Incidental Mutation 'IGL00430:Mrpl13'
ID5841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl13
Ensembl Gene ENSMUSG00000022370
Gene Namemitochondrial ribosomal protein L13
Synonyms1110002D09Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #IGL00430
Quality Score
Status
Chromosome15
Chromosomal Location55534094-55557748 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 55540201 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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: 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