Incidental Mutation 'IGL01390:Rpl18a'
ID 79187
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl18a
Ensembl Gene ENSMUSG00000045128
Gene Name ribosomal protein L18A
Synonyms 2510019J09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL01390
Quality Score
Status
Chromosome 8
Chromosomal Location 71347366-71350056 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 71348154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000809] [ENSMUST00000054220] [ENSMUST00000212129] [ENSMUST00000212378] [ENSMUST00000212796] [ENSMUST00000212494] [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 benign
Transcript: ENSMUST00000054220
SMART Domains Protein: ENSMUSP00000058368
Gene: ENSMUSG00000045128

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 benign
Transcript: ENSMUST00000212378
Predicted Effect unknown
Transcript: ENSMUST00000212796
AA Change: H176Q
Predicted Effect probably benign
Transcript: ENSMUST00000212494
Predicted Effect probably benign
Transcript: ENSMUST00000212709
Predicted Effect probably benign
Transcript: ENSMUST00000213053
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v0a1 A G 11: 100,934,628 (GRCm39) K565R probably benign Het
Cacna2d3 T C 14: 28,665,548 (GRCm39) T158A possibly damaging Het
Dnah5 A G 15: 28,411,686 (GRCm39) D3685G probably benign Het
Dock1 T C 7: 134,346,776 (GRCm39) I236T possibly damaging Het
Dock6 A G 9: 21,714,341 (GRCm39) V1803A probably damaging Het
Epb41 T C 4: 131,731,048 (GRCm39) I178V probably benign Het
Gm10110 C A 14: 90,135,677 (GRCm39) noncoding transcript Het
H2ac6 T C 13: 23,867,499 (GRCm39) probably benign Het
Hoxb7 A C 11: 96,177,837 (GRCm39) N95T probably benign Het
Ikzf2 C A 1: 69,609,801 (GRCm39) C116F probably damaging Het
Ints8 A T 4: 11,218,679 (GRCm39) probably benign Het
Itprid1 C T 6: 55,874,983 (GRCm39) P311L probably benign Het
Man2a1 T C 17: 65,017,700 (GRCm39) Y649H probably benign Het
Mcm8 T C 2: 132,679,998 (GRCm39) probably benign Het
Msi1 T A 5: 115,576,780 (GRCm39) D137E possibly damaging Het
Or8u10 T C 2: 85,915,984 (GRCm39) I46V probably benign Het
Pde6c A G 19: 38,150,376 (GRCm39) Y507C probably benign Het
Prl7d1 A G 13: 27,894,149 (GRCm39) V140A possibly damaging Het
Rb1 T A 14: 73,532,439 (GRCm39) I132F probably benign Het
Rgl1 A G 1: 152,447,339 (GRCm39) probably benign Het
Sf3b1 T C 1: 55,026,588 (GRCm39) I1274V probably benign Het
Slc9a3 A C 13: 74,298,880 (GRCm39) I100L probably benign Het
Sorcs3 T A 19: 48,778,570 (GRCm39) Y996N probably damaging Het
Sra1 A G 18: 36,803,134 (GRCm39) L37P probably damaging Het
Stim1 A G 7: 102,076,369 (GRCm39) Q440R possibly damaging Het
Tacc3 C T 5: 33,825,405 (GRCm39) probably benign Het
Tas2r104 T A 6: 131,662,448 (GRCm39) Y87F probably benign Het
Tbl2 T C 5: 135,185,217 (GRCm39) probably benign Het
Vsig10l C T 7: 43,115,889 (GRCm39) S410F probably damaging Het
Other mutations in Rpl18a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-05