Incidental Mutation 'R7734:Rpl4'
ID 596059
Institutional Source Beutler Lab
Gene Symbol Rpl4
Ensembl Gene ENSMUSG00000032399
Gene Name ribosomal protein L4
Synonyms 2010004J23Rik
MMRRC Submission 045790-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R7734 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 64080657-64085948 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64084661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 245 (H245Q)
Ref Sequence ENSEMBL: ENSMUSP00000034966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034965] [ENSMUST00000034966] [ENSMUST00000122091] [ENSMUST00000130127] [ENSMUST00000176299] [ENSMUST00000176378] [ENSMUST00000176794] [ENSMUST00000177045]
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 probably benign
Transcript: ENSMUST00000034966
AA Change: H245Q

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034966
Gene: ENSMUSG00000032399
AA Change: H245Q

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 probably benign
Transcript: ENSMUST00000122091
SMART Domains Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
Pfam:DUF2352 38 589 6e-206 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124301
SMART Domains Protein: ENSMUSP00000134966
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
PDB:3IF8|A 3 74 3e-31 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000130127
SMART Domains Protein: ENSMUSP00000116187
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
Pfam:DUF2352 72 154 8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176299
SMART Domains Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
Pfam:DUF2352 1 471 2.9e-192 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176378
SMART Domains Protein: ENSMUSP00000134782
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
PDB:3IF8|A 3 74 1e-31 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000176794
SMART Domains Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
Pfam:DUF2352 38 257 8e-67 PFAM
Pfam:DUF2352 254 568 4.4e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177045
SMART Domains Protein: ENSMUSP00000135328
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
Pfam:DUF2352 19 303 2.2e-93 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa2 T C 9: 69,398,764 (GRCm39) Y333H probably benign Het
Arid1a A T 4: 133,408,679 (GRCm39) F1558I unknown Het
Aste1 A G 9: 105,274,678 (GRCm39) D306G probably damaging Het
Atp2a2 A G 5: 122,596,590 (GRCm39) V843A possibly damaging Het
Atrip T A 9: 108,894,574 (GRCm39) H451L probably benign Het
Cdc42bpb T C 12: 111,295,664 (GRCm39) D200G probably damaging Het
Ceacam19 A C 7: 19,620,520 (GRCm39) M37R probably benign Het
Cemip G A 7: 83,606,872 (GRCm39) R782* probably null Het
Cpe A T 8: 65,070,654 (GRCm39) I197N probably benign Het
Csmd2 C A 4: 128,445,850 (GRCm39) P3307T Het
Cyp4a12b C A 4: 115,268,937 (GRCm39) Q20K possibly damaging Het
Dcaf1 T C 9: 106,715,878 (GRCm39) Y332H probably damaging Het
Dclk3 A G 9: 111,298,163 (GRCm39) H569R probably damaging Het
Dcp1b A G 6: 119,192,244 (GRCm39) S387G probably benign Het
Ddx24 A G 12: 103,383,819 (GRCm39) M590T possibly damaging Het
Dixdc1 T G 9: 50,613,268 (GRCm39) Q229P probably damaging Het
Dnase1l3 T C 14: 7,977,144 (GRCm38) R181G probably benign Het
Dzip1l A T 9: 99,549,735 (GRCm39) D735V probably damaging Het
Edem3 T C 1: 151,694,336 (GRCm39) S890P probably benign Het
Fuom A G 7: 139,679,455 (GRCm39) L155P unknown Het
Gm6408 C A 5: 146,421,160 (GRCm39) S263* probably null Het
Helz C G 11: 107,576,248 (GRCm39) S1814R unknown Het
Hrc T C 7: 44,986,100 (GRCm39) L417P probably benign Het
Igdcc4 A C 9: 65,039,035 (GRCm39) H894P probably damaging Het
Lgr6 C A 1: 134,930,981 (GRCm39) V296L probably damaging Het
Map3k4 T A 17: 12,482,998 (GRCm39) Y573F probably damaging Het
Mest T C 6: 30,746,299 (GRCm39) Y296H unknown Het
Mettl21a C T 1: 64,647,288 (GRCm39) V90M probably damaging Het
Mfsd4b1 A T 10: 39,883,374 (GRCm39) N25K probably damaging Het
Mmd T A 11: 90,167,579 (GRCm39) F203I probably damaging Het
Myo15a G A 11: 60,401,108 (GRCm39) V3028M probably benign Het
Nlrp1a T A 11: 70,998,826 (GRCm39) N859I unknown Het
Nrcam T C 12: 44,584,034 (GRCm39) L36P possibly damaging Het
Nup107 C A 10: 117,593,917 (GRCm39) E759* probably null Het
Or14a259 A G 7: 86,013,476 (GRCm39) I23T not run Het
Pcdh7 T G 5: 57,876,976 (GRCm39) I177S probably damaging Het
Pde6a T C 18: 61,365,938 (GRCm39) I221T probably benign Het
Ptpn13 A T 5: 103,709,828 (GRCm39) N1497I probably damaging Het
Rmc1 T A 18: 12,322,320 (GRCm39) I591N possibly damaging Het
Rsf1 C CCACGGCGGG 7: 97,229,115 (GRCm39) probably benign Het
Scara5 A G 14: 65,968,600 (GRCm39) D291G possibly damaging Het
Septin14 T A 5: 129,760,583 (GRCm39) I422L probably benign Het
Serpina1e T C 12: 103,917,151 (GRCm39) K173E probably benign Het
Slc5a1 C T 5: 33,318,279 (GRCm39) T644I probably benign Het
Slc6a13 A T 6: 121,314,334 (GRCm39) T590S probably benign Het
Smarca4 C T 9: 21,578,658 (GRCm39) T938I possibly damaging Het
Stxbp1 A T 2: 32,691,832 (GRCm39) D453E probably benign Het
Tcf12 C A 9: 71,829,943 (GRCm39) V173L probably benign Het
Tenm3 A G 8: 49,099,368 (GRCm39) C146R probably damaging Het
Trim11 T C 11: 58,869,180 (GRCm39) C39R probably damaging Het
Trim37 A G 11: 87,068,821 (GRCm39) Y389C probably damaging Het
Ttll8 C T 15: 88,798,368 (GRCm39) G789D probably damaging Het
Tubb2a C T 13: 34,258,776 (GRCm39) S338N probably benign Het
Ulk2 G A 11: 61,744,127 (GRCm39) Q50* probably null Het
Urgcp T C 11: 5,666,406 (GRCm39) D687G probably benign Het
Usp13 C T 3: 32,892,054 (GRCm39) H78Y probably benign Het
Vmn2r100 T A 17: 19,742,296 (GRCm39) D223E probably benign Het
Vwc2 G A 11: 11,065,929 (GRCm39) A6T possibly damaging 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
IGL03084:Rpl4 APN 9 64,085,599 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GGAAGTTCTGAGTCCTACGTGAG -3'
(R):5'- GGTGAGGCACATCCAAACAATG -3'

Sequencing Primer
(F):5'- ACGTGAGTGAGCTACGCCAG -3'
(R):5'- ACGCAAACAAAATGTGAATGC -3'
Posted On 2019-11-12