Incidental Mutation 'R5247:Mrps18c'
ID 401183
Institutional Source Beutler Lab
Gene Symbol Mrps18c
Ensembl Gene ENSMUSG00000016833
Gene Name mitochondrial ribosomal protein S18C
Synonyms 1110037D14Rik
MMRRC Submission 042818-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5247 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 100946625-100952333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 100946659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 8 (C8W)
Ref Sequence ENSEMBL: ENSMUSP00000108522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016977] [ENSMUST00000044684] [ENSMUST00000112898] [ENSMUST00000112901] [ENSMUST00000198453] [ENSMUST00000151201]
AlphaFold Q8R2L5
Predicted Effect possibly damaging
Transcript: ENSMUST00000016977
AA Change: C8W

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000016977
Gene: ENSMUSG00000016833
AA Change: C8W

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 70 121 1.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044684
SMART Domains Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
DEXDc 291 486 3.05e-17 SMART
HELICc 585 671 2.54e-14 SMART
low complexity region 812 827 N/A INTRINSIC
low complexity region 881 892 N/A INTRINSIC
low complexity region 1029 1042 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112898
AA Change: C8W

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000112901
AA Change: C8W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108522
Gene: ENSMUSG00000016833
AA Change: C8W

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 67 119 9.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133845
SMART Domains Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
DEXDc 290 485 3.05e-17 SMART
HELICc 584 670 2.54e-14 SMART
low complexity region 811 826 N/A INTRINSIC
low complexity region 932 945 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140296
Predicted Effect probably benign
Transcript: ENSMUST00000198453
AA Change: C8W

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197084
Predicted Effect probably benign
Transcript: ENSMUST00000151201
SMART Domains Protein: ENSMUSP00000118493
Gene: ENSMUSG00000035266

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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. Pseudogenes corresponding to this gene are found on chromosomes 8p, 12p, 15q, and 22q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar A T 1: 72,719,343 (GRCm39) V502E probably benign Het
Atad2 A T 15: 57,967,874 (GRCm39) L585* probably null Het
Atp6v0a2 T C 5: 124,790,241 (GRCm39) S475P probably damaging Het
Cacng1 T C 11: 107,607,105 (GRCm39) H38R probably benign Het
Ccdc168 A C 1: 44,096,166 (GRCm39) L1644* probably null Het
Celsr2 A G 3: 108,304,946 (GRCm39) V2168A probably benign Het
Cnot4 C T 6: 35,028,351 (GRCm39) V422I probably damaging Het
Col1a1 T C 11: 94,838,013 (GRCm39) probably null Het
Cspg4b A T 13: 113,455,993 (GRCm39) I680F probably damaging Het
Ctcfl A T 2: 172,955,402 (GRCm39) C287S probably damaging Het
Eps8l1 T A 7: 4,473,401 (GRCm39) D133E probably damaging Het
Fam161b A G 12: 84,404,524 (GRCm39) L52P probably damaging Het
Fam98c T C 7: 28,855,126 (GRCm39) E99G possibly damaging Het
Fmn2 A T 1: 174,648,794 (GRCm39) I1574L probably benign Het
Gabrb3 T A 7: 57,240,339 (GRCm39) L8Q possibly damaging Het
Hck A T 2: 152,976,615 (GRCm39) K250* probably null Het
Herc1 A G 9: 66,341,833 (GRCm39) E1874G probably benign Het
Igf2 G T 7: 142,207,668 (GRCm39) A143D possibly damaging Het
Isg20l2 A G 3: 87,838,920 (GRCm39) N44D possibly damaging Het
Kdm7a T A 6: 39,121,390 (GRCm39) Q855L probably benign Het
Kif15 T C 9: 122,815,507 (GRCm39) S434P possibly damaging Het
Klrc3 A T 6: 129,618,425 (GRCm39) N119K probably damaging Het
L3mbtl3 T C 10: 26,203,706 (GRCm39) M375V unknown Het
Lpcat4 A G 2: 112,072,860 (GRCm39) H173R possibly damaging Het
Mapk13 A T 17: 28,996,725 (GRCm39) Q264L probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nlrp4b T A 7: 10,448,145 (GRCm39) I116N probably benign Het
Or10h1 A G 17: 33,418,504 (GRCm39) T161A probably benign Het
Or5b124 T A 19: 13,610,778 (GRCm39) F101Y probably damaging Het
Prdm1 A T 10: 44,316,098 (GRCm39) H679Q probably damaging Het
Prickle2 T A 6: 92,352,950 (GRCm39) S839C probably damaging Het
Rps19 T A 7: 24,584,878 (GRCm39) S36T probably damaging Het
Serpinb1a T A 13: 33,034,389 (GRCm39) M1L probably damaging Het
Slc16a7 A T 10: 125,067,183 (GRCm39) M152K probably damaging Het
Srpk3 C T X: 72,818,555 (GRCm39) R82* probably null Het
Stx18 A T 5: 38,263,977 (GRCm39) Y141F probably damaging Het
Tgfb2 A T 1: 186,382,111 (GRCm39) probably null Het
Tle7 T C 8: 110,837,209 (GRCm39) F299S probably damaging Het
Tmem151b A T 17: 45,856,571 (GRCm39) Y290N probably damaging Het
Ttn G A 2: 76,558,766 (GRCm39) T29705M probably damaging Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Usp19 T G 9: 108,373,264 (GRCm39) probably null Het
Other mutations in Mrps18c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01673:Mrps18c APN 5 100,946,672 (GRCm39) missense possibly damaging 0.84
IGL01989:Mrps18c APN 5 100,949,775 (GRCm39) missense probably damaging 1.00
IGL02571:Mrps18c APN 5 100,949,841 (GRCm39) missense probably damaging 1.00
R4008:Mrps18c UTSW 5 100,950,982 (GRCm39) unclassified probably benign
R5267:Mrps18c UTSW 5 100,950,960 (GRCm39) nonsense probably null
R7082:Mrps18c UTSW 5 100,952,270 (GRCm39) missense probably damaging 1.00
R8309:Mrps18c UTSW 5 100,952,264 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTTTCCATCCCTCAGCAG -3'
(R):5'- CTCAAAGTCCTCTTCAGCTCTAGG -3'

Sequencing Primer
(F):5'- ATCCCTCAGCAGCGCAG -3'
(R):5'- TAGGAAACTAGTCTACGATGACTCG -3'
Posted On 2016-07-06