Incidental Mutation 'P0043:Mrps27'
ID7683
Institutional Source Beutler Lab
Gene Symbol Mrps27
Ensembl Gene ENSMUSG00000041632
Gene Namemitochondrial ribosomal protein S27
Synonyms2610028H14Rik
MMRRC Submission 038291-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.932) question?
Stock #P0043 (G1)
Quality Score
Status Validated
Chromosome13
Chromosomal Location99344786-99415562 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99412246 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 297 (T297A)
Ref Sequence ENSEMBL: ENSMUSP00000062326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052249] [ENSMUST00000224660]
Predicted Effect probably benign
Transcript: ENSMUST00000052249
AA Change: T297A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062326
Gene: ENSMUSG00000041632
AA Change: T297A

DomainStartEndE-ValueType
Pfam:MRP-S27 1 413 8.3e-156 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180808
Predicted Effect probably benign
Transcript: ENSMUST00000224660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225937
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 74.1%
  • 10x: 50.1%
  • 20x: 26.7%
Validation Efficiency 74% (145/195)
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 may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chn1 A T 2: 73,624,165 V247E probably damaging Het
Col28a1 T A 6: 8,168,152 probably benign Het
Cxcl5 A G 5: 90,759,967 I85M probably damaging Het
Fnip1 A G 11: 54,503,225 E829G probably benign Het
Kctd18 G A 1: 57,967,563 R43C probably damaging Het
Kidins220 T A 12: 25,008,156 F629I probably damaging Het
Lamb1 T C 12: 31,278,621 S195P probably damaging Het
Lrrc74b A T 16: 17,558,159 probably benign Het
Mrpl30 A G 1: 37,898,178 T133A probably benign Het
Per1 G T 11: 69,102,043 probably benign Het
Ptprq C A 10: 107,580,225 M1737I probably benign Het
Ropn1l A C 15: 31,457,301 probably benign Het
Sfrp4 A G 13: 19,623,595 I55V probably benign Het
Spata31 G A 13: 64,921,006 probably null Het
Trpm6 T A 19: 18,877,765 D1929E probably damaging Het
Ttn A G 2: 76,798,014 S12855P probably damaging Het
Zscan10 C T 17: 23,609,620 R302* probably null Het
Other mutations in Mrps27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01666:Mrps27 APN 13 99409816 missense probably damaging 1.00
IGL01685:Mrps27 APN 13 99414920 missense possibly damaging 0.52
R0122:Mrps27 UTSW 13 99365228 missense probably benign 0.13
R0502:Mrps27 UTSW 13 99409795 splice site probably benign
R0503:Mrps27 UTSW 13 99409795 splice site probably benign
R0611:Mrps27 UTSW 13 99405074 missense probably damaging 1.00
R1540:Mrps27 UTSW 13 99405050 missense probably benign 0.17
R2566:Mrps27 UTSW 13 99400328 nonsense probably null
R4227:Mrps27 UTSW 13 99411340 missense probably damaging 1.00
R4235:Mrps27 UTSW 13 99405041 missense probably damaging 1.00
R4715:Mrps27 UTSW 13 99414815 unclassified probably null
R4761:Mrps27 UTSW 13 99412231 missense probably benign 0.10
R5114:Mrps27 UTSW 13 99411465 unclassified probably benign
R5294:Mrps27 UTSW 13 99409873 missense probably damaging 1.00
R6241:Mrps27 UTSW 13 99412246 missense probably benign
R6387:Mrps27 UTSW 13 99400317 missense possibly damaging 0.80
R6491:Mrps27 UTSW 13 99363030 missense probably damaging 1.00
R6992:Mrps27 UTSW 13 99405014 missense probably benign 0.16
R7165:Mrps27 UTSW 13 99414799 missense possibly damaging 0.89
R7241:Mrps27 UTSW 13 99411280 nonsense probably null
R7709:Mrps27 UTSW 13 99404996 missense probably benign 0.21
R7720:Mrps27 UTSW 13 99401330 missense unknown
Z1177:Mrps27 UTSW 13 99414843 missense possibly damaging 0.68
Posted On2012-10-29