Incidental Mutation 'IGL02571:Mrps18c'
ID298996
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps18c
Ensembl Gene ENSMUSG00000016833
Gene Namemitochondrial ribosomal protein S18C
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02571
Quality Score
Status
Chromosome5
Chromosomal Location100798627-100804471 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100801975 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 74 (D74G)
Ref Sequence ENSEMBL: ENSMUSP00000016977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016977] [ENSMUST00000044535] [ENSMUST00000044684] [ENSMUST00000055245] [ENSMUST00000112898] [ENSMUST00000112901] [ENSMUST00000117364] [ENSMUST00000151201] [ENSMUST00000153302] [ENSMUST00000198453] [ENSMUST00000200657]
Predicted Effect probably damaging
Transcript: ENSMUST00000016977
AA Change: D74G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000016977
Gene: ENSMUSG00000016833
AA Change: D74G

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 70 121 1.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044535
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 probably benign
Transcript: ENSMUST00000055245
SMART Domains Protein: ENSMUSP00000055895
Gene: ENSMUSG00000035234

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112898
AA Change: D74G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000112901
AA Change: D74G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108522
Gene: ENSMUSG00000016833
AA Change: D74G

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 67 119 9.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117364
SMART Domains Protein: ENSMUSP00000114050
Gene: ENSMUSG00000035234

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
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 noncoding transcript
Transcript: ENSMUST00000143477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145429
Predicted Effect probably benign
Transcript: ENSMUST00000151201
SMART Domains Protein: ENSMUSP00000118493
Gene: ENSMUSG00000035266

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197084
Predicted Effect probably benign
Transcript: ENSMUST00000198453
Predicted Effect probably benign
Transcript: ENSMUST00000200657
SMART Domains Protein: ENSMUSP00000143465
Gene: ENSMUSG00000035234

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 T C 14: 60,012,458 probably benign Het
Cacna2d2 G A 9: 107,525,646 E885K possibly damaging Het
Cyp4f17 A G 17: 32,524,904 E352G probably benign Het
Dip2b T C 15: 100,157,885 W373R possibly damaging Het
Fam71b G T 11: 46,405,245 R148L probably damaging Het
Gem C A 4: 11,713,628 Q255K probably benign Het
Herc1 T C 9: 66,434,605 probably benign Het
Herc2 A T 7: 56,153,386 N2161I probably damaging Het
Ift172 A G 5: 31,257,891 F1325L probably damaging Het
Irgc1 T C 7: 24,432,591 K267R probably damaging Het
Kif1a A G 1: 93,020,456 probably null Het
Lifr G T 15: 7,190,111 probably benign Het
Mrpl12 A G 11: 120,485,432 probably null Het
Mtus1 C T 8: 41,083,482 G399D possibly damaging Het
Nf1 T C 11: 79,428,627 I536T probably damaging Het
Olfr1441 C A 19: 12,422,886 S192R possibly damaging Het
Pcdh9 A G 14: 93,560,587 probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rubcnl A T 14: 75,032,136 Q78L possibly damaging Het
Sis C A 3: 72,956,304 probably benign Het
Tbc1d2 T C 4: 46,628,370 M320V probably benign Het
Vmn1r178 C T 7: 23,894,235 T236I probably damaging Het
Xpc T C 6: 91,504,071 D273G probably benign Het
Zfhx4 A C 3: 5,329,523 N1033T probably damaging Het
Zfp646 A G 7: 127,879,412 T254A probably damaging Het
Other mutations in Mrps18c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01673:Mrps18c APN 5 100798806 missense possibly damaging 0.84
IGL01989:Mrps18c APN 5 100801909 missense probably damaging 1.00
R4008:Mrps18c UTSW 5 100803116 unclassified probably benign
R5247:Mrps18c UTSW 5 100798793 missense probably damaging 0.98
R5267:Mrps18c UTSW 5 100803094 nonsense probably null
R7082:Mrps18c UTSW 5 100804404 missense probably damaging 1.00
R8309:Mrps18c UTSW 5 100804398 missense probably damaging 1.00
Posted On2015-04-16