Incidental Mutation 'IGL00590:Mrps6'
ID332728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps6
Ensembl Gene ENSMUSG00000039680
Gene Namemitochondrial ribosomal protein S6
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00590
Quality Score
Status
Chromosome16
Chromosomal Location92058270-92112227 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92099660 bp
ZygosityHeterozygous
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]
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: 120,423,815 F58C probably damaging Het
Adgrf5 G T 17: 43,453,147 G1320V probably damaging Het
Akap13 A G 7: 75,610,669 K211E probably benign Het
Akap8l T C 17: 32,333,097 D402G possibly damaging Het
Akna T C 4: 63,371,878 I1198V probably benign Het
Apaf1 T A 10: 91,023,788 I832F probably damaging Het
Cbl A C 9: 44,201,198 L67V probably damaging Het
Chl1 T C 6: 103,693,061 Y471H probably benign Het
Cystm1 T A 18: 36,366,675 Y48N unknown Het
Dennd5b T C 6: 149,068,308 T216A probably benign Het
Dpep2 A T 8: 105,988,821 M356K probably damaging Het
Dtymk A G 1: 93,794,724 probably null Het
Fam91a1 A G 15: 58,415,716 D4G possibly damaging Het
Fbxl20 A G 11: 98,093,129 L306P probably damaging Het
Fchsd1 C T 18: 37,965,893 probably benign Het
Fndc1 G A 17: 7,765,101 T1331I unknown Het
Gpatch8 T C 11: 102,480,549 D721G unknown Het
Gsg1 A T 6: 135,244,350 I17N possibly damaging Het
Heyl A G 4: 123,246,630 *327W probably null Het
Kif13b G T 14: 64,779,462 R1359L probably damaging Het
Map3k14 C T 11: 103,237,554 G414S probably damaging Het
Meis2 C T 2: 115,868,793 A330T probably damaging Het
Mrpl9 T C 3: 94,443,696 L61P probably damaging Het
Muc4 C T 16: 32,754,347 T1407I probably benign Het
Nup107 A G 10: 117,763,803 Y604H probably damaging Het
Pgm2l1 T C 7: 100,255,619 probably null Het
Pisd T C 5: 32,738,412 I441V probably benign Het
Rb1cc1 T C 1: 6,238,296 F52S probably damaging Het
Rnft1 T A 11: 86,495,914 W383R probably damaging Het
Tas2r104 A T 6: 131,685,567 W60R probably damaging Het
Tlr11 A G 14: 50,360,916 T120A probably benign Het
Tmem150b T G 7: 4,723,897 I71L probably benign Het
Zfp296 A G 7: 19,577,835 D89G possibly damaging Het
Other mutations in Mrps6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0569:Mrps6 UTSW 16 92111920 missense possibly damaging 0.91
R1017:Mrps6 UTSW 16 92058458 nonsense probably null
R5258:Mrps6 UTSW 16 92099655 missense probably damaging 1.00
R7322:Mrps6 UTSW 16 92058447 nonsense probably null
Posted On2015-08-05