Incidental Mutation 'IGL02701:Rpl14'
ID 304153
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl14
Ensembl Gene ENSMUSG00000025794
Gene Name ribosomal protein L14
Synonyms 3100001N19Rik, CTG-B33, CAG-ISL-7, L14
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock # IGL02701
Quality Score
Status
Chromosome 9
Chromosomal Location 120571444-120574654 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 120573573 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000165532]
AlphaFold Q9CR57
Predicted Effect noncoding transcript
Transcript: ENSMUST00000064646
Predicted Effect probably benign
Transcript: ENSMUST00000165532
SMART Domains Protein: ENSMUSP00000131489
Gene: ENSMUSG00000025794

DomainStartEndE-ValueType
Blast:KOW 6 33 1e-7 BLAST
Pfam:Ribosomal_L14e 46 120 3.8e-35 PFAM
low complexity region 137 217 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216628
Predicted Effect probably benign
Transcript: ENSMUST00000216990
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 L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5'-terminal exons exist but all encode the same protein. 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik A G 5: 5,466,623 probably null Het
4833423E24Rik A G 2: 85,484,169 L480P probably damaging Het
Arhgap21 A G 2: 20,892,091 C125R probably damaging Het
Blmh A G 11: 76,971,910 D383G probably benign Het
Brca1 T C 11: 101,525,235 E691G probably damaging Het
Chrm3 G A 13: 9,878,464 R179* probably null Het
Cnrip1 A G 11: 17,078,415 T116A probably benign Het
Csmd2 T C 4: 128,496,141 V2223A probably benign Het
Dalrd3 T A 9: 108,572,284 V143D possibly damaging Het
Ddx60 A T 8: 61,979,341 I886L probably damaging Het
Dennd4a T C 9: 64,897,353 F1325L possibly damaging Het
Dnmt3l A T 10: 78,055,022 T253S probably benign Het
Gde1 T A 7: 118,698,637 T9S probably damaging Het
Ggcx T A 6: 72,418,472 probably benign Het
Gm813 G A 16: 58,615,807 S51L probably benign Het
Hspg2 C T 4: 137,557,174 A3481V probably damaging Het
Igf1r T C 7: 68,201,249 Y931H possibly damaging Het
Ighv12-3 A C 12: 114,366,801 S25A probably damaging Het
Itga5 A C 15: 103,347,766 C920G probably damaging Het
Kmt5b A G 19: 3,796,681 D118G probably benign Het
Lrp1b T G 2: 41,246,017 N1647T possibly damaging Het
Lrrc71 T C 3: 87,741,772 E363G probably benign Het
Mapk1 A G 16: 17,015,906 Y41C probably benign Het
Mib1 T C 18: 10,747,357 V178A probably damaging Het
Olfr1022 A G 2: 85,869,458 I289V probably benign Het
Olfr159 A G 4: 43,770,366 I215T probably benign Het
Olfr472 A T 7: 107,903,442 T242S probably benign Het
Plb1 T C 5: 32,364,197 V1464A unknown Het
Plekhg5 T C 4: 152,103,022 S82P probably damaging Het
Plxna4 T C 6: 32,517,559 T41A probably benign Het
Ppip5k1 A C 2: 121,316,649 probably null Het
Slc44a2 T C 9: 21,347,951 F554L probably benign Het
Slco1b2 T A 6: 141,685,545 V635E probably benign Het
Sv2a T A 3: 96,187,131 C261S probably damaging Het
Thbs2 T C 17: 14,683,361 I353V probably benign Het
Tspan4 G A 7: 141,492,028 V205M probably damaging Het
Vezf1 A T 11: 88,076,221 R93* probably null Het
Wwox T A 8: 114,706,368 V258D probably damaging Het
Zmynd12 G T 4: 119,444,755 probably benign Het
Other mutations in Rpl14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03061:Rpl14 APN 9 120572127 missense probably damaging 0.98
R0040:Rpl14 UTSW 9 120572101 missense possibly damaging 0.77
R0040:Rpl14 UTSW 9 120572101 missense possibly damaging 0.77
R0494:Rpl14 UTSW 9 120574362 utr 3 prime probably benign
R1984:Rpl14 UTSW 9 120572187 missense possibly damaging 0.81
R5169:Rpl14 UTSW 9 120572188 missense possibly damaging 0.66
R5895:Rpl14 UTSW 9 120574174 utr 3 prime probably benign
R6970:Rpl14 UTSW 9 120574227 utr 3 prime probably benign
R7311:Rpl14 UTSW 9 120574105 missense probably damaging 0.96
Posted On 2015-04-16