Incidental Mutation 'IGL03266:Mrps17'
ID 415092
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps17
Ensembl Gene ENSMUSG00000034211
Gene Name mitochondrial ribosomal protein S17
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.358) question?
Stock # IGL03266
Quality Score
Status
Chromosome 5
Chromosomal Location 129792514-129795776 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 129793806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042191] [ENSMUST00000118420] [ENSMUST00000119576] [ENSMUST00000119604] [ENSMUST00000119985] [ENSMUST00000121339] [ENSMUST00000121813] [ENSMUST00000136108] [ENSMUST00000138812] [ENSMUST00000154358]
AlphaFold Q9CQE3
Predicted Effect probably benign
Transcript: ENSMUST00000042191
SMART Domains Protein: ENSMUSP00000040281
Gene: ENSMUSG00000034211

DomainStartEndE-ValueType
Pfam:Ribosomal_S17 15 84 1.9e-8 PFAM
low complexity region 106 117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118420
SMART Domains Protein: ENSMUSP00000112993
Gene: ENSMUSG00000034211

DomainStartEndE-ValueType
Pfam:Ribosomal_S17 15 84 1.9e-8 PFAM
low complexity region 106 117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119576
SMART Domains Protein: ENSMUSP00000112779
Gene: ENSMUSG00000034211

DomainStartEndE-ValueType
Pfam:Ribosomal_S17 15 83 1.1e-17 PFAM
low complexity region 106 117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119604
SMART Domains Protein: ENSMUSP00000114012
Gene: ENSMUSG00000034211

DomainStartEndE-ValueType
Pfam:Ribosomal_S17 15 84 1.9e-8 PFAM
low complexity region 106 117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119985
SMART Domains Protein: ENSMUSP00000112762
Gene: ENSMUSG00000034211

DomainStartEndE-ValueType
Pfam:Ribosomal_S17 15 84 1.9e-8 PFAM
low complexity region 106 117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121339
SMART Domains Protein: ENSMUSP00000114125
Gene: ENSMUSG00000034211

DomainStartEndE-ValueType
Pfam:Ribosomal_S17 15 84 1.9e-8 PFAM
low complexity region 106 117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121813
SMART Domains Protein: ENSMUSP00000114059
Gene: ENSMUSG00000034211

DomainStartEndE-ValueType
Pfam:Ribosomal_S17 15 84 1.9e-8 PFAM
low complexity region 106 117 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199999
Predicted Effect probably benign
Transcript: ENSMUST00000136108
SMART Domains Protein: ENSMUSP00000122093
Gene: ENSMUSG00000034211

DomainStartEndE-ValueType
Pfam:Ribosomal_S17 15 84 3.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138812
Predicted Effect probably benign
Transcript: ENSMUST00000154358
SMART Domains Protein: ENSMUSP00000115189
Gene: ENSMUSG00000034211

DomainStartEndE-ValueType
Pfam:Ribosomal_S17 15 75 5.7e-14 PFAM
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 S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A T 6: 88,815,916 (GRCm39) V185E probably damaging Het
Acly T C 11: 100,374,578 (GRCm39) E815G probably damaging Het
Actr10 T G 12: 71,003,440 (GRCm39) S261A probably benign Het
Als2cl T C 9: 110,719,924 (GRCm39) V504A possibly damaging Het
Btla T C 16: 45,059,638 (GRCm39) I114T probably damaging Het
Cacna2d3 T A 14: 29,022,705 (GRCm39) I348L probably benign Het
Chst15 T A 7: 131,871,805 (GRCm39) I159F probably damaging Het
Creld1 T A 6: 113,466,558 (GRCm39) H208Q probably benign Het
Fap C T 2: 62,367,366 (GRCm39) V334I probably benign Het
Fat2 C T 11: 55,174,855 (GRCm39) V1953M possibly damaging Het
Fgfr3 G A 5: 33,891,709 (GRCm39) A595T probably damaging Het
Gm8122 T A 14: 43,090,116 (GRCm39) M125L unknown Het
Itprid2 G A 2: 79,472,534 (GRCm39) probably null Het
Klk1b1 T G 7: 43,619,900 (GRCm39) L153R probably benign Het
Lrig3 T A 10: 125,849,151 (GRCm39) M957K probably benign Het
Mc3r C T 2: 172,091,189 (GRCm39) A137V probably benign Het
Met T A 6: 17,540,537 (GRCm39) L821Q possibly damaging Het
Myh2 A G 11: 67,067,150 (GRCm39) T202A probably benign Het
Nae1 T C 8: 105,239,828 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,402,348 (GRCm39) I2240N probably damaging Het
Stat6 T C 10: 127,493,024 (GRCm39) L552P possibly damaging Het
Trbv3 C A 6: 41,025,658 (GRCm39) Q83K probably benign Het
Uaca A T 9: 60,770,689 (GRCm39) D344V probably damaging Het
Ube2q2l T C 6: 136,377,921 (GRCm39) E303G probably damaging Het
Uggt1 A T 1: 36,189,129 (GRCm39) D1452E probably damaging Het
Vwf T C 6: 125,655,040 (GRCm39) probably benign Het
Other mutations in Mrps17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Mrps17 APN 5 129,793,829 (GRCm39) missense probably benign 0.01
IGL01904:Mrps17 APN 5 129,793,865 (GRCm39) missense probably damaging 1.00
IGL02137:Mrps17 APN 5 129,793,847 (GRCm39) missense probably benign 0.16
IGL02139:Mrps17 APN 5 129,793,860 (GRCm39) missense probably damaging 0.97
R0350:Mrps17 UTSW 5 129,795,209 (GRCm39) unclassified probably benign
R2410:Mrps17 UTSW 5 129,795,047 (GRCm39) missense probably damaging 1.00
R7329:Mrps17 UTSW 5 129,793,705 (GRCm39) intron probably benign
R7337:Mrps17 UTSW 5 129,793,863 (GRCm39) missense probably damaging 1.00
R9017:Mrps17 UTSW 5 129,793,857 (GRCm39) missense probably damaging 0.96
Posted On 2016-08-02