Incidental Mutation 'R6241:Mrps27'
ID 512151
Institutional Source Beutler Lab
Gene Symbol Mrps27
Ensembl Gene ENSMUSG00000041632
Gene Name mitochondrial ribosomal protein S27
Synonyms 2610028H14Rik
MMRRC Submission 044402-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # R6241 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 99481294-99552070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99548754 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BK72
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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 98% (51/52)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,623,788 (GRCm39) I385V probably benign Het
Ablim2 A G 5: 36,032,241 (GRCm39) D622G probably damaging Het
Acsbg1 A T 9: 54,549,946 (GRCm39) S86T probably damaging Het
Adam34l T A 8: 44,079,133 (GRCm39) I364L probably benign Het
Ank2 A C 3: 126,846,397 (GRCm39) D199E probably damaging Het
Art2a T A 7: 101,204,452 (GRCm39) M29L probably benign Het
Bbs2 C A 8: 94,824,863 (GRCm39) probably null Het
Brwd1 A T 16: 95,815,074 (GRCm39) I1402N probably damaging Het
C1qtnf9 C A 14: 61,017,069 (GRCm39) P200T possibly damaging Het
Ciita T C 16: 10,329,767 (GRCm39) Y684H probably damaging Het
Dennd1c T C 17: 57,373,272 (GRCm39) N734D probably benign Het
Depdc1b A T 13: 108,460,653 (GRCm39) I88F possibly damaging Het
Dsg2 A G 18: 20,723,274 (GRCm39) probably null Het
Foxp2 A G 6: 15,394,761 (GRCm39) T154A probably damaging Het
Gmeb1 A T 4: 131,969,688 (GRCm39) V95D possibly damaging Het
Gmeb1 A G 4: 131,973,324 (GRCm39) S62P probably benign Het
Golga5 T A 12: 102,438,732 (GRCm39) V149D probably damaging Het
H1f7 A C 15: 98,154,652 (GRCm39) S166A unknown Het
Hivep1 T C 13: 42,311,846 (GRCm39) L1362P probably benign Het
Ift81 T C 5: 122,740,414 (GRCm39) M205V probably benign Het
Iglv3 T A 16: 19,059,968 (GRCm39) Q120L possibly damaging Het
Ints9 C T 14: 65,217,659 (GRCm39) T62I possibly damaging Het
Itga1 G T 13: 115,096,673 (GRCm39) probably null Het
Katnip C T 7: 125,472,006 (GRCm39) H1532Y probably benign Het
Krt77 A C 15: 101,773,988 (GRCm39) I222S probably damaging Het
Mrps25 A G 6: 92,160,819 (GRCm39) probably null Het
Mup15 A T 4: 61,357,850 (GRCm39) L7Q unknown Het
Naip1 T A 13: 100,562,169 (GRCm39) I999F probably damaging Het
Ndst1 A G 18: 60,836,901 (GRCm39) F387L probably damaging Het
Nudt9 T C 5: 104,202,151 (GRCm39) S71P probably damaging Het
Or14c41 C A 7: 86,235,245 (GRCm39) A254D probably benign Het
Or2b4 A G 17: 38,116,432 (GRCm39) Y132C probably damaging Het
Or5al1 T G 2: 85,990,380 (GRCm39) E111D probably damaging Het
Pak4 C T 7: 28,264,690 (GRCm39) V71I possibly damaging Het
Pcolce A C 5: 137,603,496 (GRCm39) S446A probably benign Het
Per2 T A 1: 91,349,251 (GRCm39) N1040I probably damaging Het
Pla2g6 A T 15: 79,188,592 (GRCm39) S422T probably benign Het
Pla2r1 G T 2: 60,332,543 (GRCm39) probably null Het
Plcb4 T C 2: 135,752,094 (GRCm39) V100A possibly damaging Het
Polr1d C T 5: 147,015,533 (GRCm39) T72M probably benign Het
Psd3 A C 8: 68,270,791 (GRCm39) probably benign Het
Radil T C 5: 142,480,697 (GRCm39) E586G probably damaging Het
Rnf150 A G 8: 83,591,093 (GRCm39) N152S possibly damaging Het
Serpina1b T A 12: 103,695,515 (GRCm39) probably null Het
Setd3 C T 12: 108,124,114 (GRCm39) E192K probably benign Het
Ssu2 G A 6: 112,351,781 (GRCm39) H315Y probably damaging Het
Taok3 T A 5: 117,410,262 (GRCm39) M818K probably benign Het
Tmem131l T C 3: 83,829,471 (GRCm39) N1062S probably benign Het
Tmx4 C T 2: 134,481,425 (GRCm39) probably benign Het
Traip G A 9: 107,845,933 (GRCm39) C342Y probably benign Het
Traj9 G T 14: 54,446,890 (GRCm39) probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vegfc T C 8: 54,634,289 (GRCm39) S323P probably benign Het
Vinac1 T C 2: 128,879,301 (GRCm39) D875G possibly damaging Het
Other mutations in Mrps27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01666:Mrps27 APN 13 99,546,324 (GRCm39) missense probably damaging 1.00
IGL01685:Mrps27 APN 13 99,551,428 (GRCm39) missense possibly damaging 0.52
P0043:Mrps27 UTSW 13 99,548,754 (GRCm39) missense probably benign
R0122:Mrps27 UTSW 13 99,501,736 (GRCm39) missense probably benign 0.13
R0502:Mrps27 UTSW 13 99,546,303 (GRCm39) splice site probably benign
R0503:Mrps27 UTSW 13 99,546,303 (GRCm39) splice site probably benign
R0611:Mrps27 UTSW 13 99,541,582 (GRCm39) missense probably damaging 1.00
R1540:Mrps27 UTSW 13 99,541,558 (GRCm39) missense probably benign 0.17
R2566:Mrps27 UTSW 13 99,536,836 (GRCm39) nonsense probably null
R4227:Mrps27 UTSW 13 99,547,848 (GRCm39) missense probably damaging 1.00
R4235:Mrps27 UTSW 13 99,541,549 (GRCm39) missense probably damaging 1.00
R4715:Mrps27 UTSW 13 99,551,323 (GRCm39) splice site probably null
R4761:Mrps27 UTSW 13 99,548,739 (GRCm39) missense probably benign 0.10
R5114:Mrps27 UTSW 13 99,547,973 (GRCm39) unclassified probably benign
R5294:Mrps27 UTSW 13 99,546,381 (GRCm39) missense probably damaging 1.00
R6387:Mrps27 UTSW 13 99,536,825 (GRCm39) missense possibly damaging 0.80
R6491:Mrps27 UTSW 13 99,499,538 (GRCm39) missense probably damaging 1.00
R6992:Mrps27 UTSW 13 99,541,522 (GRCm39) missense probably benign 0.16
R7165:Mrps27 UTSW 13 99,551,307 (GRCm39) missense possibly damaging 0.89
R7241:Mrps27 UTSW 13 99,547,788 (GRCm39) nonsense probably null
R7709:Mrps27 UTSW 13 99,541,504 (GRCm39) missense probably benign 0.21
R7720:Mrps27 UTSW 13 99,537,838 (GRCm39) missense unknown
R8706:Mrps27 UTSW 13 99,541,508 (GRCm39) missense probably damaging 1.00
Z1177:Mrps27 UTSW 13 99,551,351 (GRCm39) missense possibly damaging 0.68
Predicted Primers
Posted On 2018-04-05