Incidental Mutation 'IGL03332:Rpl4'
ID 416907
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 # IGL03332
Quality Score
Status
Chromosome 9
Chromosomal Location 64080657-64085948 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 64083370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034965] [ENSMUST00000034966] [ENSMUST00000176299] [ENSMUST00000176794] [ENSMUST00000177045] [ENSMUST00000176378] [ENSMUST00000122091] [ENSMUST00000130127]
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
SMART Domains Protein: ENSMUSP00000034966
Gene: ENSMUSG00000032399

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: ENSMUST00000151428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217055
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: 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
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: ENSMUST00000176378
SMART Domains Protein: ENSMUSP00000134782
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
PDB:3IF8|A 3 74 1e-31 PDB
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: ENSMUST00000130127
SMART Domains Protein: ENSMUSP00000116187
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
Pfam:DUF2352 72 154 8e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213760
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 C A 5: 103,988,971 (GRCm39) S846* probably null Het
Cnga2 A G X: 71,049,800 (GRCm39) Y155C probably damaging Het
Cngb1 A G 8: 96,025,474 (GRCm39) probably benign Het
Ece1 T C 4: 137,673,666 (GRCm39) Y405H probably damaging Het
Entpd5 T C 12: 84,429,002 (GRCm39) probably null Het
Itpr2 T C 6: 146,045,647 (GRCm39) E2573G probably damaging Het
Katnip T A 7: 125,419,277 (GRCm39) Y481* probably null Het
Mia2 T A 12: 59,155,184 (GRCm39) I300N probably damaging Het
Mtcl1 G A 17: 66,645,014 (GRCm39) P1478S probably damaging Het
Myo9b A G 8: 71,801,418 (GRCm39) E1192G possibly damaging Het
Nol6 C A 4: 41,120,735 (GRCm39) D405Y probably damaging Het
Rreb1 G T 13: 38,114,892 (GRCm39) E750D probably benign Het
Slc1a2 A G 2: 102,578,879 (GRCm39) M265V possibly damaging Het
Tnik C T 3: 28,720,304 (GRCm39) T1254I probably damaging Het
Unc80 G A 1: 66,542,790 (GRCm39) G348D probably damaging Het
Wdr19 A G 5: 65,384,486 (GRCm39) T527A possibly damaging Het
Zbtb21 T C 16: 97,753,533 (GRCm39) E250G possibly damaging Het
Zbtb8b G A 4: 129,322,361 (GRCm39) P367S probably 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
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