Incidental Mutation 'R8145:Mrps18b'
ID 632786
Institutional Source Beutler Lab
Gene Symbol Mrps18b
Ensembl Gene ENSMUSG00000024436
Gene Name mitochondrial ribosomal protein S18B
Synonyms 2400002C15Rik
MMRRC Submission 067573-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R8145 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 36221271-36227281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36225293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 94 (R94L)
Ref Sequence ENSEMBL: ENSMUSP00000025305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025305] [ENSMUST00000056034] [ENSMUST00000061052] [ENSMUST00000077494] [ENSMUST00000087210] [ENSMUST00000087211] [ENSMUST00000113782] [ENSMUST00000141132] [ENSMUST00000141662] [ENSMUST00000149277] [ENSMUST00000151664] [ENSMUST00000174807]
AlphaFold Q99N84
Predicted Effect possibly damaging
Transcript: ENSMUST00000025305
AA Change: R94L

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025305
Gene: ENSMUSG00000024436
AA Change: R94L

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 109 161 8.1e-18 PFAM
low complexity region 196 207 N/A INTRINSIC
low complexity region 208 217 N/A INTRINSIC
low complexity region 224 245 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000056034
SMART Domains Protein: ENSMUSP00000053853
Gene: ENSMUSG00000024426

DomainStartEndE-ValueType
low complexity region 23 36 N/A INTRINSIC
Pfam:Mec-17 72 192 1.5e-57 PFAM
low complexity region 232 249 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061052
SMART Domains Protein: ENSMUSP00000056383
Gene: ENSMUSG00000024426

DomainStartEndE-ValueType
low complexity region 23 36 N/A INTRINSIC
Pfam:Mec-17 74 191 1.5e-53 PFAM
Pfam:Acetyltransf_1 88 157 6.8e-5 PFAM
low complexity region 209 228 N/A INTRINSIC
low complexity region 255 272 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077494
SMART Domains Protein: ENSMUSP00000076703
Gene: ENSMUSG00000024426

DomainStartEndE-ValueType
low complexity region 23 36 N/A INTRINSIC
Pfam:Mec-17 72 192 2.5e-57 PFAM
low complexity region 232 249 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087210
SMART Domains Protein: ENSMUSP00000084460
Gene: ENSMUSG00000039220

DomainStartEndE-ValueType
TFS2N 74 146 2.23e-22 SMART
low complexity region 154 165 N/A INTRINSIC
low complexity region 179 196 N/A INTRINSIC
low complexity region 248 259 N/A INTRINSIC
low complexity region 303 310 N/A INTRINSIC
low complexity region 335 346 N/A INTRINSIC
low complexity region 355 363 N/A INTRINSIC
PDB:4MP0|D 393 433 8e-22 PDB
low complexity region 502 517 N/A INTRINSIC
low complexity region 540 552 N/A INTRINSIC
low complexity region 566 578 N/A INTRINSIC
low complexity region 621 639 N/A INTRINSIC
low complexity region 644 759 N/A INTRINSIC
low complexity region 781 812 N/A INTRINSIC
low complexity region 815 853 N/A INTRINSIC
ZnF_C3H1 855 881 5.76e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000087211
SMART Domains Protein: ENSMUSP00000084461
Gene: ENSMUSG00000039220

DomainStartEndE-ValueType
TFS2N 74 146 2.23e-22 SMART
low complexity region 154 165 N/A INTRINSIC
low complexity region 179 196 N/A INTRINSIC
low complexity region 248 259 N/A INTRINSIC
low complexity region 303 310 N/A INTRINSIC
low complexity region 335 346 N/A INTRINSIC
low complexity region 355 363 N/A INTRINSIC
PDB:4MP0|D 393 433 8e-22 PDB
low complexity region 502 517 N/A INTRINSIC
low complexity region 540 552 N/A INTRINSIC
low complexity region 566 578 N/A INTRINSIC
low complexity region 621 639 N/A INTRINSIC
low complexity region 644 759 N/A INTRINSIC
low complexity region 781 812 N/A INTRINSIC
low complexity region 815 853 N/A INTRINSIC
ZnF_C3H1 855 881 5.76e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113782
SMART Domains Protein: ENSMUSP00000109412
Gene: ENSMUSG00000024436

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 18 69 5.1e-16 PFAM
low complexity region 104 115 N/A INTRINSIC
low complexity region 116 125 N/A INTRINSIC
low complexity region 132 153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137182
Predicted Effect probably benign
Transcript: ENSMUST00000141132
SMART Domains Protein: ENSMUSP00000117824
Gene: ENSMUSG00000024426

