Incidental Mutation 'R1506:Rps14'
ID 167964
Institutional Source Beutler Lab
Gene Symbol Rps14
Ensembl Gene ENSMUSG00000024608
Gene Name ribosomal protein S14
Synonyms 2600014J02Rik
MMRRC Submission 039554-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R1506 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 60907668-60911618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60909551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 26 (N26I)
Ref Sequence ENSEMBL: ENSMUSP00000113504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025511] [ENSMUST00000118551] [ENSMUST00000122279] [ENSMUST00000127568] [ENSMUST00000137400]
AlphaFold P62264
Predicted Effect probably benign
Transcript: ENSMUST00000025511
AA Change: N26I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025511
Gene: ENSMUSG00000024608
AA Change: N26I

DomainStartEndE-ValueType
Pfam:Ribosomal_S11 29 147 3.2e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118088
Predicted Effect probably benign
Transcript: ENSMUST00000118551
AA Change: N26I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113081
Gene: ENSMUSG00000024608
AA Change: N26I

DomainStartEndE-ValueType
Pfam:Ribosomal_S11 29 147 8.7e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122279
AA Change: N26I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113504
Gene: ENSMUSG00000024608
AA Change: N26I

DomainStartEndE-ValueType
Pfam:Ribosomal_S11 29 147 8.7e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127568
AA Change: N26I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114478
Gene: ENSMUSG00000024608
AA Change: N26I

DomainStartEndE-ValueType
Pfam:Ribosomal_S11 29 119 4.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137400
AA Change: N26I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122985
Gene: ENSMUSG00000024608
AA Change: N26I

