Incidental Mutation 'IGL01673:Mrps18c'
ID 103568
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps18c
Ensembl Gene ENSMUSG00000016833
Gene Name mitochondrial ribosomal protein S18C
Synonyms 1110037D14Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01673
Quality Score
Status
Chromosome 5
Chromosomal Location 100946625-100952333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100946672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 13 (R13G)
Ref Sequence ENSEMBL: ENSMUSP00000108522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016977] [ENSMUST00000044684] [ENSMUST00000112898] [ENSMUST00000112901] [ENSMUST00000151201] [ENSMUST00000198453]
AlphaFold Q8R2L5
Predicted Effect possibly damaging
Transcript: ENSMUST00000016977
AA Change: R13G

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000016977
Gene: ENSMUSG00000016833
AA Change: R13G

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: R13G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000112901
AA Change: R13G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108522
Gene: ENSMUSG00000016833
AA Change: R13G

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: ENSMUST00000151201
SMART Domains Protein: ENSMUSP00000118493
Gene: ENSMUSG00000035266

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000198453
AA Change: R13G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197084
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 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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cpz A T 5: 35,669,891 (GRCm39) V262E probably benign Het
Cyp4f14 A G 17: 33,130,125 (GRCm39) probably null Het
Ddx46 G T 13: 55,800,861 (GRCm39) V339F probably damaging Het
Gpn1 T G 5: 31,652,179 (GRCm39) C21W probably damaging Het
Gpr63 A T 4: 25,008,014 (GRCm39) Q246L probably benign Het
Hsp90b1 T A 10: 86,529,296 (GRCm39) M658L probably damaging Het
Immp2l T C 12: 41,118,320 (GRCm39) S4P probably benign Het
Krtap9-5 A T 11: 99,840,377 (GRCm39) *359C probably null Het
Lgals7 A G 7: 28,565,621 (GRCm39) probably benign Het
Mak G T 13: 41,201,699 (GRCm39) probably null Het
Myo7a A G 7: 97,703,915 (GRCm39) V1946A probably benign Het
Nfyc T C 4: 120,636,307 (GRCm39) probably benign Het
Nkx2-4 C T 2: 146,925,834 (GRCm39) V343M possibly damaging Het
Or5be3 T C 2: 86,863,731 (GRCm39) Y278C probably damaging Het
Or8d2 T C 9: 38,760,316 (GRCm39) V302A probably benign Het
Rapgef4 G T 2: 72,071,781 (GRCm39) S743I probably damaging Het
Tcf7 A G 11: 52,147,823 (GRCm39) C210R probably damaging Het
Ubqln3 T A 7: 103,791,605 (GRCm39) I162F probably benign Het
Vmn1r216 A G 13: 23,283,641 (GRCm39) Q108R probably damaging Het
Vmn1r74 A T 7: 11,581,317 (GRCm39) I206F possibly damaging Het
Wdr64 T C 1: 175,627,922 (GRCm39) I872T possibly damaging Het
Other mutations in Mrps18c
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5247:Mrps18c UTSW 5 100,946,659 (GRCm39) missense probably damaging 0.98
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
Posted On 2014-01-21