Incidental Mutation 'IGL03348:Mrps5'
ID 419556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps5
Ensembl Gene ENSMUSG00000027374
Gene Name mitochondrial ribosomal protein S5
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL03348
Quality Score
Status
Chromosome 2
Chromosomal Location 127587222-127606829 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 127601385 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 294 (H294Q)
Ref Sequence ENSEMBL: ENSMUSP00000028852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028852]
AlphaFold Q99N87
Predicted Effect probably damaging
Transcript: ENSMUST00000028852
AA Change: H294Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028852
Gene: ENSMUSG00000027374
AA Change: H294Q

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 noncoding transcript
Transcript: ENSMUST00000126491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145271
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik A C 8: 99,421,692 noncoding transcript Het
Adgrv1 T C 13: 81,499,058 N3121S possibly damaging Het
Aldh16a1 C T 7: 45,141,975 R102Q possibly damaging Het
Atp9b A T 18: 80,836,422 I346K possibly damaging Het
Baiap2l1 T C 5: 144,278,531 K388R probably benign Het
BC024978 T G 7: 27,197,120 probably null Het
Cfap65 A C 1: 74,927,619 I303S probably damaging Het
Chd5 C T 4: 152,376,685 P1244L probably damaging Het
Col12a1 A G 9: 79,693,430 S791P possibly damaging Het
Ctsz T A 2: 174,428,697 I231F probably damaging Het
Dnah8 A G 17: 30,746,986 T2431A probably damaging Het
Eif4b T C 15: 102,093,031 probably benign Het
Epha4 T C 1: 77,507,172 I67V possibly damaging Het
Exoc1 T A 5: 76,535,593 V55D probably damaging Het
Exosc8 A T 3: 54,732,722 D72E possibly damaging Het
F5 C T 1: 164,194,152 P1399S possibly damaging Het
Fmo1 T A 1: 162,850,151 N132I possibly damaging Het
Fndc1 T A 17: 7,772,647 H739L unknown Het
Glb1l2 T C 9: 26,765,680 D415G probably benign Het
Gphn T A 12: 78,627,119 H498Q probably damaging Het
Lrrc56 A G 7: 141,207,240 N342S probably benign Het
Mbnl3 G A X: 51,164,548 T16I probably damaging Het
Neu4 A G 1: 94,024,974 Y355C possibly damaging Het
Obscn A T 11: 59,050,362 D5105E probably damaging Het
Olfr1187-ps1 T C 2: 88,540,141 noncoding transcript Het
Olfr1305 C A 2: 111,873,148 A236S probably damaging Het
Olfr498 A G 7: 108,465,408 D28G probably benign Het
Olfr725 A G 14: 50,034,755 I216T probably benign Het
Parp1 T A 1: 180,577,707 probably benign Het
Plac1 A T X: 53,070,640 N64K probably damaging Het
Plcd1 C A 9: 119,072,490 K655N possibly damaging Het
Psme4 T C 11: 30,876,796 S1772P probably damaging Het
Shcbp1 C T 8: 4,765,089 V130I probably benign Het
Slc25a11 T C 11: 70,645,344 probably benign Het
Svep1 C T 4: 58,113,635 G1004E probably damaging Het
Tars2 T C 3: 95,740,268 probably null Het
Tbc1d12 C T 19: 38,916,620 T593I probably damaging Het
Tcerg1l T A 7: 138,213,371 E526D probably damaging Het
Tmcc3 G A 10: 94,579,080 V215M possibly damaging Het
Trappc8 T C 18: 20,852,781 D601G probably damaging Het
Trp53bp2 T A 1: 182,453,748 N971K probably damaging Het
Ube2g2 A T 10: 77,630,877 E36D probably benign Het
Uggt2 T A 14: 119,070,888 R360S probably benign Het
Utp20 A G 10: 88,758,317 V2182A probably benign Het
Other mutations in Mrps5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01968:Mrps5 APN 2 127591907 missense probably null 0.01
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
R9358:Mrps5 UTSW 2 127595814 missense probably benign 0.23
Posted On 2016-08-02