Incidental Mutation 'IGL01403:Mrpl58'
ID 79719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl58
Ensembl Gene ENSMUSG00000018858
Gene Name mitochondrial ribosomal protein L58
Synonyms 1110001A02Rik, 1110002E03Rik, Ict1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01403
Quality Score
Status
Chromosome 11
Chromosomal Location 115294578-115303500 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115297404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 72 (I72F)
Ref Sequence ENSEMBL: ENSMUSP00000116746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103036] [ENSMUST00000106539] [ENSMUST00000122946] [ENSMUST00000153983]
AlphaFold Q8R035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000021079
Predicted Effect probably damaging
Transcript: ENSMUST00000103036
AA Change: I43F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099325
Gene: ENSMUSG00000018858
AA Change: I43F

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
Pfam:RF-1 34 173 6.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106539
AA Change: I72F

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102149
Gene: ENSMUSG00000018858
AA Change: I72F

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
PDB:1J26|A 63 142 8e-49 PDB
SCOP:d1gqea_ 98 174 2e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122946
SMART Domains Protein: ENSMUSP00000116245
Gene: ENSMUSG00000018858

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133192
Predicted Effect probably damaging
Transcript: ENSMUST00000153983
AA Change: I72F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116746
Gene: ENSMUSG00000018858
AA Change: I72F

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
Pfam:RF-1 66 204 1.9e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155134
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peptidyl-tRNA hydrolase and a vital component of the large mitochondrial ribosome. The encoded protein serves as a ribosome release factor for this ribosome, which translates mitochondrial genes. This protein may be responsible for degrading prematurely-terminated polypeptides and for reusing stalled ribosomes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,836,602 (GRCm39) L1103Q probably damaging Het
Adam12 T A 7: 133,521,339 (GRCm39) Q605L probably benign Het
Adk A G 14: 21,284,983 (GRCm39) K102R probably damaging Het
Afdn C T 17: 14,124,132 (GRCm39) P1761S probably damaging Het
Ascc1 A G 10: 59,848,280 (GRCm39) probably benign Het
Aspdh A G 7: 44,115,983 (GRCm39) probably null Het
Bbx T C 16: 50,022,876 (GRCm39) I753V probably benign Het
Ccdc33 T C 9: 58,024,668 (GRCm39) Y186C probably damaging Het
Ccdc78 T A 17: 26,007,218 (GRCm39) probably null Het
Ckmt1 T C 2: 121,193,447 (GRCm39) probably benign Het
Csf1r A G 18: 61,247,897 (GRCm39) T322A probably benign Het
Dnah7b T C 1: 46,155,460 (GRCm39) probably benign Het
Dr1 A G 5: 108,417,576 (GRCm39) N41D possibly damaging Het
Ehmt1 G A 2: 24,729,638 (GRCm39) T633I possibly damaging Het
Fgf7 T A 2: 125,877,860 (GRCm39) Y76N probably damaging Het
Hmcn1 A T 1: 150,468,848 (GRCm39) W5038R probably damaging Het
Ighv14-1 A G 12: 113,895,862 (GRCm39) V21A probably damaging Het
Igkv5-37 T A 6: 69,940,420 (GRCm39) I75F probably damaging Het
Inhbc T A 10: 127,205,968 (GRCm39) I100F probably damaging Het
Irs3 A G 5: 137,643,581 (GRCm39) F68L probably damaging Het
Itpr3 T A 17: 27,337,569 (GRCm39) C2460S probably damaging Het
Krt34 A G 11: 99,929,116 (GRCm39) C365R possibly damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Ly6g A G 15: 75,030,497 (GRCm39) N82S probably damaging Het
Myo9a G A 9: 59,778,846 (GRCm39) R1534H probably damaging Het
Npat T A 9: 53,466,429 (GRCm39) F239L probably benign Het
Nsd2 A G 5: 34,042,722 (GRCm39) probably benign Het
Nuggc T C 14: 65,860,635 (GRCm39) V427A probably benign Het
Or52b1 G A 7: 104,978,605 (GRCm39) R265C probably benign Het
Or5p55 A G 7: 107,566,828 (GRCm39) T75A possibly damaging Het
Pde4a A T 9: 21,116,412 (GRCm39) I467F probably damaging Het
Pkhd1l1 T A 15: 44,347,229 (GRCm39) C198* probably null Het
Pla2r1 A G 2: 60,254,632 (GRCm39) V1312A probably damaging Het
Pola2 T C 19: 6,009,121 (GRCm39) H79R probably benign Het
Potefam1 T C 2: 111,059,515 (GRCm39) probably benign Het
Pramel15 A T 4: 144,103,703 (GRCm39) M141K probably benign Het
Psen2 A T 1: 180,062,548 (GRCm39) probably benign Het
Rnf213 A G 11: 119,334,126 (GRCm39) K3112E probably damaging Het
Slc6a4 G T 11: 76,922,498 (GRCm39) V630L probably benign Het
Smg1 A T 7: 117,757,355 (GRCm39) probably benign Het
Tmc8 A G 11: 117,681,900 (GRCm39) T510A possibly damaging Het
Usp18 T A 6: 121,245,627 (GRCm39) H334Q possibly damaging Het
Vmn2r103 T C 17: 20,013,229 (GRCm39) Y117H probably benign Het
Vps13b T A 15: 35,709,625 (GRCm39) D1857E probably benign Het
Other mutations in Mrpl58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01934:Mrpl58 APN 11 115,301,555 (GRCm39) utr 3 prime probably benign
IGL02633:Mrpl58 APN 11 115,301,457 (GRCm39) splice site probably benign
IGL02935:Mrpl58 APN 11 115,301,054 (GRCm39) splice site probably benign
R6322:Mrpl58 UTSW 11 115,301,492 (GRCm39) nonsense probably null
R6419:Mrpl58 UTSW 11 115,301,073 (GRCm39) missense probably damaging 1.00
R7491:Mrpl58 UTSW 11 115,301,092 (GRCm39) missense possibly damaging 0.48
Posted On 2013-11-05