Incidental Mutation 'IGL01685:Mrps27'
ID103932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps27
Ensembl Gene ENSMUSG00000041632
Gene Namemitochondrial ribosomal protein S27
Synonyms2610028H14Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.930) question?
Stock #IGL01685
Quality Score
Status
Chromosome13
Chromosomal Location99344786-99415562 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 99414920 bp
ZygosityHeterozygous
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

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
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