DomainStartEndE-ValueType
Pfam:Ribosomal_S11 29 138 8.2e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142980
Meta Mutation Damage Score 0.0746 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency 98% (61/62)
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 40S subunit. The protein belongs to the S11P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. In Chinese hamster ovary cells, mutations in this gene can lead to resistance to emetine, a protein synthesis inhibitor. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Conditional heterozygous knockout in hematopoietic cells leads to reduced protein synthesis, resulting in progressive anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 G T 11: 94,248,144 (GRCm39) T1152K possibly damaging Het
Acp3 T A 9: 104,201,373 (GRCm39) T82S probably damaging Het
Adam23 C T 1: 63,586,973 (GRCm39) P445S probably benign Het
Ap3b1 T A 13: 94,582,651 (GRCm39) probably benign Het
Artn A G 4: 117,784,058 (GRCm39) V136A probably damaging Het
Ash1l A G 3: 88,965,806 (GRCm39) T2403A probably damaging Het
Bbof1 G T 12: 84,470,273 (GRCm39) V120L probably damaging Het
Boc A G 16: 44,323,928 (GRCm39) Y158H probably damaging Het
Casp8 A G 1: 58,863,355 (GRCm39) E105G probably damaging Het
Cers4 T C 8: 4,570,557 (GRCm39) F206L probably benign Het
Chrna9 A G 5: 66,126,479 (GRCm39) T78A probably benign Het
Creb3 A T 4: 43,566,193 (GRCm39) T263S possibly damaging Het
Cyp2c40 A G 19: 39,766,443 (GRCm39) V384A probably damaging Het
Dip2b G A 15: 100,080,994 (GRCm39) V879M probably damaging Het
Dnah17 C A 11: 118,016,213 (GRCm39) V14F possibly damaging Het
Epb41l4b T A 4: 57,088,824 (GRCm39) K144N probably damaging Het
Ercc6 A T 14: 32,291,821 (GRCm39) I1062F probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fat2 C A 11: 55,175,090 (GRCm39) E1874D probably benign Het
Fbxw21 T A 9: 108,977,257 (GRCm39) I151F probably damaging Het
Fhip2a A G 19: 57,357,007 (GRCm39) I33V probably benign Het
Foxn1 A G 11: 78,256,761 (GRCm39) probably benign Het
Gpr63 G A 4: 25,008,227 (GRCm39) R317H probably damaging Het
Grip1 C A 10: 119,814,356 (GRCm39) H296N probably damaging Het
Gtdc1 A T 2: 44,465,506 (GRCm39) M288K possibly damaging Het
Guf1 T A 5: 69,724,509 (GRCm39) D488E possibly damaging Het
Gvin3 C T 7: 106,200,788 (GRCm39) D819N probably benign Het
Heatr5b C A 17: 79,060,576 (GRCm39) R2033L probably damaging Het
Hsd17b2 T A 8: 118,429,004 (GRCm39) probably null Het
Ino80 A T 2: 119,255,746 (GRCm39) L913* probably null Het
Inppl1 A C 7: 101,473,174 (GRCm39) S1159A probably benign Het
Kcnk7 G A 19: 5,756,140 (GRCm39) C122Y probably damaging Het
Mtor A G 4: 148,620,962 (GRCm39) probably benign Het
Muc4 A T 16: 32,574,033 (GRCm39) S704C possibly damaging Het
Nckap5 A T 1: 125,953,650 (GRCm39) C967* probably null Het
Nek10 T C 14: 14,999,078 (GRCm38) probably benign Het
Oas1h A T 5: 121,009,951 (GRCm39) D342V possibly damaging Het
Or10j2 A G 1: 173,098,336 (GRCm39) N198S probably benign Het
Or2ak7 T A 11: 58,575,014 (GRCm39) L105Q probably benign Het
Or2n1 A T 17: 38,486,091 (GRCm39) M39L probably benign Het
Or4m1 A G 14: 50,557,941 (GRCm39) V117A probably benign Het
Or8b1b T C 9: 38,375,439 (GRCm39) M34T probably benign Het
Prex1 A T 2: 166,429,001 (GRCm39) V694E probably damaging Het
Rad50 G A 11: 53,570,312 (GRCm39) A810V probably damaging Het
Rcor1 T C 12: 111,076,271 (GRCm39) S410P probably damaging Het
Slc38a1 T C 15: 96,483,431 (GRCm39) D299G probably benign Het
Slc5a1 T A 5: 33,312,052 (GRCm39) N481K possibly damaging Het
Slco3a1 A T 7: 74,009,683 (GRCm39) probably null Het
Spart T C 3: 55,024,992 (GRCm39) S196P probably damaging Het
Speg A G 1: 75,394,307 (GRCm39) T1701A probably benign Het
Sugt1 A G 14: 79,862,365 (GRCm39) N271S probably benign Het
Tbx15 A T 3: 99,259,228 (GRCm39) L366F possibly damaging Het
Tnc G A 4: 63,925,921 (GRCm39) T953I possibly damaging Het
Uqcc1 A G 2: 155,753,738 (GRCm39) S46P probably damaging Het
Vmn2r18 T C 5: 151,499,099 (GRCm39) probably null Het
Vmn2r7 T A 3: 64,614,500 (GRCm39) Y438F probably benign Het
Vmn2r72 T A 7: 85,398,419 (GRCm39) K520N probably benign Het
Vps52 T C 17: 34,176,868 (GRCm39) L74P probably damaging Het
Xpo5 G T 17: 46,538,814 (GRCm39) M673I probably benign Het
Zscan18 A G 7: 12,508,129 (GRCm39) V457A probably damaging Het
Other mutations in Rps14
AlleleSourceChrCoordTypePredicted EffectPPH Score
Olive_oyl UTSW 18 60,910,033 (GRCm39) missense possibly damaging 0.60
R5704:Rps14 UTSW 18 60,910,205 (GRCm39) intron probably benign
R6294:Rps14 UTSW 18 60,910,033 (GRCm39) missense possibly damaging 0.60
Predicted Primers PCR Primer
(F):5'- GAGACCCGACTTCCATGCTGTTAC -3'
(R):5'- AACTCCTTTGAGTCAGCAAGCTCTG -3'

Sequencing Primer
(F):5'- ACATAGCAACTTGTGCATGTGG -3'
(R):5'- ccagcaagggggcagag -3'
Posted On 2014-04-13