Incidental Mutation 'R1105:Rpl18a'
ID 98444
Institutional Source Beutler Lab
Gene Symbol Rpl18a
Ensembl Gene ENSMUSG00000045128
Gene Name ribosomal protein L18A
Synonyms 2510019J09Rik
MMRRC Submission 039178-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R1105 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 71347366-71350056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71348658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 77 (N77S)
Ref Sequence ENSEMBL: ENSMUSP00000148665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000809] [ENSMUST00000054220] [ENSMUST00000212129] [ENSMUST00000212378] [ENSMUST00000212494] [ENSMUST00000212796] [ENSMUST00000212709] [ENSMUST00000213053]
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 damaging
Transcript: ENSMUST00000054220
AA Change: N77S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058368
Gene: ENSMUSG00000045128
AA Change: N77S

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
Predicted Effect probably damaging
Transcript: ENSMUST00000212378
AA Change: N33S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000212494
AA Change: N77S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212796
AA Change: N77S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212709
AA Change: N48S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000213053
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Bcl6 G T 16: 23,784,905 (GRCm39) D698E probably benign Het
Catsperz A T 19: 6,902,303 (GRCm39) Y64N probably benign Het
Clstn2 T C 9: 97,465,552 (GRCm39) probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Duox1 A T 2: 122,168,183 (GRCm39) T1103S probably damaging Het
Gcfc2 T C 6: 81,916,434 (GRCm39) S292P probably damaging Het
Hs3st1 GGTACAGGCTGCGGTTGAGAGCCTTGTA GGTA 5: 39,772,041 (GRCm39) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Klk1b16 C T 7: 43,788,937 (GRCm39) R57C probably damaging Het
Mki67 T C 7: 135,302,779 (GRCm39) S752G probably benign Het
Ndrg1 T A 15: 66,812,080 (GRCm39) N204Y probably damaging Het
Ripk1 T C 13: 34,212,150 (GRCm39) Y487H probably benign Het
Zik1 G A 7: 10,224,312 (GRCm39) R262C probably damaging Het
Other mutations in Rpl18a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01390:Rpl18a APN 8 71,348,154 (GRCm39) splice site probably benign
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
R5269:Rpl18a UTSW 8 71,348,932 (GRCm39) missense possibly damaging 0.85
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'- TTAAACAGCCGCTACAGGCAGC -3'
(R):5'- GTATGCGAATCTTTGCACCCAACC -3'

Sequencing Primer
(F):5'- TACAGGCAGCGACAGTTC -3'
(R):5'- CTGGTACTTTGTGTCACAGC -3'
Posted On 2014-01-05