Incidental Mutation 'IGL01934:Mrpl58'
ID180594
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 #IGL01934
Quality Score
Status
Chromosome11
Chromosomal Location115403752-115412674 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) C to A at 115410729 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043931] [ENSMUST00000073791] [ENSMUST00000103036] [ENSMUST00000106537] [ENSMUST00000106539] [ENSMUST00000122946] [ENSMUST00000153983]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000021079
Predicted Effect probably benign
Transcript: ENSMUST00000043931
SMART Domains Protein: ENSMUSP00000046256
Gene: ENSMUSG00000034566

DomainStartEndE-ValueType
Pfam:Mt_ATP-synt_D 2 161 2.7e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073791
SMART Domains Protein: ENSMUSP00000086072
Gene: ENSMUSG00000034566

DomainStartEndE-ValueType
Pfam:Mt_ATP-synt_D 2 161 2.7e-77 PFAM
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: ENSMUST00000106537
SMART Domains Protein: ENSMUSP00000102147
Gene: ENSMUSG00000034566

DomainStartEndE-ValueType
Pfam:Mt_ATP-synt_D 3 160 5.6e-71 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 noncoding transcript
Transcript: ENSMUST00000137563
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: ENSMUST00000141474
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,585,655 K362E probably damaging Het
4932438H23Rik T A 16: 91,055,865 T128S probably damaging Het
Aars T A 8: 111,048,018 I593N probably damaging Het
Abca6 A T 11: 110,188,655 N1224K probably benign Het
Abcc5 A T 16: 20,422,441 probably benign Het
Adam7 A G 14: 68,532,599 L35P probably damaging Het
Ahnak T A 19: 9,002,657 L435Q probably damaging Het
Ankef1 A G 2: 136,552,531 E620G possibly damaging Het
Ap3d1 A T 10: 80,709,258 L1082* probably null Het
Atp6v0a4 T A 6: 38,051,546 I712F possibly damaging Het
Bco1 T A 8: 117,096,045 F5L possibly damaging Het
Cacna2d4 A T 6: 119,308,768 S794C probably damaging Het
Camk2d T C 3: 126,834,655 probably null Het
Capn15 T C 17: 25,963,024 T604A probably damaging Het
Cd180 A T 13: 102,702,858 D83V probably damaging Het
Ces1a C A 8: 93,032,650 R286L probably damaging Het
Col6a6 A G 9: 105,698,659 probably null Het
Crnkl1 A G 2: 145,931,282 V148A probably benign Het
Epas1 A T 17: 86,823,729 K312N probably damaging Het
Fbxw2 T C 2: 34,822,606 S148G probably damaging Het
Fig4 T C 10: 41,228,112 T791A probably benign Het
Galnt9 A T 5: 110,602,636 I340F possibly damaging Het
Gfap G A 11: 102,894,460 A230V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm454 T C 5: 138,207,162 noncoding transcript Het
Il24 A T 1: 130,883,877 L115Q probably damaging Het
Ipp C A 4: 116,510,655 N28K probably damaging Het
Kalrn A T 16: 34,198,512 probably null Het
Klf10 C T 15: 38,297,284 V171M probably benign Het
Man1b1 T C 2: 25,345,511 S350P probably benign Het
Mfsd4a T C 1: 132,046,311 Y343C probably damaging Het
Myo7b A G 18: 32,001,341 probably null Het
Nbas T C 12: 13,289,879 probably benign Het
Nisch A G 14: 31,176,739 probably benign Het
Olfr494 A G 7: 108,368,161 I224V probably damaging Het
Olfr619 T C 7: 103,603,975 F107S probably damaging Het
Olfr97 A T 17: 37,231,548 V274D probably damaging Het
Parva T A 7: 112,588,553 C352* probably null Het
Ptf1a T A 2: 19,446,620 C254S possibly damaging Het
R3hdm1 G T 1: 128,236,535 R1062L probably benign Het
Rnf44 A G 13: 54,681,950 V407A probably damaging Het
Shank3 T C 15: 89,549,846 L1598P probably damaging Het
Slit2 T C 5: 48,238,405 S717P possibly damaging Het
Svs1 A T 6: 48,988,761 I568F probably damaging Het
Tdpoz4 A G 3: 93,797,472 K359E probably damaging Het
Tmtc4 A T 14: 122,927,635 L604* probably null Het
Tnfrsf21 A T 17: 43,065,187 N488I probably benign Het
Tnfsf8 A G 4: 63,834,510 probably benign Het
Tnpo3 A T 6: 29,575,020 L382M probably benign Het
Tut1 T C 19: 8,953,991 C18R probably damaging Het
Ugt8a A G 3: 125,914,775 S229P probably benign Het
Usp22 T C 11: 61,155,288 E476G probably damaging Het
Vill G T 9: 119,066,809 A146S probably damaging Het
Vmn1r178 T C 7: 23,893,937 Y137H probably damaging Het
Wdfy1 A T 1: 79,740,116 W51R probably damaging Het
Zc3hav1 A T 6: 38,319,833 probably null Het
Zfp236 A T 18: 82,633,120 V889E probably damaging Het
Zscan20 T C 4: 128,592,484 D141G possibly damaging Het
Other mutations in Mrpl58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Mrpl58 APN 11 115406578 missense probably damaging 0.99
IGL02633:Mrpl58 APN 11 115410631 splice site 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 On2014-05-07