Incidental Mutation 'R5086:Mrps18a'
ID 387479
Institutional Source Beutler Lab
Gene Symbol Mrps18a
Ensembl Gene ENSMUSG00000023967
Gene Name mitochondrial ribosomal protein S18A
Synonyms 1110004O20Rik
MMRRC Submission 042675-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # R5086 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46421930-46439834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46436621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 143 (D143E)
Ref Sequence ENSEMBL: ENSMUSP00000024763 (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 benign
Transcript: ENSMUST00000024763
AA Change: D143E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000024763
Gene: ENSMUSG00000023967
AA Change: D143E

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 75 128 6.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123646
AA Change: D143E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000122433
Gene: ENSMUSG00000023967
AA Change: D143E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 99% (80/81)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adsl T A 15: 80,847,901 (GRCm39) M278K probably damaging Het
Ago1 T C 4: 126,347,397 (GRCm39) I147V probably benign Het
Ank1 T C 8: 23,578,634 (GRCm39) L261P probably damaging Het
Ank2 T C 3: 126,740,997 (GRCm39) probably benign Het
Ap1b1 T C 11: 4,968,020 (GRCm39) V177A possibly damaging Het
Arhgap21 A G 2: 20,853,645 (GRCm39) S1906P probably benign Het
Asb1 A G 1: 91,482,533 (GRCm39) Y214C probably benign Het
BC049715 C T 6: 136,817,429 (GRCm39) T223M probably damaging Het
C1ra T A 6: 124,496,688 (GRCm39) C375S probably damaging Het
Cdh26 C T 2: 178,083,210 (GRCm39) R26* probably null Het
Chordc1 A G 9: 18,224,131 (GRCm39) M304V probably benign Het
Cpne8 T C 15: 90,532,771 (GRCm39) probably benign Het
Cracd A G 5: 77,004,971 (GRCm39) E444G unknown Het
Csf1 T C 3: 107,656,026 (GRCm39) E335G possibly damaging Het
Ctnnd2 C T 15: 30,683,493 (GRCm39) P498L possibly damaging Het
Cyp4f18 C T 8: 72,756,276 (GRCm39) R100H probably benign Het
Dnaaf2 G A 12: 69,244,060 (GRCm39) R334C probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dock10 A G 1: 80,529,189 (GRCm39) S1071P possibly damaging Het
Dtnb T C 12: 3,682,942 (GRCm39) V7A probably benign Het
Eif1 T C 11: 100,211,552 (GRCm39) I62T probably damaging Het
Fbxo44 T A 4: 148,240,669 (GRCm39) T145S probably benign Het
G530012D18Rik G C 1: 85,504,941 (GRCm39) probably benign Het
Gabbr2 A T 4: 46,724,342 (GRCm39) M17K probably damaging Het
Gm5860 T A 4: 81,984,173 (GRCm39) noncoding transcript Het
Gm7964 T A 7: 83,406,560 (GRCm39) F439Y possibly damaging Het
Gpbp1l1 C A 4: 116,445,789 (GRCm39) T297N probably benign Het
Greb1 C T 12: 16,758,023 (GRCm39) probably benign Het
Gvin3 A T 7: 106,197,234 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,231,053 (GRCm39) probably benign Het
Ighv16-1 T A 12: 114,032,510 (GRCm39) L97F probably benign Het
Il21r A G 7: 125,232,027 (GRCm39) D485G probably damaging Het
Inpp5d A G 1: 87,633,686 (GRCm39) H441R probably damaging Het
Iqgap2 G T 13: 95,772,088 (GRCm39) R1364S probably benign Het
Krtap20-2 G T 16: 89,002,806 (GRCm39) C2F unknown Het
Man2c1 T A 9: 57,038,924 (GRCm39) D111E probably damaging Het
Map1a G A 2: 121,134,985 (GRCm39) E1696K probably damaging Het
Mdc1 T A 17: 36,159,522 (GRCm39) V634E probably benign Het
Mgam2-ps A G 6: 40,800,547 (GRCm39) noncoding transcript Het
Mllt3 T A 4: 87,707,535 (GRCm39) N68Y probably damaging Het
Myl12a T C 17: 71,301,611 (GRCm39) D172G possibly damaging Het
Notch3 T C 17: 32,362,308 (GRCm39) N1439S probably benign Het
Npepps T C 11: 97,108,625 (GRCm39) M764V probably benign Het
Or8d2b T C 9: 38,789,087 (GRCm39) L205P probably damaging Het
Paxbp1 A T 16: 90,812,104 (GRCm39) probably benign Het
Pcdhb7 A T 18: 37,476,162 (GRCm39) T433S possibly damaging Het
Pcdhb8 A T 18: 37,489,159 (GRCm39) Y279F probably damaging Het
Pim3 T C 15: 88,748,606 (GRCm39) L235P probably damaging Het
Plekha4 C T 7: 45,203,082 (GRCm39) S685F possibly damaging Het
Plekhg1 C A 10: 3,853,649 (GRCm39) H167Q probably damaging Het
Plekhn1 G C 4: 156,306,881 (GRCm39) P503A probably benign Het
Sar1a T C 10: 61,527,125 (GRCm39) L181P probably damaging Het
Sec22a G T 16: 35,168,112 (GRCm39) S133* probably null Het
Sipa1l3 G A 7: 29,048,000 (GRCm39) S247F probably damaging Het
Slc31a1 T C 4: 62,306,190 (GRCm39) S103P probably damaging Het
Spag6 A C 2: 18,747,688 (GRCm39) probably benign Het
Stab1 T A 14: 30,865,581 (GRCm39) D1769V probably damaging Het
Stab1 G A 14: 30,881,261 (GRCm39) L590F probably damaging Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Tbc1d2b A G 9: 90,109,510 (GRCm39) L322P probably benign Het
Tdrp T C 8: 14,024,590 (GRCm39) E18G possibly damaging Het
Tlr3 T A 8: 45,855,862 (GRCm39) N106I probably damaging Het
Tmem104 T A 11: 115,092,227 (GRCm39) I112N probably damaging Het
Tmem14c C T 13: 41,174,598 (GRCm39) T69I probably benign Het
Tmprss11g G A 5: 86,644,377 (GRCm39) P156S possibly damaging Het
Ttn A T 2: 76,700,947 (GRCm39) probably benign Het
Vmn1r45 A T 6: 89,910,082 (GRCm39) I296N probably benign Het
Vmn2r1 T A 3: 63,997,418 (GRCm39) V358D probably benign Het
Zc3h7b T C 15: 81,677,375 (GRCm39) L892P probably damaging Het
Zfp366 A G 13: 99,365,451 (GRCm39) Q204R probably benign Het
Zfp598 C A 17: 24,899,872 (GRCm39) 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
R5369:Mrps18a UTSW 17 46,436,552 (GRCm39) intron probably benign
R5600:Mrps18a UTSW 17 46,436,575 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGTGAGCGCATTCACTTGTG -3'
(R):5'- GTGGCAAACATCATACAGTACAG -3'

Sequencing Primer
(F):5'- GCATTCACTTGTGCGCAC -3'
(R):5'- TCATACAGTACAGCCATGCAGG -3'
Posted On 2016-06-06