Incidental Mutation 'R5269:Rpl18a'
ID 400073
Institutional Source Beutler Lab
Gene Symbol Rpl18a
Ensembl Gene ENSMUSG00000045128
Gene Name ribosomal protein L18A
Synonyms 2510019J09Rik
MMRRC Submission 042834-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R5269 (G1)
Quality Score 143
Status Validated
Chromosome 8
Chromosomal Location 71347366-71350056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71348932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 15 (R15C)
Ref Sequence ENSEMBL: ENSMUSP00000148671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000809] [ENSMUST00000054220] [ENSMUST00000212129] [ENSMUST00000212796] [ENSMUST00000212494] [ENSMUST00000213053] [ENSMUST00000212378] [ENSMUST00000212709]
AlphaFold P62717
Predicted Effect probably benign
Transcript: ENSMUST00000000809
SMART Domains Protein: ENSMUSP00000000809
Gene: ENSMUSG00000000792

DomainStartEndE-ValueType
Pfam:SSF 47 452 2.5e-43 PFAM
transmembrane domain 522 544 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054220
AA Change: R15C

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058368
Gene: ENSMUSG00000045128
AA Change: R15C

DomainStartEndE-ValueType
Pfam:Ribosomal_L18ae 7 130 1.4e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212019
Predicted Effect probably benign
Transcript: ENSMUST00000212129
AA Change: R15C

