
AA Change: K105N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130722
Gene: ENSMUSG00000022370
AA Change: K105N

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,784,202 S17N probably benign Het
Atp2a1 C T 7: 126,447,216 W72* probably null Het
Baz2b C A 2: 59,912,795 A1611S probably benign Het
Cep290 A T 10: 100,508,724 I475L probably benign Het
Cpsf4l C T 11: 113,709,218 probably benign Het
Crispld2 A T 8: 120,033,560 R408S probably damaging Het
Cyp3a25 A T 5: 145,993,360 M145K probably damaging Het
Dexi A T 16: 10,542,445 D82E probably benign Het
Epyc A T 10: 97,681,147 K282N probably benign Het
Ercc6l2 G T 13: 63,858,319 V588F probably damaging Het
Galnt14 C T 17: 73,494,232 V532I probably damaging Het
Grk1 C A 8: 13,413,128 Y383* probably null Het
Gtpbp1 G T 15: 79,719,136 G609W possibly damaging Het
Hadha C T 5: 30,120,147 V682M possibly damaging Het
Igdcc3 A C 9: 65,182,019 D499A probably damaging Het
Kcna10 T G 3: 107,194,728 V225G probably damaging Het
Kcnh4 T C 11: 100,757,654 T75A possibly damaging Het
Lama4 A G 10: 39,045,704 E407G possibly damaging Het
Pcdhb2 A T 18: 37,296,463 probably null Het
Pck2 C T 14: 55,543,944 A209V probably benign Het
Plce1 A G 19: 38,725,017 E1243G probably damaging Het
Plekhh2 A T 17: 84,521,775 M25L probably benign Het
Rasef G A 4: 73,771,425 Q117* probably null Het
Rbm14 A G 19: 4,811,426 V28A probably damaging Het
Rcan2 A G 17: 43,836,384 T38A probably benign Het
Rin1 A G 19: 5,051,376 N96S probably benign Het
Rrp12 A G 19: 41,877,334 probably null Het
Slco1a6 A T 6: 142,101,651 C404* probably null Het
St6galnac3 T C 3: 153,509,403 N38S probably benign Het
Top2b T A 14: 16,422,692 S1376R probably benign Het
Trip11 T C 12: 101,886,147 I553V probably benign Het
Trip12 T G 1: 84,763,861 H559P probably damaging Het
Uggt2 A T 14: 119,026,429 L1063* probably null Het
Zmym6 T A 4: 127,101,949 C269* probably null Het
Other mutations in Mrpl13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02659:Mrpl13 APN 15 55557739 critical splice donor site probably null
IGL02878:Mrpl13 APN 15 55540199 nonsense probably null
R0488:Mrpl13 UTSW 15 55539148 missense probably benign 0.01
R1419:Mrpl13 UTSW 15 55534321 missense probably benign
R2291:Mrpl13 UTSW 15 55548219 missense probably damaging 1.00
R8333:Mrpl13 UTSW 15 55557283 start codon destroyed probably null 0.54
Posted On2012-04-20