Incidental Mutation 'R5267:Mrps18c'
ID 401758
Institutional Source Beutler Lab
Gene Symbol Mrps18c
Ensembl Gene ENSMUSG00000016833
Gene Name mitochondrial ribosomal protein S18C
Synonyms 1110037D14Rik
MMRRC Submission 042859-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5267 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 100946625-100952333 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 100950960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 93 (Y93*)
Ref Sequence ENSEMBL: ENSMUSP00000108522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016977] [ENSMUST00000044535] [ENSMUST00000044684] [ENSMUST00000055245] [ENSMUST00000112898] [ENSMUST00000112901] [ENSMUST00000198453] [ENSMUST00000200657] [ENSMUST00000117364] [ENSMUST00000151201] [ENSMUST00000153302]
AlphaFold Q8R2L5
Predicted Effect probably null
Transcript: ENSMUST00000016977
AA Change: Y93*
SMART Domains Protein: ENSMUSP00000016977
Gene: ENSMUSG00000016833
AA Change: Y93*

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 probably benign
Transcript: ENSMUST00000112898
Predicted Effect probably null
Transcript: ENSMUST00000112901
AA Change: Y93*
SMART Domains Protein: ENSMUSP00000108522
Gene: ENSMUSG00000016833
AA Change: Y93*

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 67 119 9.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145429
Predicted Effect probably benign
Transcript: ENSMUST00000200657
SMART Domains Protein: ENSMUSP00000143465
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 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: ENSMUST00000151201
SMART Domains Protein: ENSMUSP00000118493
Gene: ENSMUSG00000035266

