Incidental Mutation 'IGL03247:Mrps23'
ID 414461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps23
Ensembl Gene ENSMUSG00000023723
Gene Name mitochondrial ribosomal protein S23
Synonyms Rpms23, D11Bwg1153e, 2310047I09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # IGL03247
Quality Score
Status
Chromosome 11
Chromosomal Location 88095214-88102333 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 88100922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000024486] [ENSMUST00000107915] [ENSMUST00000118784] [ENSMUST00000139170]
AlphaFold Q8VE22
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: 56,007,553 (GRCm39) I926F probably damaging Het
Agap3 A G 5: 24,692,820 (GRCm39) N418D probably damaging Het
Alms1 T C 6: 85,655,579 (GRCm39) V3375A possibly damaging Het
Ankrd6 T A 4: 32,860,441 (GRCm39) M1L possibly damaging Het
Aox4 A G 1: 58,303,526 (GRCm39) D1188G probably damaging Het
Car2 T A 3: 14,952,999 (GRCm39) L47Q probably damaging Het
Catsper2 A G 2: 121,240,681 (GRCm39) V107A probably benign Het
Catsperg2 T C 7: 29,416,473 (GRCm39) N313S possibly damaging Het
Dolk T C 2: 30,175,523 (GRCm39) Y174C probably damaging Het
Erfe A G 1: 91,298,147 (GRCm39) E219G probably benign Het
Ern2 T C 7: 121,770,894 (GRCm39) E733G probably benign Het
Fam228a A G 12: 4,787,734 (GRCm39) F13S probably damaging Het
Fancd2 T C 6: 113,545,169 (GRCm39) V829A probably benign Het
Gid4 C A 11: 60,323,169 (GRCm39) T87N probably benign Het
H2-Ob A G 17: 34,462,466 (GRCm39) K152R probably benign Het
Ifna2 T A 4: 88,601,614 (GRCm39) T135S probably benign Het
Il1rapl2 G A X: 137,690,429 (GRCm39) G298D probably damaging Het
Mbd1 T A 18: 74,407,825 (GRCm39) L174* probably null Het
Mga T A 2: 119,765,994 (GRCm39) D1341E possibly damaging Het
Mmp12 T A 9: 7,348,631 (GRCm39) M54K probably benign Het
Mphosph8 T A 14: 56,916,277 (GRCm39) probably null Het
Necab1 C T 4: 14,960,046 (GRCm39) M300I probably benign Het
Nid2 G A 14: 19,829,688 (GRCm39) D660N probably damaging Het
Or2ag12 T A 7: 106,276,754 (GRCm39) H313L probably benign Het
Or9r7 T A 10: 129,962,584 (GRCm39) E114V probably damaging Het
P2ry13 A T 3: 59,117,013 (GRCm39) V255D possibly damaging Het
Peak1 C T 9: 56,165,214 (GRCm39) E905K probably damaging Het
Picalm C A 7: 89,843,499 (GRCm39) Q550K probably benign Het
Rnf103 T A 6: 71,487,289 (GRCm39) V640E possibly damaging Het
Sec31b T G 19: 44,507,379 (GRCm39) K817N possibly damaging Het
Shisal2a A T 4: 108,225,098 (GRCm39) C155S probably benign Het
Skint2 C A 4: 112,483,223 (GRCm39) H209Q probably benign Het
Skint5 T C 4: 113,798,005 (GRCm39) S193G probably damaging Het
Tacr3 A G 3: 134,635,852 (GRCm39) probably benign Het
Tek A G 4: 94,753,680 (GRCm39) M1041V possibly damaging Het
Tm4sf1 A G 3: 57,200,436 (GRCm39) S89P possibly damaging Het
Tusc3 T A 8: 39,597,931 (GRCm39) N299K possibly damaging Het
Washc4 T C 10: 83,400,327 (GRCm39) S418P probably benign Het
Other mutations in Mrps23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03081:Mrps23 APN 11 88,101,043 (GRCm39) missense probably benign 0.02
R0183:Mrps23 UTSW 11 88,100,980 (GRCm39) missense probably damaging 1.00
R0347:Mrps23 UTSW 11 88,101,519 (GRCm39) missense probably benign
R0492:Mrps23 UTSW 11 88,101,511 (GRCm39) missense probably benign 0.02
R2698:Mrps23 UTSW 11 88,096,193 (GRCm39) intron probably benign
R2917:Mrps23 UTSW 11 88,100,743 (GRCm39) missense probably damaging 1.00
R3434:Mrps23 UTSW 11 88,100,940 (GRCm39) missense probably damaging 1.00
R7393:Mrps23 UTSW 11 88,095,284 (GRCm39) missense probably damaging 1.00
R9702:Mrps23 UTSW 11 88,100,998 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02