DomainStartEndE-ValueType
Pfam:Mec-17 29 149 9.1e-59 PFAM
low complexity region 166 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141662
SMART Domains Protein: ENSMUSP00000115004
Gene: ENSMUSG00000024426

DomainStartEndE-ValueType
low complexity region 23 36 N/A INTRINSIC
Pfam:Mec-17 72 192 1.7e-57 PFAM
low complexity region 209 228 N/A INTRINSIC
low complexity region 255 272 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149277
SMART Domains Protein: ENSMUSP00000122715
Gene: ENSMUSG00000024426

DomainStartEndE-ValueType
low complexity region 23 36 N/A INTRINSIC
Pfam:Mec-17 72 192 2e-57 PFAM
low complexity region 209 228 N/A INTRINSIC
low complexity region 255 272 N/A INTRINSIC
low complexity region 319 330 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151664
Predicted Effect
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000174807
AA Change: R83L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133584
Gene: ENSMUSG00000024436
AA Change: R83L

DomainStartEndE-ValueType
SCOP:d1fjgr_ 91 128 1e-8 SMART
low complexity region 130 141 N/A INTRINSIC
low complexity region 142 151 N/A INTRINSIC
low complexity region 158 179 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 90.4%
Validation Efficiency 100% (79/79)
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 1q and 2q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 A T 4: 99,634,564 (GRCm39) D273V probably damaging Het
Ankk1 T A 9: 49,327,097 (GRCm39) H694L possibly damaging Het
Asb7 G T 7: 66,309,696 (GRCm39) N173K probably benign Het
Atp10b A T 11: 43,092,949 (GRCm39) Q428L probably damaging Het
Bag3 A G 7: 128,147,612 (GRCm39) E409G possibly damaging Het
Bltp1 T C 3: 37,052,416 (GRCm39) S3039P probably damaging Het
Bpifb2 T A 2: 153,733,232 (GRCm39) V398E probably damaging Het
Btf3l4b A T 13: 96,217,649 (GRCm39) D63E probably benign Het
Ccr6 T C 17: 8,474,945 (GRCm39) V50A probably benign Het
Cdcp3 G T 7: 130,898,045 (GRCm39) V2088L unknown Het
Cdx1 T C 18: 61,152,995 (GRCm39) N204D probably damaging Het
Ciao1 T C 2: 127,087,726 (GRCm39) D203G possibly damaging Het
Cldn7 A T 11: 69,856,892 (GRCm39) Y47F possibly damaging Het
Col6a1 A T 10: 76,559,305 (GRCm39) D110E possibly damaging Het
Cpne6 C A 14: 55,752,025 (GRCm39) Q261K probably benign Het
Crebbp T C 16: 3,946,389 (GRCm39) T497A probably benign Het
Cyp2s1 A G 7: 25,507,467 (GRCm39) probably null Het
Ddx42 A T 11: 106,130,887 (GRCm39) I454F possibly damaging Het
Ddx5 G T 11: 106,672,911 (GRCm39) A538E probably benign Het
Dnajb1 T A 8: 84,336,944 (GRCm39) V238D probably damaging Het
Dntt A G 19: 41,044,224 (GRCm39) Y463C probably damaging Het
Eif4b A G 15: 102,001,423 (GRCm39) T437A unknown Het
Eppk1 T C 15: 75,990,900 (GRCm39) T1994A possibly damaging Het
Fbxw15 A T 9: 109,384,658 (GRCm39) C381S probably benign Het
Fosl2 T A 5: 32,310,412 (GRCm39) V287D probably damaging Het
Gdpd4 A G 7: 97,690,077 (GRCm39) T590A probably benign Het
Gm49368 A G 7: 127,712,487 (GRCm39) E877G probably null Het
Grin2b C T 6: 135,709,497 (GRCm39) A1350T probably benign Het
Gzmk A G 13: 113,308,430 (GRCm39) L257P probably damaging Het
Has2 T A 15: 56,545,175 (GRCm39) K142N probably benign Het
Hectd1 T C 12: 51,831,016 (GRCm39) E944G possibly damaging Het
Hmcn1 T C 1: 150,629,411 (GRCm39) R949G probably benign Het
