Incidental Mutation 'R5600:Mrps18a'
ID 439004
Institutional Source Beutler Lab
Gene Symbol Mrps18a
Ensembl Gene ENSMUSG00000023967
Gene Name mitochondrial ribosomal protein S18A
Synonyms 1110004O20Rik
MMRRC Submission 043152-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.884) question?
Stock # R5600 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 46421930-46439834 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 46436575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 128 (L128*)
Ref Sequence ENSEMBL: ENSMUSP00000122433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024762] [ENSMUST00000024763] [ENSMUST00000123646]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024762
SMART Domains Protein: ENSMUSP00000024762
Gene: ENSMUSG00000023966

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:Radial_spoke 203 276 1.7e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000024763
AA Change: L128*
SMART Domains Protein: ENSMUSP00000024763
Gene: ENSMUSG00000023967
AA Change: L128*

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 75 128 6.8e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000123646
AA Change: L128*
SMART Domains Protein: ENSMUSP00000122433
Gene: ENSMUSG00000023967
AA Change: L128*

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 75 128 4.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147672
Predicted Effect probably benign
Transcript: ENSMUST00000148581
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.0%
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 S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol11b A C 15: 77,519,288 (GRCm39) M264R probably damaging Het
Asprv1 G T 6: 86,606,044 (GRCm39) E297* probably null Het
Atp6v1c1 T C 15: 38,687,107 (GRCm39) V234A probably benign Het
Ccp110 G A 7: 118,328,948 (GRCm39) probably null Het
Cfap251 T C 5: 123,426,761 (GRCm39) V383A possibly damaging Het
Fgfrl1 T C 5: 108,853,168 (GRCm39) C173R probably damaging Het
Gm5431 G A 11: 48,785,583 (GRCm39) T264M possibly damaging Het
Golga1 T C 2: 38,910,111 (GRCm39) E637G probably damaging Het
Gpr158 A G 2: 21,832,046 (GRCm39) T1049A probably benign Het
Hcn4 T A 9: 58,766,576 (GRCm39) probably null Het
Krt86 G A 15: 101,374,386 (GRCm39) V260I probably benign Het
Ktn1 A T 14: 47,927,490 (GRCm39) Q548L probably damaging Het
Lingo4 A T 3: 94,309,220 (GRCm39) I53F probably benign Het
Lrrk1 A C 7: 65,956,963 (GRCm39) I336S probably benign Het
Magel2 G T 7: 62,029,514 (GRCm39) G806V unknown Het
Mrc2 T A 11: 105,224,492 (GRCm39) S501T probably damaging Het
Mtor G T 4: 148,575,927 (GRCm39) L1360F probably damaging Het
Mtpap A G 18: 4,379,674 (GRCm39) E88G probably damaging Het
Myo5c A G 9: 75,196,436 (GRCm39) K1294R probably benign Het
Or10al2 G A 17: 37,983,176 (GRCm39) M87I possibly damaging Het
Pik3c3 G A 18: 30,444,346 (GRCm39) V520M probably damaging Het
Pptc7 T A 5: 122,458,918 (GRCm39) V305E probably damaging Het
Ptgfrn T C 3: 100,963,566 (GRCm39) D682G probably damaging Het
Rfx6 A T 10: 51,599,157 (GRCm39) Q538L probably damaging Het
Sbk1 G A 7: 125,891,415 (GRCm39) R283H probably damaging Het
Sfswap T C 5: 129,590,222 (GRCm39) F240L probably damaging Het
Siglec1 T A 2: 130,927,503 (GRCm39) H101L probably benign Het
Smg1 A G 7: 117,767,107 (GRCm39) probably benign Het
Spink5 A G 18: 44,151,778 (GRCm39) T986A probably damaging Het
Stat1 T A 1: 52,188,101 (GRCm39) S496T probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tenm2 C T 11: 36,054,541 (GRCm39) probably null Het
Tiam1 G T 16: 89,662,253 (GRCm39) R622S probably damaging Het
Vmn2r109 C A 17: 20,761,189 (GRCm39) D723Y probably damaging Het
Vmn2r70 G T 7: 85,212,935 (GRCm39) Q491K probably benign Het
Wnk1 A C 6: 119,926,319 (GRCm39) S1297R probably damaging Het
Zan C T 5: 137,385,233 (GRCm39) V5067I unknown Het
Zfp108 A G 7: 23,960,011 (GRCm39) S201G probably benign Het
Other mutations in Mrps18a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02735:Mrps18a APN 17 46,433,725 (GRCm39) missense probably damaging 1.00
R4589:Mrps18a UTSW 17 46,428,899 (GRCm39) critical splice donor site probably null
R5086:Mrps18a UTSW 17 46,436,621 (GRCm39) missense probably benign 0.01
R5369:Mrps18a UTSW 17 46,436,552 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- AGTACCCAAGACTCAGAGGG -3'
(R):5'- CCATGCAGGAAAGGTTCAGG -3'

Sequencing Primer
(F):5'- TTCCCAGCCAGCTGTCACAG -3'
(R):5'- CAGGAAAGGTTCAGGTGTGTG -3'
Posted On 2016-10-26