Incidental Mutation 'IGL03247:Mrps23'
ID414461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps23
Ensembl Gene ENSMUSG00000023723
Gene Namemitochondrial ribosomal protein S23
SynonymsRpms23, 2310047I09Rik, D11Bwg1153e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.920) question?
Stock #IGL03247
Quality Score
Status
Chromosome11
Chromosomal Location88204388-88211507 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 88210096 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000024486] [ENSMUST00000107915] [ENSMUST00000118784] [ENSMUST00000139170]
Predicted Effect probably benign
Transcript: ENSMUST00000024486
SMART Domains Protein: ENSMUSP00000024486
Gene: ENSMUSG00000023723

DomainStartEndE-ValueType
Pfam:MRP-S23 2 130 2e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107915
SMART Domains Protein: ENSMUSP00000103548
Gene: ENSMUSG00000023723

DomainStartEndE-ValueType
Pfam:MRP-S23 2 99 1.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118784
SMART Domains Protein: ENSMUSP00000113512
Gene: ENSMUSG00000023723

DomainStartEndE-ValueType
Pfam:MRP-S23 1 114 1.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139170
SMART Domains Protein: ENSMUSP00000117416
Gene: ENSMUSG00000023723

DomainStartEndE-ValueType
Pfam:MRP-S23 1 114 4.8e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144070
SMART Domains Protein: ENSMUSP00000122963
Gene: ENSMUSG00000023723

DomainStartEndE-ValueType
Pfam:MRP-S23 15 73 8.9e-18 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. A pseudogene corresponding to this gene is found on chromosome 7p. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 T A 14: 55,770,096 I926F probably damaging Het
Agap3 A G 5: 24,487,822 N418D probably damaging Het
Alms1 T C 6: 85,678,597 V3375A possibly damaging Het
Ankrd6 T A 4: 32,860,441 M1L possibly damaging Het
Aox4 A G 1: 58,264,367 D1188G probably damaging Het
Car2 T A 3: 14,887,939 L47Q probably damaging Het
Catsper2 A G 2: 121,410,200 V107A probably benign Het
Catsperg2 T C 7: 29,717,048 N313S possibly damaging Het
Dolk T C 2: 30,285,511 Y174C probably damaging Het
Erfe A G 1: 91,370,425 E219G probably benign Het
Ern2 T C 7: 122,171,671 E733G probably benign Het
Fam159a A T 4: 108,367,901 C155S probably benign Het
Fam228a A G 12: 4,737,734 F13S probably damaging Het
Fancd2 T C 6: 113,568,208 V829A probably benign Het
Gid4 C A 11: 60,432,343 T87N probably benign Het
H2-Ob A G 17: 34,243,492 K152R probably benign Het
Ifna2 T A 4: 88,683,377 T135S probably benign Het
Il1rapl2 G A X: 138,789,680 G298D probably damaging Het
Mbd1 T A 18: 74,274,754 L174* probably null Het
Mga T A 2: 119,935,513 D1341E possibly damaging Het
Mmp12 T A 9: 7,348,631 M54K probably benign Het
Mphosph8 T A 14: 56,678,820 probably null Het
Necab1 C T 4: 14,960,046 M300I probably benign Het
Nid2 G A 14: 19,779,620 D660N probably damaging Het
Olfr693 T A 7: 106,677,547 H313L probably benign Het
Olfr824 T A 10: 130,126,715 E114V probably damaging Het
P2ry13 A T 3: 59,209,592 V255D possibly damaging Het
Peak1 C T 9: 56,257,930 E905K probably damaging Het
Picalm C A 7: 90,194,291 Q550K probably benign Het
Rnf103 T A 6: 71,510,305 V640E possibly damaging Het
Sec31b T G 19: 44,518,940 K817N possibly damaging Het
Skint2 C A 4: 112,626,026 H209Q probably benign Het
Skint5 T C 4: 113,940,808 S193G probably damaging Het
Tacr3 A G 3: 134,930,091 probably benign Het
Tek A G 4: 94,865,443 M1041V possibly damaging Het
Tm4sf1 A G 3: 57,293,015 S89P possibly damaging Het
Tusc3 T A 8: 39,130,777 N299K possibly damaging Het
Washc4 T C 10: 83,564,463 S418P probably benign Het
Other mutations in Mrps23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03081:Mrps23 APN 11 88210217 missense probably benign 0.02
R0183:Mrps23 UTSW 11 88210154 missense probably damaging 1.00
R0347:Mrps23 UTSW 11 88210693 missense probably benign
R0492:Mrps23 UTSW 11 88210685 missense probably benign 0.02
R2698:Mrps23 UTSW 11 88205367 intron probably benign
R2917:Mrps23 UTSW 11 88209917 missense probably damaging 1.00
R3434:Mrps23 UTSW 11 88210114 missense probably damaging 1.00
R7393:Mrps23 UTSW 11 88204458 missense probably damaging 1.00
Posted On2016-08-02