Incidental Mutation 'IGL01685:Mrps27'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps27
Ensembl Gene ENSMUSG00000041632
Gene Namemitochondrial ribosomal protein S27
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.930) question?
Stock #IGL01685
Quality Score
Chromosomal Location99344786-99415562 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 99414920 bp
Amino Acid Change Glutamine to Leucine at position 397 (Q397L)
Ref Sequence ENSEMBL: ENSMUSP00000062326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052249] [ENSMUST00000224660]
Predicted Effect possibly damaging
Transcript: ENSMUST00000052249
AA Change: Q397L

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062326
Gene: ENSMUSG00000041632
AA Change: Q397L

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
Coding Region Coverage
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 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,403,446 R66S possibly damaging Het
Adamtsl4 A G 3: 95,684,595 V61A possibly damaging Het
Arnt A G 3: 95,474,681 Y195C probably damaging Het
Brd3 A G 2: 27,459,488 I351T probably damaging Het
Cd28 T A 1: 60,763,148 Y75* probably null Het
Cyfip2 A G 11: 46,207,488 probably benign Het
Dip2a T G 10: 76,327,749 E39A probably damaging Het
Dst T C 1: 34,170,452 V1200A probably damaging Het
Dync2h1 A G 9: 7,142,297 L1216P probably damaging Het
Ecm2 A T 13: 49,528,898 I468F probably damaging Het
Gucy1b1 C A 3: 82,035,285 V517F probably benign Het
H2afy2 C T 10: 61,757,771 S42N probably damaging Het
H2-T23 T C 17: 36,032,644 Q9R probably benign Het
Huwe1 T C X: 151,898,670 probably benign Het
Hydin A T 8: 110,355,033 K354* probably null Het
Ighv14-2 A T 12: 113,994,501 S107T probably damaging Het
Klk1b8 A C 7: 43,954,870 K254T possibly damaging Het
Lama3 T A 18: 12,453,880 probably benign Het
Mbd6 G T 10: 127,284,732 probably benign Het
Mob1a A T 6: 83,332,503 E32D probably benign Het
Olfr147 T C 9: 38,403,021 I46T possibly damaging Het
Pcdhb18 A C 18: 37,491,931 K771N probably benign Het
Pcdhgc5 T G 18: 37,821,755 L694R probably damaging Het
Pi4ka A T 16: 17,325,202 D815E probably benign Het
Plin4 T C 17: 56,107,362 K88E probably damaging Het
Rint1 A T 5: 23,787,834 probably benign Het
Ssbp1 A G 6: 40,476,765 T82A probably damaging Het
Trpm5 A T 7: 143,082,354 S558T probably benign Het
Tti1 A G 2: 158,000,785 S775P probably benign Het
Zic3 T C X: 58,031,728 V183A probably benign Het
Other mutations in Mrps27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01666:Mrps27 APN 13 99409816 missense probably damaging 1.00
P0043:Mrps27 UTSW 13 99412246 missense probably benign
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 On2014-01-21