Incidental Mutation 'IGL01604:Mrps28'
ID92672
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps28
Ensembl Gene ENSMUSG00000040269
Gene Namemitochondrial ribosomal protein S28
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.507) question?
Stock #IGL01604
Quality Score
Status
Chromosome3
Chromosomal Location8802146-8923918 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 8900070 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 103 (I103T)
Ref Sequence ENSEMBL: ENSMUSP00000038305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042148]
Predicted Effect probably damaging
Transcript: ENSMUST00000042148
AA Change: I103T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038305
Gene: ENSMUSG00000040269
AA Change: I103T

DomainStartEndE-ValueType
S1 94 158 1.69e0 SMART
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 has been called mitochondrial ribosomal protein S35 in the literature. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,155,324 N1792D probably benign Het
Abca5 T A 11: 110,277,636 I1416L possibly damaging Het
Abcc4 A T 14: 118,527,994 M992K possibly damaging Het
Adnp A G 2: 168,184,338 S346P probably damaging Het
Atad2b A T 12: 4,965,837 probably benign Het
Ccl12 A G 11: 82,103,233 *105W probably null Het
Chd1 A G 17: 15,770,097 D1637G possibly damaging Het
Cpeb2 T C 5: 43,278,695 probably null Het
Cul4a T C 8: 13,133,843 probably null Het
Dlg1 T A 16: 31,856,438 probably benign Het
Fam171b A G 2: 83,879,600 T539A possibly damaging Het
Gif A G 19: 11,757,762 T249A probably benign Het
Gm9696 A C 3: 59,972,302 noncoding transcript Het
Jmjd1c T C 10: 67,249,762 F2444L probably damaging Het
Knl1 T A 2: 119,070,001 F728I probably damaging Het
Megf9 C A 4: 70,448,791 C318F probably null Het
Mpi G A 9: 57,550,742 A59V possibly damaging Het
Msantd2 G A 9: 37,522,848 R329H probably benign Het
Myh7b C T 2: 155,632,407 L1681F probably damaging Het
Nf1 C T 11: 79,441,709 probably benign Het
Olfr1302 A G 2: 111,780,590 K90R possibly damaging Het
Olfr1475 G A 19: 13,479,248 probably benign Het
Rapgef6 G A 11: 54,694,563 E1596K probably damaging Het
Serpinb3b T C 1: 107,154,724 E270G probably benign Het
Skor2 C A 18: 76,859,951 A456E possibly damaging Het
Slc13a2 A G 11: 78,403,395 I220T possibly damaging Het
Slc6a1 T A 6: 114,314,401 M361K probably damaging Het
Tars2 G A 3: 95,740,278 R608C probably damaging Het
Tctn3 T C 19: 40,605,302 probably null Het
Tex14 A G 11: 87,509,698 I439V possibly damaging Het
Thbs2 T A 17: 14,678,769 I690F probably benign Het
Vwa8 A G 14: 79,180,804 I1684V possibly damaging Het
Xdh T C 17: 73,909,337 I705V probably benign Het
Other mutations in Mrps28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01895:Mrps28 APN 3 8900059 missense probably damaging 1.00
R1423:Mrps28 UTSW 3 8900124 missense probably benign 0.00
R1462:Mrps28 UTSW 3 8900124 missense possibly damaging 0.50
R1462:Mrps28 UTSW 3 8900124 missense possibly damaging 0.50
R3034:Mrps28 UTSW 3 8923615 missense probably benign 0.03
R4917:Mrps28 UTSW 3 8882554 intron probably benign
R4918:Mrps28 UTSW 3 8882554 intron probably benign
R5119:Mrps28 UTSW 3 8923696 missense possibly damaging 0.77
R6012:Mrps28 UTSW 3 8899984 critical splice donor site probably null
R6029:Mrps28 UTSW 3 8923745 missense possibly damaging 0.56
R6229:Mrps28 UTSW 3 8900037 missense probably damaging 1.00
R6459:Mrps28 UTSW 3 8899980 splice site probably null
R7845:Mrps28 UTSW 3 8923715 missense possibly damaging 0.48
Z1177:Mrps28 UTSW 3 8923746 missense probably damaging 0.98
Posted On2013-12-09