Incidental Mutation 'IGL01963:Rps20'
ID182479
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps20
Ensembl Gene ENSMUSG00000028234
Gene Nameribosomal protein S20
Synonyms4632426K06Rik, Dsk4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01963
Quality Score
Status
Chromosome4
Chromosomal Location3831334-3835665 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to C at 3834494 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000138502]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000103009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130128
Predicted Effect probably benign
Transcript: ENSMUST00000138502
SMART Domains Protein: ENSMUSP00000120528
Gene: ENSMUSG00000028234

DomainStartEndE-ValueType
Pfam:Ribosomal_S10 21 115 1.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157726
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: 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. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Dec 2015]
PHENOTYPE: Heterozygous mutant animals exhibit pigmentation defects affecting the footpads. Homozygous mutant animals are embryonic lethal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik G A 14: 4,350,856 G130D probably damaging Het
Abca8b T A 11: 109,971,763 D392V probably damaging Het
Clptm1l T A 13: 73,617,569 probably benign Het
Creb3l1 G A 2: 91,993,333 T178I probably benign Het
Ctsd A G 7: 142,376,599 probably null Het
Dcstamp A T 15: 39,760,359 I401F possibly damaging Het
Dnah5 A G 15: 28,370,536 D2874G probably benign Het
Fgfr1op A T 17: 8,192,277 D354V probably damaging Het
Fli1 T A 9: 32,424,207 K310* probably null Het
Fndc4 C T 5: 31,295,212 probably null Het
Fuk A G 8: 110,893,402 F281S probably damaging Het
Gc G A 5: 89,422,122 probably benign Het
Krtap26-1 A G 16: 88,647,668 C22R probably damaging Het
Obscn C T 11: 59,020,541 G6422S probably benign Het
Olfr1444 T A 19: 12,862,382 F202L probably benign Het
Olfr418 T A 1: 173,270,352 M59K probably damaging Het
Olfr975 C A 9: 39,950,240 C177F probably damaging Het
Pgr C T 9: 8,922,668 P613L probably damaging Het
Pnpla8 C A 12: 44,296,033 A524E possibly damaging Het
Psma2 A T 13: 14,619,363 I105F probably damaging Het
Ptprg A G 14: 12,220,661 R458G probably damaging Het
Rbm44 A G 1: 91,163,108 I755V probably benign Het
Rev3l A G 10: 39,822,737 K1077E possibly damaging Het
Sel1l3 A C 5: 53,200,338 V104G probably damaging Het
Sirpb1c T C 3: 15,838,773 N89S probably benign Het
Slc25a16 G A 10: 62,930,441 probably null Het
Sulf1 C T 1: 12,818,507 R339C probably damaging Het
Tedc2 C T 17: 24,217,952 A270T probably benign Het
Trem3 T C 17: 48,247,852 S2P possibly damaging Het
Vps37a G T 8: 40,540,730 Q255H probably damaging Het
Zfp352 C T 4: 90,224,154 A177V possibly damaging Het
Other mutations in Rps20
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3834:Rps20 UTSW 4 3834610 missense probably damaging 1.00
Posted On2014-05-07