Incidental Mutation 'IGL03279:Rpl3'
ID415517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl3
Ensembl Gene ENSMUSG00000060036
Gene Nameribosomal protein L3
SynonymsJ1, F2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.948) question?
Stock #IGL03279
Quality Score
Status
Chromosome15
Chromosomal Location80077791-80091868 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 80078359 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 340 (T340I)
Ref Sequence ENSEMBL: ENSMUSP00000080354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081650] [ENSMUST00000185306] [ENSMUST00000187832]
Predicted Effect probably benign
Transcript: ENSMUST00000081650
AA Change: T340I

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000080354
Gene: ENSMUSG00000060036
AA Change: T340I

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 1 375 1.7e-194 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157594
Predicted Effect probably benign
Transcript: ENSMUST00000185306
SMART Domains Protein: ENSMUSP00000140228
Gene: ENSMUSG00000060036

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 71 188 6.1e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187578
Predicted Effect probably benign
Transcript: ENSMUST00000187832
SMART Domains Protein: ENSMUSP00000139467
Gene: ENSMUSG00000060036

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 50 157 2e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199549
Predicted Effect probably benign
Transcript: ENSMUST00000230985
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 complexes 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 ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T A 11: 120,013,678 D224V probably damaging Het
Abca4 C A 3: 122,141,732 N1526K probably benign Het
Aif1 T A 17: 35,171,547 K76* probably null Het
Arap2 A G 5: 62,621,910 S1446P probably damaging Het
Cyb5rl A T 4: 107,084,128 E250V possibly damaging Het
Dock3 T C 9: 106,911,248 probably benign Het
Dppa2 A G 16: 48,311,665 T42A possibly damaging Het
Drosha C T 15: 12,859,392 P562L probably benign Het
Egfl7 C A 2: 26,590,707 H126N probably benign Het
Gm5852 T C 3: 93,727,277 noncoding transcript Het
Gpr161 T C 1: 165,310,529 F228S probably damaging Het
Grid1 T A 14: 34,945,765 M83K probably damaging Het
Gsdma2 T C 11: 98,657,723 S434P unknown Het
Hao2 T A 3: 98,880,396 N239I possibly damaging Het
Hsd17b14 A T 7: 45,566,193 I206F possibly damaging Het
Kansl1l A T 1: 66,735,666 V667E probably damaging Het
Kdm3a T C 6: 71,611,675 D450G probably benign Het
Lmo7 C A 14: 101,900,508 A882E probably benign Het
P4ha3 A G 7: 100,300,686 Y254C probably damaging Het
Pcdh15 A G 10: 74,317,072 Y408C probably damaging Het
Pglyrp3 T C 3: 92,026,527 Y160H probably damaging Het
Pnma5 G A X: 73,035,999 T359I probably benign Het
Ptbp3 A T 4: 59,476,937 H440Q possibly damaging Het
Rbx1 A G 15: 81,468,198 N41S probably damaging Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Sema6a A T 18: 47,300,090 C91* probably null Het
Slco6d1 T A 1: 98,466,680 V363E probably damaging Het
Stk38 A G 17: 28,984,205 probably benign Het
Tanc2 G A 11: 105,913,092 probably null Het
Thada A G 17: 84,435,560 F812S probably benign Het
Tubb4b-ps1 A G 5: 7,179,630 probably benign Het
Veph1 T C 3: 66,255,022 T72A probably damaging Het
Vps52 T A 17: 33,957,874 D67E probably damaging Het
Other mutations in Rpl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01790:Rpl3 APN 15 80079860 splice site probably benign
R1828:Rpl3 UTSW 15 80080390 missense possibly damaging 0.47
R6368:Rpl3 UTSW 15 80082544 missense probably damaging 1.00
R6469:Rpl3 UTSW 15 80083345 splice site probably null
R7657:Rpl3 UTSW 15 80081057 missense probably benign
Posted On2016-08-02