Hmcn2 A G 2: 31,313,117 (GRCm39) E3442G probably damaging Het
Irf9 T A 14: 55,843,255 (GRCm39) C152* probably null Het
Itga3 A G 11: 94,943,290 (GRCm39) W936R probably damaging Het
Klhl11 G T 11: 100,354,740 (GRCm39) D360E probably damaging Het
Lnx1 G A 5: 74,846,060 (GRCm39) T130I probably benign Het
Lrrc36 C T 8: 106,170,396 (GRCm39) P82L probably damaging Het
Map4k4 T C 1: 40,039,694 (GRCm39) C29R Het
Mki67 T C 7: 135,296,065 (GRCm39) K2990E probably benign Het
Mnt G A 11: 74,733,799 (GRCm39) A477T unknown Het
Mroh9 A G 1: 162,890,096 (GRCm39) S214P probably benign Het
Myh6 T A 14: 55,191,382 (GRCm39) I820F probably benign Het
Nphp3 A G 9: 103,913,050 (GRCm39) T943A probably benign Het
Or51a25 C A 7: 102,372,937 (GRCm39) L253F probably damaging Het
Or52b4i A G 7: 102,191,830 (GRCm39) H229R probably benign Het
Papolb T C 5: 142,514,353 (GRCm39) D430G probably benign Het
Pdzd2 T C 15: 12,407,458 (GRCm39) H334R probably benign Het
Pkd1l2 T A 8: 117,781,742 (GRCm39) M768L probably benign Het
Pklr G T 3: 89,052,795 (GRCm39) R547L probably benign Het
Pla2g4a T C 1: 149,716,394 (GRCm39) Y697C probably benign Het
Prkcd T C 14: 30,324,019 (GRCm39) T435A probably benign Het
Rfx1 C T 8: 84,800,657 (GRCm39) P86L probably benign Het
Rnf19b C A 4: 128,977,862 (GRCm39) A693D probably benign Het
Scn9a A G 2: 66,317,754 (GRCm39) I1578T probably damaging Het
Slamf9 A G 1: 172,303,942 (GRCm39) S96G probably benign Het
Slc17a8 T C 10: 89,412,233 (GRCm39) D584G probably benign Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc2a7 C A 4: 150,252,818 (GRCm39) T486K probably damaging Het
Slc6a20a G A 9: 123,466,065 (GRCm39) A592V probably damaging Het
Spz1 T C 13: 92,711,609 (GRCm39) D289G probably benign Het
Sspo G A 6: 48,444,683 (GRCm39) C2226Y possibly damaging Het
Taf4b T G 18: 14,963,085 (GRCm39) D608E probably damaging Het
Tagap1 A T 17: 7,223,526 (GRCm39) I390N probably damaging Het
Tcp11l2 A G 10: 84,444,480 (GRCm39) N430D probably damaging Het
Thsd7b T C 1: 129,688,036 (GRCm39) L649P probably damaging Het
Tmprss15 C T 16: 78,757,473 (GRCm39) G956R probably damaging Het
Tnc G T 4: 63,935,716 (GRCm39) Q407K probably benign Het
Tti1 C A 2: 157,849,509 (GRCm39) E577* probably null Het
Vmn2r79 A T 7: 86,686,862 (GRCm39) M748L probably benign Het
Zbtb37 C T 1: 160,847,654 (GRCm39) R451Q probably damaging Het
Zfp1002 T C 2: 150,096,455 (GRCm39) K325E probably benign Het
Zfp566 A T 7: 29,777,785 (GRCm39) I132N probably benign Het
Zik1 C T 7: 10,223,930 (GRCm39) G389E probably damaging Het
Zzef1 A T 11: 72,799,295 (GRCm39) K2382* probably null Het
Other mutations in Mrps18b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2862:Mrps18b UTSW 17 36,221,746 (GRCm39) missense probably benign 0.04
R3733:Mrps18b UTSW 17 36,221,759 (GRCm39) missense probably damaging 1.00
R3912:Mrps18b UTSW 17 36,221,831 (GRCm39) missense probably benign 0.07
R5485:Mrps18b UTSW 17 36,225,236 (GRCm39) missense probably damaging 1.00
R5510:Mrps18b UTSW 17 36,225,215 (GRCm39) splice site probably benign
R7376:Mrps18b UTSW 17 36,221,587 (GRCm39) missense probably benign
R8370:Mrps18b UTSW 17 36,223,254 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- TAGGACTGTACAGGTTCAGGG -3'
(R):5'- CGCATGCATAAGTAAACTCATCTG -3'

Sequencing Primer
(F):5'- GATATGAAGACTGTGAGACACCTCTG -3'
(R):5'- GGTCTTGATTTCAGAATACCACAACC -3'
Posted On 2020-06-30