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153302
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 98% (86/88)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,374,933 (GRCm39) probably benign Het
Adam15 T G 3: 89,257,206 (GRCm39) probably benign Het
Albfm1 T C 5: 90,732,716 (GRCm39) F509S probably damaging Het
Atp12a T C 14: 56,621,668 (GRCm39) S768P probably damaging Het
Atp8a1 G A 5: 67,919,887 (GRCm39) T393I probably damaging Het
B4galnt4 T G 7: 140,650,524 (GRCm39) I3S probably damaging Het
Bfsp1 G A 2: 143,668,971 (GRCm39) T536I probably benign Het
Brsk1 G T 7: 4,707,708 (GRCm39) W284L probably damaging Het
Cadm3 A T 1: 173,164,669 (GRCm39) D370E probably damaging Het
Cadps2 A G 6: 23,626,667 (GRCm39) I207T possibly damaging Het
Calr4 A C 4: 109,101,273 (GRCm39) T52P probably damaging Het
Catsperg2 G A 7: 29,416,491 (GRCm39) T307M probably damaging Het
Ckap5 T A 2: 91,422,097 (GRCm39) N1166K probably null Het
Clca4a G A 3: 144,659,573 (GRCm39) T761I probably damaging Het
Cnksr3 A T 10: 7,076,633 (GRCm39) probably null Het
Diaph3 A G 14: 86,893,989 (GRCm39) S7P probably benign Het
Dnah7a G A 1: 53,518,851 (GRCm39) P2969S probably damaging Het
Dnai2 A T 11: 114,631,293 (GRCm39) T221S probably benign Het
Dsc2 A G 18: 20,167,640 (GRCm39) probably null Het
Eif4g1 A G 16: 20,504,283 (GRCm39) N789S probably damaging Het
Fn1 C T 1: 71,668,863 (GRCm39) R694H probably damaging Het
Gm5478 G A 15: 101,552,837 (GRCm39) R365C probably damaging Het
Gm5591 A T 7: 38,218,338 (GRCm39) M845K possibly damaging Het
Gm5800 A T 14: 51,951,294 (GRCm39) probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
H2-Q2 A T 17: 35,562,155 (GRCm39) Y134F probably benign Het
Hcfc1r1 A G 17: 23,893,648 (GRCm39) R76G possibly damaging Het
Hectd4 T C 5: 121,482,887 (GRCm39) I3146T probably benign Het
Herc1 G T 9: 66,369,091 (GRCm39) L2928F probably damaging Het
Hmx3 C T 7: 131,145,898 (GRCm39) A202V probably benign Het
Ikzf3 A T 11: 98,381,406 (GRCm39) M58K probably benign Het
Il20ra A G 10: 19,625,107 (GRCm39) T129A probably damaging Het
Il21 T C 3: 37,281,946 (GRCm39) H66R probably benign Het
Kcnh5 A T 12: 75,134,190 (GRCm39) M453K probably damaging Het
Kdf1 C G 4: 133,256,258 (GRCm39) A325G probably damaging Het
Klhl10 C T 11: 100,338,047 (GRCm39) A262V probably benign Het
Krt81 T A 15: 101,357,340 (GRCm39) N464I probably benign Het
Ksr1 A T 11: 78,911,251 (GRCm39) I698N probably damaging Het
Lrp2 A G 2: 69,379,322 (GRCm39) V130A possibly damaging Het
Mcm2 T C 6: 88,874,432 (GRCm39) T25A probably benign Het
Mycl C T 4: 122,894,289 (GRCm39) A363V probably damaging Het
Mylk2 C A 2: 152,755,469 (GRCm39) A211E probably benign Het
Myo5a G A 9: 75,059,292 (GRCm39) D507N probably damaging Het
Myo7b A G 18: 32,131,787 (GRCm39) F470L probably damaging Het
Oas1a A T 5: 121,037,284 (GRCm39) C248S probably benign Het
Or2ag2b T C 7: 106,418,015 (GRCm39) S242P probably damaging Het
Or4c15b C T 2: 89,112,574 (GRCm39) W301* probably null Het
Or51aa2 T C 7: 103,188,031 (GRCm39) I137V probably benign Het
Or5b116 A G 19: 13,422,475 (GRCm39) Y33C probably damaging Het
Or5m9b T A 2: 85,905,882 (GRCm39) V266E probably benign Het
Or5p67 A G 7: 107,922,185 (GRCm39) S233P probably damaging Het
Or8d1 G A 9: 38,767,101 (GRCm39) V248M probably damaging Het
Otub1 C A 19: 7,177,357 (GRCm39) G67C probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Paqr8 A G 1: 21,004,920 (GRCm39) I25V probably benign Het
Pcdh1 A G 18: 38,325,252 (GRCm39) Y897H probably damaging Het
Pde4d T G 13: 109,397,343 (GRCm39) probably benign Het
Pdzd8 C A 19: 59,289,458 (GRCm39) K647N probably damaging Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Praf2 T C X: 7,596,641 (GRCm39) probably benign Het
Pramel29 A T 4: 143,939,575 (GRCm39) probably benign Het
Psg25 A T 7: 18,258,711 (GRCm39) Y322N possibly damaging Het
Rxrg A G 1: 167,463,335 (GRCm39) E402G probably damaging Het
Selenok T A 14: 29,692,022 (GRCm39) V20E probably benign Het
Sipa1 G A 19: 5,705,786 (GRCm39) T394I probably benign Het
Spag17 A T 3: 99,969,264 (GRCm39) N1247I probably damaging Het
Spata31d1c A G 13: 65,183,718 (GRCm39) D420G probably damaging Het
Syk A G 13: 52,795,962 (GRCm39) K519R probably benign Het
Syne2 A T 12: 75,985,515 (GRCm39) E1654D possibly damaging Het
Tha1 A C 11: 117,760,502 (GRCm39) S241A probably damaging Het
Thsd7a T A 6: 12,379,601 (GRCm39) E941V probably damaging Het
Tjp1 T C 7: 64,972,797 (GRCm39) T548A probably damaging Het
Tube1 C A 10: 39,020,552 (GRCm39) D210E probably benign Het
Vmn1r183 T A 7: 23,754,971 (GRCm39) I258N possibly damaging Het
Vmn1r89 A T 7: 12,954,140 (GRCm39) N292I probably damaging Het
Vmp1 C A 11: 86,554,377 (GRCm39) V79L probably benign Het
Zfp182 T A X: 20,902,605 (GRCm39) D125V possibly damaging Het
Zfp975 T G 7: 42,311,654 (GRCm39) T320P probably damaging Het
Znrf1 G A 8: 112,263,899 (GRCm39) A43T probably benign 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
R5247:Mrps18c UTSW 5 100,946,659 (GRCm39) missense probably damaging 0.98
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'- AAGATGGCTTGTTGCTACAAAG -3'
(R):5'- TTGCCAGTCTCCCGAAATAAC -3'

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