Incidental Mutation 'IGL03084:Rpl4'
ID 418015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl4
Ensembl Gene ENSMUSG00000032399
Gene Name ribosomal protein L4
Synonyms 2010004J23Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL03084
Quality Score
Status
Chromosome 9
Chromosomal Location 64080657-64085948 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 64085599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034965] [ENSMUST00000034966]
AlphaFold Q9D8E6
Predicted Effect probably benign
Transcript: ENSMUST00000034965
SMART Domains Protein: ENSMUSP00000034965
Gene: ENSMUSG00000032398

DomainStartEndE-ValueType
Pfam:SNAPc19 7 101 5.4e-27 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000034966
AA Change: K378R
SMART Domains Protein: ENSMUSP00000034966
Gene: ENSMUSG00000032399
AA Change: K378R

DomainStartEndE-ValueType
Pfam:Ribosomal_L4 22 263 9.7e-47 PFAM
Pfam:Ribos_L4_asso_C 275 349 4e-34 PFAM
low complexity region 352 367 N/A INTRINSIC
low complexity region 375 419 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217055
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 ribosomal protein that is a component of the 60S subunit. The protein belongs to the L4E family of ribosomal proteins. It is located in the cytoplasm. 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G T 8: 111,768,261 (GRCm39) V211L probably damaging Het
BC024139 T C 15: 76,004,007 (GRCm39) D753G probably benign Het
Brpf3 A G 17: 29,054,751 (GRCm39) M1098V probably damaging Het
Cachd1 T A 4: 100,860,285 (GRCm39) D1285E probably damaging Het
Cacna1b T C 2: 24,499,944 (GRCm39) T147A probably benign Het
Cdc14a A G 3: 116,142,101 (GRCm39) probably null Het
Cfhr4 T A 1: 139,708,880 (GRCm39) L9F possibly damaging Het
Chd1 A G 17: 15,990,560 (GRCm39) H1704R probably benign Het
Dmkn T G 7: 30,470,481 (GRCm39) N367K possibly damaging Het
Fam151b C A 13: 92,604,534 (GRCm39) D152Y probably damaging Het
Gabrg3 T C 7: 56,384,812 (GRCm39) S250G possibly damaging Het
Gm28042 A G 2: 119,870,986 (GRCm39) Q833R probably benign Het
Gnpat A C 8: 125,605,638 (GRCm39) Y336S probably damaging Het
Ighv1-54 G A 12: 115,157,736 (GRCm39) probably benign Het
Irag1 A G 7: 110,485,036 (GRCm39) probably benign Het
Kif2c T C 4: 117,035,355 (GRCm39) N31S possibly damaging Het
Larp1 T A 11: 57,947,921 (GRCm39) L939Q probably damaging Het
Lrrc69 G A 4: 14,708,631 (GRCm39) P238S probably damaging Het
Lypd10 T C 7: 24,413,605 (GRCm39) I207T possibly damaging Het
Lztfl1 C T 9: 123,538,641 (GRCm39) G152E probably damaging Het
Man2a2 T C 7: 80,002,691 (GRCm39) T1097A possibly damaging Het
Myh4 A G 11: 67,142,777 (GRCm39) probably null Het
Nab2 C T 10: 127,500,346 (GRCm39) V249M probably damaging Het
Nid2 A T 14: 19,819,000 (GRCm39) D498V probably benign Het
Nrap T C 19: 56,353,886 (GRCm39) T404A probably damaging Het
Or51i1 A G 7: 103,670,838 (GRCm39) V229A probably benign Het
Or5al7 A T 2: 85,992,569 (GRCm39) C241* probably null Het
Or5c1 T C 2: 37,222,413 (GRCm39) I218T probably damaging Het
Or8c9 T G 9: 38,241,513 (GRCm39) I210S probably damaging Het
Pard3 A G 8: 128,319,573 (GRCm39) I1104V probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ppfia3 A G 7: 44,989,651 (GRCm39) V1187A probably benign Het
Ppp1r16b G A 2: 158,603,413 (GRCm39) W346* probably null Het
Scn8a A T 15: 100,915,053 (GRCm39) I1206F probably damaging Het
Slc5a2 T C 7: 127,865,776 (GRCm39) S61P probably benign Het
Smarcal1 T C 1: 72,638,094 (GRCm39) probably null Het
Smyd4 A G 11: 75,281,433 (GRCm39) H302R probably benign Het
Sntb1 A G 15: 55,655,487 (GRCm39) I243T probably damaging Het
Stx8 C T 11: 67,911,782 (GRCm39) Q167* probably null Het
Sycp2 C A 2: 178,033,584 (GRCm39) probably benign Het
Ttn A T 2: 76,626,742 (GRCm39) V13088D probably damaging Het
Ugt2b1 T A 5: 87,074,243 (GRCm39) M39L probably benign Het
Utp6 A T 11: 79,853,042 (GRCm39) probably null Het
Vmn1r189 A T 13: 22,286,008 (GRCm39) Y276* probably null Het
Vmn2r11 T A 5: 109,207,209 (GRCm39) D37V probably benign Het
Vmn2r16 T G 5: 109,478,292 (GRCm39) F16V probably damaging Het
Vmn2r65 A T 7: 84,592,354 (GRCm39) M538K probably damaging Het
Zfp143 T A 7: 109,668,818 (GRCm39) probably benign Het
Other mutations in Rpl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Rpl4 APN 9 64,082,221 (GRCm39) missense probably damaging 1.00
IGL02142:Rpl4 APN 9 64,083,488 (GRCm39) missense possibly damaging 0.86
IGL02746:Rpl4 APN 9 64,082,932 (GRCm39) missense probably benign 0.00
IGL03332:Rpl4 APN 9 64,083,370 (GRCm39) unclassified probably benign
R2320:Rpl4 UTSW 9 64,082,881 (GRCm39) missense probably damaging 1.00
R4990:Rpl4 UTSW 9 64,082,167 (GRCm39) missense probably benign 0.15
R6880:Rpl4 UTSW 9 64,084,335 (GRCm39) missense probably damaging 1.00
R7734:Rpl4 UTSW 9 64,084,661 (GRCm39) missense probably benign 0.29
R7985:Rpl4 UTSW 9 64,085,212 (GRCm39) missense probably damaging 1.00
R8754:Rpl4 UTSW 9 64,082,242 (GRCm39) missense probably damaging 1.00
R8941:Rpl4 UTSW 9 64,082,245 (GRCm39) missense probably benign
Posted On 2016-08-02