Incidental Mutation 'IGL00590:Mrps6'
ID 332728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps6
Ensembl Gene ENSMUSG00000039680
Gene Name mitochondrial ribosomal protein S6
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00590
Quality Score
Status
Chromosome 16
Chromosomal Location 91855224-91909115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91896548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 38 (N38D)
Ref Sequence ENSEMBL: ENSMUSP00000156255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047429] [ENSMUST00000232677]
AlphaFold P58064
Predicted Effect probably benign
Transcript: ENSMUST00000047429
AA Change: N38D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037631
Gene: ENSMUSG00000039680
AA Change: N38D

DomainStartEndE-ValueType
Pfam:Ribosomal_S6 3 95 7.2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232222
Predicted Effect probably benign
Transcript: ENSMUST00000232677
AA Change: N38D

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
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 S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T G 7: 120,023,038 (GRCm39) F58C probably damaging Het
Adgrf5 G T 17: 43,764,038 (GRCm39) G1320V probably damaging Het
Akap13 A G 7: 75,260,417 (GRCm39) K211E probably benign Het
Akap8l T C 17: 32,552,071 (GRCm39) D402G possibly damaging Het
Akna T C 4: 63,290,115 (GRCm39) I1198V probably benign Het
Apaf1 T A 10: 90,859,650 (GRCm39) I832F probably damaging Het
Cbl A C 9: 44,112,495 (GRCm39) L67V probably damaging Het
Chl1 T C 6: 103,670,022 (GRCm39) Y471H probably benign Het
Cystm1 T A 18: 36,499,728 (GRCm39) Y48N unknown Het
Dennd5b T C 6: 148,969,806 (GRCm39) T216A probably benign Het
Dpep2 A T 8: 106,715,453 (GRCm39) M356K probably damaging Het
Dtymk A G 1: 93,722,446 (GRCm39) probably null Het
Fam91a1 A G 15: 58,287,565 (GRCm39) D4G possibly damaging Het
Fbxl20 A G 11: 97,983,955 (GRCm39) L306P probably damaging Het
Fchsd1 C T 18: 38,098,946 (GRCm39) probably benign Het
Fndc1 G A 17: 7,983,933 (GRCm39) T1331I unknown Het
Gpatch8 T C 11: 102,371,375 (GRCm39) D721G unknown Het
Gsg1 A T 6: 135,221,348 (GRCm39) I17N possibly damaging Het
Heyl A G 4: 123,140,423 (GRCm39) *327W probably null Het
Kif13b G T 14: 65,016,911 (GRCm39) R1359L probably damaging Het
Map3k14 C T 11: 103,128,380 (GRCm39) G414S probably damaging Het
Meis2 C T 2: 115,699,274 (GRCm39) A330T probably damaging Het
Mrpl9 T C 3: 94,351,003 (GRCm39) L61P probably damaging Het
Muc4 C T 16: 32,575,465 (GRCm39) T1407I probably benign Het
Nup107 A G 10: 117,599,708 (GRCm39) Y604H probably damaging Het
Pgm2l1 T C 7: 99,904,826 (GRCm39) probably null Het
Pisd T C 5: 32,895,756 (GRCm39) I441V probably benign Het
Rb1cc1 T C 1: 6,308,520 (GRCm39) F52S probably damaging Het
Rnft1 T A 11: 86,386,740 (GRCm39) W383R probably damaging Het
Tas2r104 A T 6: 131,662,530 (GRCm39) W60R probably damaging Het
Tlr11 A G 14: 50,598,373 (GRCm39) T120A probably benign Het
Tmem150b T G 7: 4,726,896 (GRCm39) I71L probably benign Het
Zfp296 A G 7: 19,311,760 (GRCm39) D89G possibly damaging Het
Other mutations in Mrps6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0569:Mrps6 UTSW 16 91,908,808 (GRCm39) missense possibly damaging 0.91
R1017:Mrps6 UTSW 16 91,855,346 (GRCm39) nonsense probably null
R5258:Mrps6 UTSW 16 91,896,543 (GRCm39) missense probably damaging 1.00
R7322:Mrps6 UTSW 16 91,855,335 (GRCm39) nonsense probably null
Posted On 2015-08-05