Incidental Mutation 'IGL02633:Mrpl58'
ID301411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl58
Ensembl Gene ENSMUSG00000018858
Gene Namemitochondrial ribosomal protein L58
SynonymsIct1, 1110001A02Rik, 1110002E03Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02633
Quality Score
Status
Chromosome11
Chromosomal Location115403752-115412674 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 115410631 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103036] [ENSMUST00000106539] [ENSMUST00000122946] [ENSMUST00000153983]
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 noncoding transcript
Transcript: ENSMUST00000135619
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
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
Aff4 T C 11: 53,409,371 probably benign Het
Ap1g2 T C 14: 55,100,647 probably null Het
Aspn A T 13: 49,551,887 Y75F possibly damaging Het
Atm G A 9: 53,448,153 T2783I probably damaging Het
Cacnb1 A T 11: 98,022,373 I18N probably damaging Het
Casr T C 16: 36,515,655 I97M probably damaging Het
Cnga2 T A X: 72,005,049 probably benign Het
Coasy T A 11: 101,085,321 L425Q probably damaging Het
Cps1 A G 1: 67,123,237 T25A probably benign Het
Dnah1 T C 14: 31,284,815 Y2181C probably benign Het
Efna3 A C 3: 89,315,442 S230A probably damaging Het
Eng A G 2: 32,673,274 I281V probably damaging Het
Erlec1 T A 11: 30,948,430 R14* probably null Het
Fam206a T C 4: 56,806,131 V181A possibly damaging Het
Gbp9 C T 5: 105,083,565 probably benign Het
Gzmg T C 14: 56,156,703 M245V probably damaging Het
Kdm5a A G 6: 120,364,719 I36V probably damaging Het
Krt83 A G 15: 101,491,214 V79A probably damaging Het
Limd1 A T 9: 123,479,922 probably benign Het
Lmo4 T C 3: 144,193,922 S155G probably benign Het
Mrpl44 G A 1: 79,776,145 V5I probably benign Het
Mrpl49 T C 19: 6,054,901 T146A possibly damaging Het
Nab1 C T 1: 52,490,133 V202M probably damaging Het
Nav3 T A 10: 109,692,136 M2229L probably benign Het
Notch2 C T 3: 98,116,697 probably benign Het
Nub1 A G 5: 24,692,933 I106V probably benign Het
Prom1 A T 5: 44,014,775 S595T probably benign Het
Rbfox1 T A 16: 7,292,214 S165R probably damaging Het
Sipa1l2 G A 8: 125,447,768 T1257I probably damaging Het
Smarcc2 T C 10: 128,469,687 S327P probably damaging Het
Tdpoz1 T C 3: 93,670,749 M243V probably benign Het
Ttn G T 2: 76,718,945 T23469K probably damaging Het
Ube2u T C 4: 100,482,774 probably benign Het
Umodl1 T C 17: 30,989,488 Y836H probably damaging Het
Vmn2r45 A G 7: 8,485,729 Y101H probably benign Het
Vps13a T A 19: 16,720,408 Q781L possibly damaging Het
Vwce G A 19: 10,648,494 V457M probably damaging Het
Other mutations in Mrpl58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Mrpl58 APN 11 115406578 missense probably damaging 0.99
IGL01934:Mrpl58 APN 11 115410729 utr 3 prime probably benign
IGL02935:Mrpl58 APN 11 115410228 splice site probably benign
R6322:Mrpl58 UTSW 11 115410666 nonsense probably null
R6419:Mrpl58 UTSW 11 115410247 missense probably damaging 1.00
R7491:Mrpl58 UTSW 11 115410266 missense possibly damaging 0.48
Posted On2015-04-16