Incidental Mutation 'IGL00805:Mrpl3'
ID12084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl3
Ensembl Gene ENSMUSG00000032563
Gene Namemitochondrial ribosomal protein L3
Synonyms2010320L16Rik, 5930422H18Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.883) question?
Stock #IGL00805
Quality Score
Status
Chromosome9
Chromosomal Location105053239-105079888 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 105064106 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 204 (V204E)
Ref Sequence ENSEMBL: ENSMUSP00000117547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035177] [ENSMUST00000131655] [ENSMUST00000142424] [ENSMUST00000149243]
Predicted Effect probably damaging
Transcript: ENSMUST00000035177
AA Change: V204E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035177
Gene: ENSMUSG00000032563
AA Change: V204E

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 1 119 1.1e-13 PFAM
Pfam:Ribosomal_L3 112 340 2e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131655
SMART Domains Protein: ENSMUSP00000120313
Gene: ENSMUSG00000032563

DomainStartEndE-ValueType
PDB:4CE4|E 1 148 1e-82 PDB
SCOP:d1jj2b_ 90 148 5e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142424
Predicted Effect probably damaging
Transcript: ENSMUST00000149243
AA Change: V204E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117547
Gene: ENSMUSG00000032563
AA Change: V204E

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 103 300 1.4e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214459
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215577
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 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,380,410 V93E probably damaging Het
Ampd3 A G 7: 110,809,865 I704V possibly damaging Het
Apcdd1 T A 18: 62,933,865 probably benign Het
Dnah9 T C 11: 65,881,695 Y3737C probably benign Het
Ercc4 G T 16: 13,122,004 V43L possibly damaging Het
Jam2 T C 16: 84,815,166 probably benign Het
Ptpn13 T A 5: 103,554,729 M1187K probably benign Het
Sis C A 3: 72,934,199 R761I probably benign Het
Sos1 A G 17: 80,398,524 V1206A possibly damaging Het
Stxbp3 A T 3: 108,816,351 D189E probably benign Het
T T A 17: 8,437,165 D86E probably benign Het
Tek A T 4: 94,798,719 N158I probably damaging Het
Other mutations in Mrpl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Mrpl3 APN 9 105057041 missense probably damaging 1.00
IGL01989:Mrpl3 APN 9 105071479 missense probably benign 0.39
IGL02727:Mrpl3 APN 9 105054527 missense probably damaging 0.99
IGL03188:Mrpl3 APN 9 105057065 missense probably benign 0.00
R0049:Mrpl3 UTSW 9 105055673 missense probably benign 0.06
R0049:Mrpl3 UTSW 9 105055673 missense probably benign 0.06
R0398:Mrpl3 UTSW 9 105064103 missense probably damaging 1.00
R1469:Mrpl3 UTSW 9 105077002 missense probably damaging 0.99
R1469:Mrpl3 UTSW 9 105077002 missense probably damaging 0.99
R1784:Mrpl3 UTSW 9 105057067 missense probably benign 0.00
R4026:Mrpl3 UTSW 9 105071486 critical splice donor site probably null
R4812:Mrpl3 UTSW 9 105073824 missense probably damaging 1.00
R4838:Mrpl3 UTSW 9 105057032 missense probably damaging 1.00
R5407:Mrpl3 UTSW 9 105077095 missense probably benign 0.03
Posted On2012-12-06