Incidental Mutation 'IGL01336:Mrps14'
ID 74624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps14
Ensembl Gene ENSMUSG00000058267
Gene Name mitochondrial ribosomal protein S14
Synonyms Rpms14, 1810032L21Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # IGL01336
Quality Score
Status
Chromosome 1
Chromosomal Location 160022785-160028756 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 160024565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 32 (W32*)
Ref Sequence ENSEMBL: ENSMUSP00000120075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078878] [ENSMUST00000097193] [ENSMUST00000135680]
AlphaFold Q9CR88
Predicted Effect silent
Transcript: ENSMUST00000078878
Predicted Effect probably null
Transcript: ENSMUST00000097193
AA Change: W26*
SMART Domains Protein: ENSMUSP00000107285
Gene: ENSMUSG00000058267
AA Change: W26*

DomainStartEndE-ValueType
Pfam:Ribosomal_S14 67 121 1.3e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000135680
AA Change: W32*
SMART Domains Protein: ENSMUSP00000120075
Gene: ENSMUSG00000058267
AA Change: W32*

DomainStartEndE-ValueType
Pfam:Ribosomal_S14 74 126 1.6e-24 PFAM
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 28S subunit protein that belongs to the ribosomal protein S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly G T 11: 100,386,736 (GRCm39) L599I probably benign Het
Adcyap1 A G 17: 93,511,392 (GRCm39) D122G probably benign Het
Ahr A G 12: 35,553,839 (GRCm39) V760A probably benign Het
Ankrd7 T C 6: 18,868,277 (GRCm39) V133A probably benign Het
Bsn A G 9: 107,988,984 (GRCm39) V2256A probably damaging Het
Cblb A G 16: 52,006,592 (GRCm39) K765E probably benign Het
Clmp A G 9: 40,693,906 (GRCm39) *374W probably null Het
Ddc A G 11: 11,796,630 (GRCm39) probably null Het
Dnah10 A G 5: 124,852,576 (GRCm39) Y1878C probably damaging Het
Ei24 A G 9: 36,697,777 (GRCm39) probably null Het
Ikbke A G 1: 131,201,493 (GRCm39) M118T probably damaging Het
Il6st T C 13: 112,616,773 (GRCm39) S107P possibly damaging Het
Map2k6 A G 11: 110,387,237 (GRCm39) Y203C probably damaging Het
Mettl27 C T 5: 134,964,734 (GRCm39) probably benign Het
Naaa A C 5: 92,412,992 (GRCm39) M208R probably benign Het
Nat2 A G 8: 67,954,193 (GRCm39) Y101C probably damaging Het
Ncoa3 A G 2: 165,896,443 (GRCm39) S449G probably benign Het
Or4e5 A G 14: 52,728,205 (GRCm39) I72T probably damaging Het
Or6z7 T C 7: 6,483,997 (GRCm39) I53V probably benign Het
Phykpl G A 11: 51,490,283 (GRCm39) probably benign Het
Psma5-ps T C 10: 85,150,028 (GRCm39) noncoding transcript Het
Rasgrf1 A T 9: 89,873,583 (GRCm39) M631L probably benign Het
Rgma G A 7: 73,059,066 (GRCm39) V57M possibly damaging Het
Samd4b G T 7: 28,113,388 (GRCm39) D192E probably benign Het
Sesn2 T C 4: 132,226,678 (GRCm39) T139A probably benign Het
Slc30a6 A G 17: 74,715,834 (GRCm39) probably benign Het
Spata31f1e T A 4: 42,793,784 (GRCm39) Q116L possibly damaging Het
Stra8 T C 6: 34,910,123 (GRCm39) Y182H possibly damaging Het
Trim31 C A 17: 37,220,269 (GRCm39) A395E probably damaging Het
Trp53bp2 G T 1: 182,259,148 (GRCm39) R67L probably damaging Het
Trpa1 A C 1: 14,957,104 (GRCm39) probably benign Het
Wdr91 G A 6: 34,886,478 (GRCm39) probably benign Het
Other mutations in Mrps14
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB001:Mrps14 UTSW 1 160,024,559 (GRCm39) missense probably benign 0.00
BB011:Mrps14 UTSW 1 160,024,559 (GRCm39) missense probably benign 0.00
R1467:Mrps14 UTSW 1 160,024,520 (GRCm39) missense probably benign 0.02
R1467:Mrps14 UTSW 1 160,024,520 (GRCm39) missense probably benign 0.02
R2147:Mrps14 UTSW 1 160,022,862 (GRCm39) missense possibly damaging 0.72
R5560:Mrps14 UTSW 1 160,023,105 (GRCm39) missense probably benign
R7924:Mrps14 UTSW 1 160,024,559 (GRCm39) missense probably benign 0.00
R9596:Mrps14 UTSW 1 160,027,122 (GRCm39) missense possibly damaging 0.79
Z1176:Mrps14 UTSW 1 160,024,597 (GRCm39) missense probably benign
Posted On 2013-10-07