Incidental Mutation 'IGL01968:Mrps5'
ID181597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps5
Ensembl Gene ENSMUSG00000027374
Gene Namemitochondrial ribosomal protein S5
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01968
Quality Score
Status
Chromosome2
Chromosomal Location127587222-127606829 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127591907 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 72 (N72S)
Ref Sequence ENSEMBL: ENSMUSP00000119674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028852] [ENSMUST00000110366] [ENSMUST00000146131]
Predicted Effect probably null
Transcript: ENSMUST00000028852
AA Change: N80S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000028852
Gene: ENSMUSG00000027374
AA Change: N80S

DomainStartEndE-ValueType
low complexity region 108 126 N/A INTRINSIC
Pfam:Ribosomal_S5 220 285 3.5e-20 PFAM
Pfam:Ribosomal_S5_C 297 368 4.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110366
SMART Domains Protein: ENSMUSP00000105995
Gene: ENSMUSG00000034800

DomainStartEndE-ValueType
KRAB 14 74 1.33e-28 SMART
ZnF_C2H2 169 191 1.12e-3 SMART
ZnF_C2H2 197 219 6.42e-4 SMART
ZnF_C2H2 225 247 7.37e-4 SMART
ZnF_C2H2 253 275 9.22e-5 SMART
ZnF_C2H2 281 303 9.73e-4 SMART
ZnF_C2H2 309 331 1.04e-3 SMART
ZnF_C2H2 337 359 5.67e-5 SMART
ZnF_C2H2 365 387 5.99e-4 SMART
ZnF_C2H2 393 413 4.94e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134101
Predicted Effect probably null
Transcript: ENSMUST00000146131
AA Change: N72S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000119674
Gene: ENSMUSG00000027374
AA Change: N72S

DomainStartEndE-ValueType
low complexity region 100 118 N/A INTRINSIC
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 belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001L19Rik T G 13: 68,611,244 H112Q probably damaging Het
4933425L06Rik T A 13: 105,119,830 M469K probably damaging Het
Abcb4 A G 5: 8,927,913 D497G probably benign Het
Adgra2 A T 8: 27,121,235 R856* probably null Het
Chodl T A 16: 78,941,669 S138T probably damaging Het
Dnah8 C T 17: 30,656,598 R465* probably null Het
Fgfr2 A G 7: 130,185,248 W358R probably damaging Het
Iqgap2 G T 13: 95,635,582 A1363E possibly damaging Het
Malt1 T A 18: 65,449,016 I317K probably benign Het
Mst1r T A 9: 107,916,806 probably null Het
Nars A T 18: 64,507,858 C176S probably damaging Het
Olfr723 A T 14: 49,929,098 W149R probably damaging Het
Plxna4 T G 6: 32,215,204 D817A possibly damaging Het
Plxnb1 C T 9: 109,100,984 P303S probably benign Het
Prkd2 G T 7: 16,869,576 probably null Het
Sulf1 A T 1: 12,818,451 H320L probably damaging Het
Use1 G A 8: 71,367,067 probably benign Het
Vmn2r6 T C 3: 64,556,345 D356G possibly damaging Het
Other mutations in Mrps5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03348:Mrps5 APN 2 127601385 missense probably damaging 0.98
R0369:Mrps5 UTSW 2 127591829 missense probably benign 0.09
R0485:Mrps5 UTSW 2 127591825 missense possibly damaging 0.56
R0622:Mrps5 UTSW 2 127594531 missense probably benign 0.00
R1954:Mrps5 UTSW 2 127596897 splice site probably null
R2182:Mrps5 UTSW 2 127602487 missense probably damaging 1.00
R3414:Mrps5 UTSW 2 127596912 missense probably benign 0.38
R4007:Mrps5 UTSW 2 127591835 missense possibly damaging 0.81
R4687:Mrps5 UTSW 2 127590770 missense probably benign 0.44
R4780:Mrps5 UTSW 2 127598241 missense probably benign 0.00
R4835:Mrps5 UTSW 2 127603707 missense possibly damaging 0.84
R4851:Mrps5 UTSW 2 127590745 missense probably benign 0.00
R5076:Mrps5 UTSW 2 127600852 nonsense probably null
R5558:Mrps5 UTSW 2 127602435 missense probably damaging 1.00
R6192:Mrps5 UTSW 2 127601385 missense probably damaging 0.98
R7038:Mrps5 UTSW 2 127600866 missense probably damaging 1.00
R7071:Mrps5 UTSW 2 127600852 nonsense probably null
R7103:Mrps5 UTSW 2 127601410 missense probably damaging 0.99
R7177:Mrps5 UTSW 2 127595697 missense probably benign
R7319:Mrps5 UTSW 2 127595842 missense possibly damaging 0.94
R7387:Mrps5 UTSW 2 127600884 missense probably damaging 1.00
R7460:Mrps5 UTSW 2 127591891 missense not run
R8211:Mrps5 UTSW 2 127603724 missense probably benign
Posted On2014-05-07