Incidental Mutation 'IGL00834:Mrps17'
ID12092
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps17
Ensembl Gene ENSMUSG00000034211
Gene Namemitochondrial ribosomal protein S17
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00834
Quality Score
Status
Chromosome5
Chromosomal Location129715497-129722556 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 129716765 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 8 (V8I)
Ref Sequence ENSEMBL: ENSMUSP00000115097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042191] [ENSMUST00000118420] [ENSMUST00000119576] [ENSMUST00000119604] [ENSMUST00000119985] [ENSMUST00000121339] [ENSMUST00000121813] [ENSMUST00000136108] [ENSMUST00000138812] [ENSMUST00000154358]
Predicted Effect probably benign
Transcript: ENSMUST00000042191
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000040281
Gene: ENSMUSG00000034211
AA Change: V8I

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
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000112993
Gene: ENSMUSG00000034211
AA Change: V8I

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
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000112779
Gene: ENSMUSG00000034211
AA Change: V8I

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
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000114012
Gene: ENSMUSG00000034211
AA Change: V8I

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
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000112762
Gene: ENSMUSG00000034211
AA Change: V8I

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
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000114125
Gene: ENSMUSG00000034211
AA Change: V8I

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
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000114059
Gene: ENSMUSG00000034211
AA Change: V8I

DomainStartEndE-ValueType
Pfam:Ribosomal_S17 15 84 1.9e-8 PFAM
low complexity region 106 117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136108
AA Change: V8I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000122093
Gene: ENSMUSG00000034211
AA Change: V8I

DomainStartEndE-ValueType
Pfam:Ribosomal_S17 15 84 3.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138812
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000154358
AA Change: V8I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000115189
Gene: ENSMUSG00000034211
AA Change: V8I

DomainStartEndE-ValueType
Pfam:Ribosomal_S17 15 75 5.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199999
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 A G 13: 4,512,665 probably null Het
Alg5 T C 3: 54,744,719 probably benign Het
App A T 16: 84,965,711 F675I probably damaging Het
Atad1 C A 19: 32,698,568 C152F probably benign Het
Atp2a3 A C 11: 72,982,787 I829L probably damaging Het
B3galt1 C T 2: 68,118,706 S255L probably damaging Het
Bptf A G 11: 107,073,928 V1417A possibly damaging Het
Cast T A 13: 74,736,974 T219S probably damaging Het
Cep95 A T 11: 106,818,217 I705F probably damaging Het
Cnot3 C T 7: 3,650,855 A2V probably damaging Het
Col1a1 A G 11: 94,949,378 D1084G unknown Het
Col5a3 G A 9: 20,786,389 Q873* probably null Het
Cubn C T 2: 13,381,927 G1509D probably damaging Het
Defb10 T A 8: 21,861,936 C66S possibly damaging Het
Dennd4b T C 3: 90,279,686 probably null Het
Dido1 G A 2: 180,689,526 T43M possibly damaging Het
Hmcn1 C T 1: 150,630,340 V3812I probably benign Het
Islr2 T C 9: 58,199,786 T64A probably benign Het
Kif2b A T 11: 91,576,380 I359N probably damaging Het
Kit A C 5: 75,645,959 N704T probably damaging Het
Ksr1 A G 11: 79,027,517 F604L probably damaging Het
Lrp5 A T 19: 3,649,404 F294I probably benign Het
Lrrn1 A G 6: 107,568,308 T356A probably benign Het
Nop56 T A 2: 130,275,995 H130Q possibly damaging Het
Plg T A 17: 12,411,493 L639Q probably damaging Het
Ppcdc A G 9: 57,415,140 F159L probably benign Het
Ppp1ca A G 19: 4,194,520 T193A probably benign Het
Prpf39 A G 12: 65,043,263 D117G probably damaging Het
Ranbp2 C A 10: 58,453,323 T51K possibly damaging Het
Sytl2 A G 7: 90,382,636 probably benign Het
Tenm2 T A 11: 36,024,258 I2150F probably damaging Het
Wdr11 T G 7: 129,593,093 probably null Het
Other mutations in Mrps17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01904:Mrps17 APN 5 129716801 missense probably damaging 1.00
IGL02137:Mrps17 APN 5 129716783 missense probably benign 0.16
IGL02139:Mrps17 APN 5 129716796 missense probably damaging 0.97
IGL03266:Mrps17 APN 5 129716742 utr 5 prime probably benign
R0350:Mrps17 UTSW 5 129718145 unclassified probably benign
R2410:Mrps17 UTSW 5 129717983 missense probably damaging 1.00
Posted On2012-12-06