Incidental Mutation 'R1419:Mrpl13'
ID 160006
Institutional Source Beutler Lab
Gene Symbol Mrpl13
Ensembl Gene ENSMUSG00000022370
Gene Name mitochondrial ribosomal protein L13
Synonyms 1110002D09Rik
MMRRC Submission 039475-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R1419 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 55397491-55420708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55397717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 178 (M178L)
Ref Sequence ENSEMBL: ENSMUSP00000130722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164542] [ENSMUST00000165356] [ENSMUST00000172387]
AlphaFold Q9D1P0
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: ENSMUST00000165356
SMART Domains Protein: ENSMUSP00000125887
Gene: ENSMUSG00000022370

DomainStartEndE-ValueType
Pfam:Ribosomal_L13 1 72 5.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172387
AA Change: M178L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130722
Gene: ENSMUSG00000022370
AA Change: M178L

DomainStartEndE-ValueType
Pfam:Ribosomal_L13 17 141 2.8e-47 PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 119,974,125 (GRCm39) M894K probably benign Het
Ablim1 C A 19: 57,123,065 (GRCm39) C173F probably damaging Het
Abtb2 G T 2: 103,539,765 (GRCm39) R710L probably benign Het
Arap3 T C 18: 38,111,485 (GRCm39) T1144A possibly damaging Het
Arhgef12 A T 9: 42,938,516 (GRCm39) V92D probably damaging Het
Ash1l T G 3: 88,892,204 (GRCm39) M1361R probably damaging Het
Atm A C 9: 53,368,789 (GRCm39) N2337K probably benign Het
Cog7 T C 7: 121,555,215 (GRCm39) E316G probably damaging Het
Dsp A G 13: 38,370,671 (GRCm39) Y858C probably damaging Het
Enc1 G T 13: 97,382,692 (GRCm39) G401C probably damaging Het
Gata6 T C 18: 11,064,706 (GRCm39) V506A probably benign Het
Gm16380 C T 9: 53,791,471 (GRCm39) noncoding transcript Het
Hsd17b8 G A 17: 34,246,617 (GRCm39) R89C probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ift80 T A 3: 68,847,531 (GRCm39) N322Y probably damaging Het
Igsf9 T A 1: 172,325,578 (GRCm39) V1082E probably damaging Het
Katnal2 A T 18: 77,065,128 (GRCm39) L481Q possibly damaging Het
Kcnma1 T C 14: 23,417,710 (GRCm39) T713A probably damaging Het
Kif13a T C 13: 46,978,711 (GRCm39) T230A probably damaging Het
Klhl14 C A 18: 21,785,250 (GRCm39) R59L probably damaging Het
Mecom A G 3: 30,035,038 (GRCm39) C213R probably damaging Het
Myof T C 19: 37,890,359 (GRCm39) E1971G probably damaging Het
Naa10 A G X: 72,961,522 (GRCm39) V133A probably damaging Het
Nlrp4g G A 9: 124,349,434 (GRCm38) noncoding transcript Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Oplah T C 15: 76,182,120 (GRCm39) I1047V probably benign Het
Or4a15 T C 2: 89,193,666 (GRCm39) T36A probably damaging Het
Or4k47 A T 2: 111,451,640 (GRCm39) F260I probably benign Het
Or5al1 A G 2: 85,989,773 (GRCm39) *314Q probably null Het
Paip1 A G 13: 119,593,553 (GRCm39) D189G probably damaging Het
Pkn1 A G 8: 84,400,151 (GRCm39) F624L probably damaging Het
Plxnb1 C A 9: 108,943,454 (GRCm39) P1899H probably damaging Het
Rpa3 T A 6: 8,257,720 (GRCm39) E47D probably benign Het
Shoc1 T C 4: 59,064,457 (GRCm39) T826A possibly damaging Het
Snai2 C T 16: 14,526,044 (GRCm39) H232Y possibly damaging Het
Spint5 T C 2: 164,557,331 (GRCm39) S23P possibly damaging Het
St8sia2 G A 7: 73,616,742 (GRCm39) Q78* probably null Het
Tktl2 A G 8: 66,965,690 (GRCm39) N416S probably damaging Het
Tm7sf3 T A 6: 146,505,475 (GRCm39) I494F possibly damaging Het
Trf C T 9: 103,103,307 (GRCm39) V119M probably damaging Het
Other mutations in Mrpl13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Mrpl13 APN 15 55,403,597 (GRCm39) missense probably damaging 0.98
IGL02659:Mrpl13 APN 15 55,421,135 (GRCm39) critical splice donor site probably null
IGL02878:Mrpl13 APN 15 55,403,595 (GRCm39) nonsense probably null
R0488:Mrpl13 UTSW 15 55,402,544 (GRCm39) missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- GCAGGTTACACAGGACTTGTCTGTAAA -3'
(R):5'- CTGGGTATGAACAGATCAGCACCAC -3'

Sequencing Primer
(F):5'- CAGGACTTGTCTGTAAAACAGTATC -3'
(R):5'- gcacctctacccattgacc -3'
Posted On 2014-03-14