Incidental Mutation 'R5752:Mrps11'
Institutional Source Beutler Lab
Gene Symbol Mrps11
Ensembl Gene ENSMUSG00000030611
Gene Namemitochondrial ribosomal protein S11
MMRRC Submission 043357-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock #R5752 (G1)
Quality Score225
Status Validated
Chromosomal Location78783119-78792989 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78783595 bp
Amino Acid Change Lysine to Glutamic Acid at position 30 (K30E)
Ref Sequence ENSEMBL: ENSMUSP00000146020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032840] [ENSMUST00000032841] [ENSMUST00000133553]
Predicted Effect probably benign
Transcript: ENSMUST00000032840
AA Change: K30E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000032840
Gene: ENSMUSG00000030611
AA Change: K30E

Pfam:Ribosomal_S11 81 190 1.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000032841
SMART Domains Protein: ENSMUSP00000032841
Gene: ENSMUSG00000030612

Pfam:MRP-L46 43 139 2e-22 PFAM
SCOP:d1ktga_ 152 276 1e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133304
Predicted Effect probably benign
Transcript: ENSMUST00000133553
AA Change: K30E

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136001
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (58/59)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik T C 13: 59,743,202 Y268C probably damaging Het
A330017A19Rik C A 17: 46,890,040 probably benign Het
Aldh1l2 C A 10: 83,520,380 G49C probably damaging Het
Arhgap26 G A 18: 39,286,672 E11K probably damaging Het
Asns C T 6: 7,689,365 G46S probably damaging Het
Atrn G T 2: 130,906,544 probably benign Het
C77080 GGTG GGTGTG 4: 129,223,980 probably null Het
Cep126 A C 9: 8,120,745 Y92* probably null Het
Cfap69 T C 5: 5,589,204 T567A probably damaging Het
Clgn T A 8: 83,397,041 Y61N probably damaging Het
Col28a1 T G 6: 8,015,025 K793N possibly damaging Het
Cxcl9 C A 5: 92,323,856 M108I probably benign Het
Cyp4f37 A T 17: 32,631,332 I318F probably damaging Het
Daam1 T C 12: 71,946,546 M363T unknown Het
Dnajc13 A C 9: 104,192,774 probably null Het
Entpd2 G A 2: 25,399,769 probably benign Het
F3 T A 3: 121,732,404 N205K probably damaging Het
Fat2 A T 11: 55,289,237 F1426Y possibly damaging Het
Galnt6 A T 15: 100,704,126 F267I probably damaging Het
Gm1322 G A 2: 67,184,635 noncoding transcript Het
Gm6768 A G 12: 119,262,614 noncoding transcript Het
Gm960 C A 19: 4,626,020 A695S probably benign Het
Hdgfl3 A C 7: 81,899,703 S143A possibly damaging Het
Ints7 T A 1: 191,575,893 D12E probably benign Het
Kank3 A G 17: 33,818,063 T114A probably benign Het
Lrp1b A G 2: 41,295,612 Y1364H probably damaging Het
Mef2b A G 8: 70,165,617 T116A possibly damaging Het
Megf8 C T 7: 25,355,114 T1885I probably damaging Het
Naca T A 10: 128,041,928 probably benign Het
Olfr521 T C 7: 99,767,948 I262T probably benign Het
Paip2b C T 6: 83,831,270 probably null Het
Plcb2 G T 2: 118,711,051 probably benign Het
Plcd4 A G 1: 74,547,972 probably null Het
Pnpla8 A G 12: 44,282,887 N74S probably benign Het
Pot1b A T 17: 55,687,834 I276N probably damaging Het
Qprt C T 7: 127,109,244 G5D probably benign Het
Rab11fip1 T C 8: 27,156,586 N154S probably damaging Het
Rin3 G A 12: 102,313,119 probably benign Het
Sdf4 C T 4: 155,996,304 P37S probably damaging Het
Selp A T 1: 164,137,242 D491V probably damaging Het
Sh3gl3 A G 7: 82,174,948 probably benign Het
Sp110 G C 1: 85,577,202 probably benign Het
Tas2r134 A G 2: 51,627,868 R120G probably damaging Het
Tgfbr3 T C 5: 107,139,807 R509G probably benign Het
Tle3 T A 9: 61,407,471 Y231N probably damaging Het
Ttc41 C T 10: 86,758,346 T881I probably benign Het
Ttll8 T C 15: 88,932,728 Y271C probably benign Het
Ttn A T 2: 76,947,984 I1307K possibly damaging Het
Ube2k A G 5: 65,566,068 D48G probably damaging Het
Vcan T C 13: 89,679,950 T3126A probably damaging Het
Vps13d T C 4: 145,148,970 T1656A probably benign Het
Zzz3 C A 3: 152,452,122 S777R possibly damaging Het
Other mutations in Mrps11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02642:Mrps11 APN 7 78788774 critical splice donor site probably null
IGL03325:Mrps11 APN 7 78790705 missense probably damaging 1.00
R0831:Mrps11 UTSW 7 78791863 splice site probably benign
R1432:Mrps11 UTSW 7 78783562 splice site probably benign
R1733:Mrps11 UTSW 7 78792712 missense probably damaging 1.00
R2909:Mrps11 UTSW 7 78788749 missense probably damaging 1.00
R3852:Mrps11 UTSW 7 78790645 missense probably damaging 1.00
R4623:Mrps11 UTSW 7 78791941 critical splice donor site probably null
R5685:Mrps11 UTSW 7 78791880 missense probably benign 0.06
R6091:Mrps11 UTSW 7 78788718 missense possibly damaging 0.87
R8184:Mrps11 UTSW 7 78783377 missense possibly damaging 0.65
R8762:Mrps11 UTSW 7 78788739 missense possibly damaging 0.49
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-11-21