Incidental Mutation 'R2909:Mrps11'
ID 261138
Institutional Source Beutler Lab
Gene Symbol Mrps11
Ensembl Gene ENSMUSG00000030611
Gene Name mitochondrial ribosomal protein S11
Synonyms
MMRRC Submission 040496-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R2909 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 78432879-78442736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 78438497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 83 (A83E)
Ref Sequence ENSEMBL: ENSMUSP00000032840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032840] [ENSMUST00000133553]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032840
AA Change: A83E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032840
Gene: ENSMUSG00000030611
AA Change: A83E

DomainStartEndE-ValueType
Pfam:Ribosomal_S11 81 190 1.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133304
Predicted Effect probably benign
Transcript: ENSMUST00000133553
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136001
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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 28S subunit protein that contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 G A 2: 158,467,140 (GRCm39) G27R possibly damaging Het
Bltp1 A G 3: 37,002,102 (GRCm39) D1349G probably damaging Het
Chrm3 G T 13: 9,928,033 (GRCm39) D334E probably benign Het
Clic5 A C 17: 44,586,146 (GRCm39) T212P probably benign Het
Dapk1 G A 13: 60,864,631 (GRCm39) probably null Het
Dync2h1 A T 9: 7,049,114 (GRCm39) L3262H probably damaging Het
Epg5 G C 18: 78,026,691 (GRCm39) W1227C probably damaging Het
Fancm T C 12: 65,171,630 (GRCm39) S1757P probably damaging Het
Gm3604 G C 13: 62,516,832 (GRCm39) H509D probably benign Het
Gramd4 G T 15: 86,006,384 (GRCm39) E163* probably null Het
Hip1r T A 5: 124,138,656 (GRCm39) probably null Het
Ice1 G T 13: 70,744,292 (GRCm39) T2097K probably damaging Het
Il12a TCAC TC 3: 68,605,320 (GRCm39) probably null Het
Kbtbd7 A G 14: 79,665,922 (GRCm39) T585A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnq3 T C 15: 65,897,085 (GRCm39) T272A possibly damaging Het
Ly6l T G 15: 75,321,481 (GRCm39) probably null Het
Minar1 T C 9: 89,473,331 (GRCm39) N860S probably damaging Het
Or1af1 C T 2: 37,110,188 (GRCm39) P229L probably damaging Het
Pax7 T C 4: 139,556,007 (GRCm39) I156V possibly damaging Het
Plbd1 A T 6: 136,611,572 (GRCm39) V235D probably damaging Het
Pml T C 9: 58,154,526 (GRCm39) S76G possibly damaging Het
Ppp1r42 T A 1: 10,073,637 (GRCm39) probably benign Het
Rsl24d1 T C 9: 73,029,585 (GRCm39) L61S probably damaging Het
Rtp2 T C 16: 23,746,235 (GRCm39) E132G probably damaging Het
Sgk1 A G 10: 21,870,715 (GRCm39) I23V probably benign Het
Sharpin A G 15: 76,234,811 (GRCm39) probably benign Het
Sipa1l1 T A 12: 82,404,105 (GRCm39) Y533N probably benign Het
Slc12a9 T C 5: 137,330,463 (GRCm39) I81V probably benign Het
Stxbp5l G A 16: 37,028,548 (GRCm39) T505M possibly damaging Het
Tmem40 A G 6: 115,713,342 (GRCm39) probably null Het
Tnfrsf18 A T 4: 156,112,727 (GRCm39) N138Y probably damaging Het
Vmn2r87 A T 10: 130,314,865 (GRCm39) N240K probably damaging Het
Vmn2r91 A G 17: 18,356,661 (GRCm39) E776G probably damaging Het
Vmn2r92 T A 17: 18,405,377 (GRCm39) N840K possibly damaging Het
Vmn2r98 T C 17: 19,287,664 (GRCm39) I499T probably damaging Het
Other mutations in Mrps11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02642:Mrps11 APN 7 78,438,522 (GRCm39) critical splice donor site probably null
IGL03325:Mrps11 APN 7 78,440,453 (GRCm39) missense probably damaging 1.00
R0831:Mrps11 UTSW 7 78,441,611 (GRCm39) splice site probably benign
R1432:Mrps11 UTSW 7 78,433,310 (GRCm39) splice site probably benign
R1733:Mrps11 UTSW 7 78,442,460 (GRCm39) missense probably damaging 1.00
R3852:Mrps11 UTSW 7 78,440,393 (GRCm39) missense probably damaging 1.00
R4623:Mrps11 UTSW 7 78,441,689 (GRCm39) critical splice donor site probably null
R5685:Mrps11 UTSW 7 78,441,628 (GRCm39) missense probably benign 0.06
R5752:Mrps11 UTSW 7 78,433,343 (GRCm39) missense probably benign 0.05
R6091:Mrps11 UTSW 7 78,438,466 (GRCm39) missense possibly damaging 0.87
R8184:Mrps11 UTSW 7 78,433,125 (GRCm39) missense possibly damaging 0.65
R8762:Mrps11 UTSW 7 78,438,487 (GRCm39) missense possibly damaging 0.49
R9178:Mrps11 UTSW 7 78,440,444 (GRCm39) missense probably damaging 1.00
R9453:Mrps11 UTSW 7 78,442,390 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTTGGCTCACAGTATTCAAC -3'
(R):5'- GCTAGCATAGGAGTCCCAAG -3'

Sequencing Primer
(F):5'- GTTTCTTCTGATTGCAGCC -3'
(R):5'- GGACGGCAGAAACCCTTAC -3'
Posted On 2015-01-23