Incidental Mutation 'IGL03061:Rpl14'
ID 409427
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl14
Ensembl Gene ENSMUSG00000025794
Gene Name ribosomal protein L14
Synonyms CTG-B33, L14, 3100001N19Rik, CAG-ISL-7
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # IGL03061
Quality Score
Status
Chromosome 9
Chromosomal Location 120400579-120403724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120401193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 12 (V12A)
Ref Sequence ENSEMBL: ENSMUSP00000131489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047687] [ENSMUST00000165532]
AlphaFold Q9CR57
Predicted Effect probably benign
Transcript: ENSMUST00000047687
SMART Domains Protein: ENSMUSP00000036830
Gene: ENSMUSG00000041608

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:GDA1_CD39 49 483 4.3e-102 PFAM
transmembrane domain 486 508 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165532
AA Change: V12A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131489
Gene: ENSMUSG00000025794
AA Change: V12A

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: ENSMUST00000215063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216628
Predicted Effect unknown
Transcript: ENSMUST00000216990
AA Change: V11A
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,961,374 (GRCm39) N106K probably damaging Het
Ak8 T C 2: 28,632,767 (GRCm39) probably benign Het
BC016579 C T 16: 45,449,849 (GRCm39) G190S probably damaging Het
C4bp A G 1: 130,564,454 (GRCm39) V410A probably damaging Het
Cacna2d3 T C 14: 28,780,388 (GRCm39) T658A probably damaging Het
Cadps2 T C 6: 23,287,659 (GRCm39) probably null Het
Car10 G T 11: 93,381,351 (GRCm39) V105F probably damaging Het
Car15 C T 16: 17,653,249 (GRCm39) C306Y possibly damaging Het
Casr C T 16: 36,316,250 (GRCm39) A530T probably benign Het
Col5a3 A G 9: 20,708,868 (GRCm39) probably null Het
Creld1 A G 6: 113,465,058 (GRCm39) E95G probably damaging Het
Dcstamp T A 15: 39,623,793 (GRCm39) D366E possibly damaging Het
Dnah11 T C 12: 117,866,856 (GRCm39) Y4095C probably damaging Het
Eps8l2 A G 7: 140,937,148 (GRCm39) probably benign Het
Gsn T C 2: 35,172,471 (GRCm39) probably benign Het
Ifi27l2a T C 12: 103,401,803 (GRCm39) V30A possibly damaging Het
Ifit1bl2 C T 19: 34,597,124 (GRCm39) R164Q probably benign Het
Impg2 T C 16: 56,088,779 (GRCm39) S1102P probably damaging Het
Kif24 G T 4: 41,394,323 (GRCm39) P984Q possibly damaging Het
Krtap29-1 T A 11: 99,869,455 (GRCm39) Q142L possibly damaging Het
Lpar6 C T 14: 73,476,510 (GRCm39) T157I probably benign Het
Lrrc32 A T 7: 98,148,629 (GRCm39) T470S probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mroh9 A T 1: 162,854,071 (GRCm39) H776Q probably damaging Het
Myh7 T C 14: 55,228,661 (GRCm39) probably benign Het
Myh7b A G 2: 155,462,031 (GRCm39) N309S possibly damaging Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Myo5b G A 18: 74,713,615 (GRCm39) probably benign Het
Npas4 C T 19: 5,036,365 (GRCm39) V600M probably damaging Het
Nrxn3 T A 12: 89,478,698 (GRCm39) Y557* probably null Het
Or2aj4 T C 16: 19,385,463 (GRCm39) T57A possibly damaging Het
Or52k2 A G 7: 102,253,946 (GRCm39) I128M probably damaging Het
Or8g53 T A 9: 39,683,458 (GRCm39) T213S probably benign Het
Pcdh15 A G 10: 74,152,843 (GRCm39) I383V probably damaging Het
Pdzrn3 C A 6: 101,128,816 (GRCm39) D617Y probably damaging Het
Prodh2 A T 7: 30,212,258 (GRCm39) K408* probably null Het
Ptprs T C 17: 56,725,830 (GRCm39) I1052V probably damaging Het
Sf3a1 C T 11: 4,125,493 (GRCm39) R428C probably damaging Het
Sgsm2 G T 11: 74,741,962 (GRCm39) N1009K probably damaging Het
Slc28a2 A T 2: 122,284,980 (GRCm39) I323F probably damaging Het
Snx19 T A 9: 30,344,928 (GRCm39) F676I probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tg A C 15: 66,543,254 (GRCm39) D56A probably damaging Het
Tln1 G T 4: 43,545,694 (GRCm39) A928E probably damaging Het
Tmem94 T C 11: 115,683,247 (GRCm39) S677P possibly damaging Het
Ttc41 C A 10: 86,572,721 (GRCm39) H698N possibly damaging Het
Vcan T C 13: 89,851,394 (GRCm39) T1189A probably benign Het
Vmn1r215 G T 13: 23,260,088 (GRCm39) V43F probably damaging Het
Vmn2r28 A T 7: 5,487,015 (GRCm39) N549K probably damaging Het
Zfp598 T C 17: 24,898,566 (GRCm39) V455A probably benign Het
Other mutations in Rpl14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02701:Rpl14 APN 9 120,402,639 (GRCm39) splice site probably benign
R0040:Rpl14 UTSW 9 120,401,167 (GRCm39) missense possibly damaging 0.77
R0040:Rpl14 UTSW 9 120,401,167 (GRCm39) missense possibly damaging 0.77
R0494:Rpl14 UTSW 9 120,403,428 (GRCm39) utr 3 prime probably benign
R1984:Rpl14 UTSW 9 120,401,253 (GRCm39) missense possibly damaging 0.81
R5169:Rpl14 UTSW 9 120,401,254 (GRCm39) missense possibly damaging 0.66
R5895:Rpl14 UTSW 9 120,403,240 (GRCm39) utr 3 prime probably benign
R6970:Rpl14 UTSW 9 120,403,293 (GRCm39) utr 3 prime probably benign
R7311:Rpl14 UTSW 9 120,403,171 (GRCm39) missense probably damaging 0.96
Posted On 2016-08-02