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212796
AA Change: R15C

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000212494
AA Change: R15C

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect silent
Transcript: ENSMUST00000213053
Predicted Effect probably benign
Transcript: ENSMUST00000212378
Predicted Effect probably benign
Transcript: ENSMUST00000212709
Meta Mutation Damage Score 0.6056 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18AE family of ribosomal proteins that is a component of the 60S subunit. The encoded protein may play a role in viral replication by interacting with the hepatitis C virus internal ribosome entry site (IRES). This gene is co-transcribed with the U68 snoRNA, located within the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,595,717 (GRCm39) S357P possibly damaging Het
Adam39 A G 8: 41,279,018 (GRCm39) I470V probably benign Het
Agrn A T 4: 156,253,447 (GRCm39) C1708S probably benign Het
Agtpbp1 A G 13: 59,621,557 (GRCm39) I42T probably damaging Het
Akap6 T C 12: 53,186,626 (GRCm39) C1347R probably damaging Het
Antxr1 A G 6: 87,157,165 (GRCm39) L452P probably damaging Het
Arhgef33 T A 17: 80,677,704 (GRCm39) V417D probably damaging Het
Brca2 A G 5: 150,462,688 (GRCm39) I817M possibly damaging Het
Casp4 A T 9: 5,321,521 (GRCm39) probably benign Het
Cdh20 T C 1: 104,861,882 (GRCm39) Y21H possibly damaging Het
Cdr2 C T 7: 120,557,557 (GRCm39) V323M possibly damaging Het
Cebpa G A 7: 34,819,283 (GRCm39) R147H probably benign Het
Cetn4 C A 3: 37,364,118 (GRCm39) E31* probably null Het
Cobll1 G A 2: 64,964,115 (GRCm39) Q189* probably null Het
Colec12 A G 18: 9,846,825 (GRCm39) T74A possibly damaging Het
Crisp4 A G 1: 18,198,934 (GRCm39) S124P probably damaging Het
Eddm3b T A 14: 51,354,178 (GRCm39) D55E probably damaging Het
Elmo1 C A 13: 20,633,656 (GRCm39) N439K probably benign Het
Fabp12 T C 3: 10,315,167 (GRCm39) N60S probably benign Het
Fat2 T A 11: 55,178,704 (GRCm39) H1452L probably benign Het
Flacc1 A G 1: 58,730,919 (GRCm39) S46P possibly damaging Het
Flrt2 T C 12: 95,746,712 (GRCm39) V350A possibly damaging Het
Ganab T C 19: 8,889,301 (GRCm39) F626S probably damaging Het
Ghr T C 15: 3,349,561 (GRCm39) Y539C probably benign Het
Gm6871 T C 7: 41,197,525 (GRCm39) T112A probably damaging Het
Gm7133 T A 1: 97,110,848 (GRCm39) noncoding transcript Het
Gon4l A C 3: 88,802,835 (GRCm39) I1149L probably benign Het
Greb1l G A 18: 10,511,409 (GRCm39) D45N probably benign Het
H2-K2 A G 17: 34,215,989 (GRCm39) probably benign Het
Herc2 C T 7: 55,818,618 (GRCm39) R2770* probably null Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Itsn2 A G 12: 4,683,553 (GRCm39) probably benign Het
Klb A G 5: 65,506,140 (GRCm39) D129G probably damaging Het
Klf1 A G 8: 85,629,969 (GRCm39) I265V probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Map3k10 T C 7: 27,357,957 (GRCm39) E607G probably benign Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Mroh6 A G 15: 75,757,639 (GRCm39) L457P probably damaging Het
Mrpl21 T A 19: 3,337,012 (GRCm39) C128S probably damaging Het
Or51f23 T C 7: 102,453,327 (GRCm39) V214A probably benign Het
Paqr4 G T 17: 23,957,187 (GRCm39) H105Q probably damaging Het
Pcdhga10 A G 18: 37,881,747 (GRCm39) I503V probably benign Het
Pds5a T C 5: 65,821,271 (GRCm39) N151S probably damaging Het
Pif1 A G 9: 65,499,111 (GRCm39) T444A possibly damaging Het
Ppp2r3d T C 9: 101,031,064 (GRCm39) R851G probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Ros1 T G 10: 51,927,104 (GRCm39) Q2172P probably damaging Het
Rpe65 A G 3: 159,309,984 (GRCm39) T86A probably benign Het
Sh3tc2 A G 18: 62,108,684 (GRCm39) K258R probably benign Het
Ska3 T A 14: 58,059,573 (GRCm39) E84V possibly damaging Het
Slc25a40 T A 5: 8,497,409 (GRCm39) probably null Het
Slf1 A T 13: 77,252,700 (GRCm39) S274T probably benign Het
Spata21 A T 4: 140,830,332 (GRCm39) Q267H probably damaging Het
Strbp A T 2: 37,517,455 (GRCm39) W207R possibly damaging Het
Taf6l T C 19: 8,752,326 (GRCm39) E454G probably damaging Het
Tcam1 C A 11: 106,176,353 (GRCm39) L360I probably benign Het
Tnxb G A 17: 34,922,582 (GRCm39) R2465H possibly damaging Het
Trim66 T A 7: 109,056,797 (GRCm39) Y1120F probably benign Het
Trp53 T A 11: 69,480,031 (GRCm39) M243K probably damaging Het
Ttl T A 2: 128,910,831 (GRCm39) C72S probably damaging Het
Ttn A G 2: 76,539,240 (GRCm39) V34582A probably benign Het
Uqcrh T C 4: 115,927,101 (GRCm39) T31A possibly damaging Het
Usp40 A G 1: 87,923,504 (GRCm39) C256R probably benign Het
Vmn1r168 A G 7: 23,240,839 (GRCm39) E232G probably benign Het
Wdr72 A T 9: 74,064,653 (GRCm39) I562F probably damaging Het
Wnt4 A G 4: 137,005,061 (GRCm39) N24S probably benign Het
Other mutations in Rpl18a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01390:Rpl18a APN 8 71,348,154 (GRCm39) splice site probably benign
R1105:Rpl18a UTSW 8 71,348,658 (GRCm39) missense probably damaging 1.00
R2351:Rpl18a UTSW 8 71,348,864 (GRCm39) missense probably benign 0.21
R4763:Rpl18a UTSW 8 71,348,330 (GRCm39) missense probably benign 0.45
R6825:Rpl18a UTSW 8 71,348,836 (GRCm39) missense probably damaging 0.98
R7342:Rpl18a UTSW 8 71,348,042 (GRCm39) missense unknown
R7490:Rpl18a UTSW 8 71,348,150 (GRCm39) missense probably benign 0.01
R8147:Rpl18a UTSW 8 71,348,069 (GRCm39) missense probably damaging 0.99
R8435:Rpl18a UTSW 8 71,348,341 (GRCm39) missense possibly damaging 0.52
R9104:Rpl18a UTSW 8 71,348,788 (GRCm39) missense probably benign 0.10
R9262:Rpl18a UTSW 8 71,348,179 (GRCm39) missense probably benign 0.31
Z1177:Rpl18a UTSW 8 71,348,952 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCAAACACCTGTGGGGAGTAGG -3'
(R):5'- CACAAGCCTTCTGACTTGCC -3'

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