Incidental Mutation 'IGL02633:Mrpl58'
ID 301411
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 # IGL02633
Quality Score
Status
Chromosome 11
Chromosomal Location 115294578-115303500 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 115301457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000103036
SMART Domains Protein: ENSMUSP00000099325
Gene: ENSMUSG00000018858

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
SMART Domains Protein: ENSMUSP00000102149
Gene: ENSMUSG00000018858

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 noncoding transcript
Transcript: ENSMUST00000134386
Predicted Effect probably benign
Transcript: ENSMUST00000153983
SMART Domains Protein: ENSMUSP00000116746
Gene: ENSMUSG00000018858

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
Pfam:RF-1 66 204 1.9e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135619
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abitram T C 4: 56,806,131 (GRCm39) V181A possibly damaging Het
Aff4 T C 11: 53,300,198 (GRCm39) probably benign Het
Ap1g2 T C 14: 55,338,104 (GRCm39) probably null Het
Aspn A T 13: 49,705,363 (GRCm39) Y75F possibly damaging Het
Atm G A 9: 53,359,453 (GRCm39) T2783I probably damaging Het
Cacnb1 A T 11: 97,913,199 (GRCm39) I18N probably damaging Het
Casr T C 16: 36,336,017 (GRCm39) I97M probably damaging Het
Cnga2 T A X: 71,048,655 (GRCm39) probably benign Het
Coasy T A 11: 100,976,147 (GRCm39) L425Q probably damaging Het
Cps1 A G 1: 67,162,396 (GRCm39) T25A probably benign Het
Dnah1 T C 14: 31,006,772 (GRCm39) Y2181C probably benign Het
Efna3 A C 3: 89,222,749 (GRCm39) S230A probably damaging Het
Eng A G 2: 32,563,286 (GRCm39) I281V probably damaging Het
Erlec1 T A 11: 30,898,430 (GRCm39) R14* probably null Het
Gbp9 C T 5: 105,231,431 (GRCm39) probably benign Het
Gzmg T C 14: 56,394,160 (GRCm39) M245V probably damaging Het
Kdm5a A G 6: 120,341,680 (GRCm39) I36V probably damaging Het
Krt87 A G 15: 101,389,095 (GRCm39) V79A probably damaging Het
Limd1 A T 9: 123,308,987 (GRCm39) probably benign Het
Lmo4 T C 3: 143,899,683 (GRCm39) S155G probably benign Het
Mrpl44 G A 1: 79,753,862 (GRCm39) V5I probably benign Het
Mrpl49 T C 19: 6,104,931 (GRCm39) T146A possibly damaging Het
Nab1 C T 1: 52,529,292 (GRCm39) V202M probably damaging Het
Nav3 T A 10: 109,527,997 (GRCm39) M2229L probably benign Het
Notch2 C T 3: 98,024,013 (GRCm39) probably benign Het
Nub1 A G 5: 24,897,931 (GRCm39) I106V probably benign Het
Prom1 A T 5: 44,172,117 (GRCm39) S595T probably benign Het
Rbfox1 T A 16: 7,110,078 (GRCm39) S165R probably damaging Het
Sipa1l2 G A 8: 126,174,507 (GRCm39) T1257I probably damaging Het
Smarcc2 T C 10: 128,305,556 (GRCm39) S327P probably damaging Het
Tdpoz1 T C 3: 93,578,056 (GRCm39) M243V probably benign Het
Ttn G T 2: 76,549,289 (GRCm39) T23469K probably damaging Het
Ube2u T C 4: 100,339,971 (GRCm39) probably benign Het
Umodl1 T C 17: 31,208,462 (GRCm39) Y836H probably damaging Het
Vmn2r45 A G 7: 8,488,728 (GRCm39) Y101H probably benign Het
Vps13a T A 19: 16,697,772 (GRCm39) Q781L possibly damaging Het
Vwce G A 19: 10,625,858 (GRCm39) V457M probably damaging Het
Other mutations in Mrpl58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Mrpl58 APN 11 115,297,404 (GRCm39) missense probably damaging 0.99
IGL01934:Mrpl58 APN 11 115,301,555 (GRCm39) utr 3 prime 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 2015-04-16