Incidental Mutation 'R2209:Rps19'
ID 239250
Institutional Source Beutler Lab
Gene Symbol Rps19
Ensembl Gene ENSMUSG00000040952
Gene Name ribosomal protein S19
Synonyms Dsk3
MMRRC Submission 040211-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2209 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 24584013-24589236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24584552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 34 (L34F)
Ref Sequence ENSEMBL: ENSMUSP00000116311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108428] [ENSMUST00000108429] [ENSMUST00000108430] [ENSMUST00000124035] [ENSMUST00000129847] [ENSMUST00000156372] [ENSMUST00000153451]
AlphaFold Q9CZX8
Predicted Effect probably benign
Transcript: ENSMUST00000108428
SMART Domains Protein: ENSMUSP00000104066
Gene: ENSMUSG00000040952

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 5 141 3.8e-61 PFAM
low complexity region 151 162 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108429
SMART Domains Protein: ENSMUSP00000104067
Gene: ENSMUSG00000040952

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 4 143 2.9e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108430
SMART Domains Protein: ENSMUSP00000104068
Gene: ENSMUSG00000040952

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 4 143 2.9e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124035
AA Change: L34F

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116311
Gene: ENSMUSG00000040952
AA Change: L34F

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 40 177 1.4e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129847
SMART Domains Protein: ENSMUSP00000138466
Gene: ENSMUSG00000040952

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 4 59 8.2e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138662
Predicted Effect probably benign
Transcript: ENSMUST00000156372
SMART Domains Protein: ENSMUSP00000120774
Gene: ENSMUSG00000040952

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 16 138 1.5e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153451
SMART Domains Protein: ENSMUSP00000114949
Gene: ENSMUSG00000040952

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 4 72 2.7e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146004
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. 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]
PHENOTYPE: Homozygous null embryos die prior to the formation of a blastocyst. Mice heterozygous for some point mutations show pigment defects affecting the feet and tail. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,884,227 (GRCm39) E330G possibly damaging Het
Apob A C 12: 8,057,752 (GRCm39) D2078A probably benign Het
Arhgap21 T A 2: 20,854,331 (GRCm39) Q1681L probably damaging Het
Arsb A G 13: 93,998,609 (GRCm39) T306A probably benign Het
Brpf3 G A 17: 29,047,394 (GRCm39) D1053N probably damaging Het
Cenpf A T 1: 189,384,795 (GRCm39) I2495N probably benign Het
Col12a1 T C 9: 79,599,634 (GRCm39) K840E possibly damaging Het
Cry1 A G 10: 84,982,619 (GRCm39) L269P probably damaging Het
Cyp21a1 C A 17: 35,021,701 (GRCm39) E289* probably null Het
Dcp2 A T 18: 44,538,581 (GRCm39) K215* probably null Het
Dnaaf11 A G 15: 66,321,400 (GRCm39) I247T probably benign Het
Ecm2 A G 13: 49,683,632 (GRCm39) N537D probably damaging Het
Emid1 G A 11: 5,085,407 (GRCm39) T113M probably benign Het
Exoc8 C T 8: 125,622,918 (GRCm39) W483* probably null Het
Fes A T 7: 80,030,031 (GRCm39) N582K probably damaging Het
Flnb G T 14: 7,905,507 (GRCm38) E1086* probably null Het
Flnc T A 6: 29,455,844 (GRCm39) D2058E possibly damaging Het
Gatb G A 3: 85,561,112 (GRCm39) D543N probably benign Het
Gm14412 A G 2: 177,009,229 (GRCm39) V9A probably damaging Het
Gm4884 T C 7: 40,692,745 (GRCm39) V238A possibly damaging Het
Igfbp5 A G 1: 72,913,096 (GRCm39) V68A possibly damaging Het
Igflr1 T A 7: 30,267,222 (GRCm39) I330N probably damaging Het
Il1r2 A G 1: 40,154,298 (GRCm39) T222A probably benign Het
Krt87 T C 15: 101,330,989 (GRCm39) E419G probably benign Het
Lman2 A G 13: 55,499,315 (GRCm39) S187P probably damaging Het
Mrpl38 T C 11: 116,029,288 (GRCm39) E76G possibly damaging Het
Mtx3 A G 13: 92,984,112 (GRCm39) I130V probably benign Het
Naf1 T G 8: 67,313,188 (GRCm39) probably benign Het
Nkx2-1 T G 12: 56,580,293 (GRCm39) M216L probably benign Het
Notch1 C A 2: 26,350,019 (GRCm39) V2374L probably benign Het
Nrxn2 A G 19: 6,543,037 (GRCm39) D1087G probably benign Het
Nudt8 T C 19: 4,051,902 (GRCm39) F171S probably damaging Het
Or5an1 T G 19: 12,261,224 (GRCm39) F271V probably benign Het
Pds5a A T 5: 65,785,357 (GRCm39) C916* probably null Het
Phyhip A T 14: 70,699,334 (GRCm39) N46Y probably damaging Het
Pomt1 A G 2: 32,140,874 (GRCm39) Y502C possibly damaging Het
Prkcg A C 7: 3,352,097 (GRCm39) probably benign Het
Prl8a6 C T 13: 27,619,369 (GRCm39) E118K probably benign Het
Prpf39 T C 12: 65,104,689 (GRCm39) probably null Het
Ptprb A G 10: 116,205,262 (GRCm39) H2159R probably damaging Het
Ripor2 A T 13: 24,885,595 (GRCm39) D571V probably damaging Het
Rusc1 A G 3: 88,996,128 (GRCm39) S145P probably damaging Het
Scn4a T A 11: 106,230,051 (GRCm39) T586S probably damaging Het
Slc7a12 A G 3: 14,546,124 (GRCm39) S90G possibly damaging Het
Specc1l A G 10: 75,082,410 (GRCm39) D619G probably damaging Het
Src A G 2: 157,304,710 (GRCm39) D143G probably benign Het
Sst T C 16: 23,708,558 (GRCm39) N91S probably benign Het
Stxbp5l T A 16: 37,036,398 (GRCm39) I406F probably damaging Het
Thsd1 T A 8: 22,748,887 (GRCm39) I525N probably damaging Het
Ticam2 A T 18: 46,693,467 (GRCm39) F207I probably damaging Het
Tsc22d1 C A 14: 76,656,180 (GRCm39) N31K probably damaging Het
Tspan10 T C 11: 120,336,989 (GRCm39) V253A probably benign Het
Ttc33 A G 15: 5,237,924 (GRCm39) K99R possibly damaging Het
Vmn1r63 T A 7: 5,806,212 (GRCm39) N140I probably damaging Het
Yju2b C T 8: 84,990,498 (GRCm39) V45I probably benign Het
Zbtb25 A G 12: 76,395,903 (GRCm39) *440Q probably null Het
Zfhx4 T A 3: 5,461,978 (GRCm39) C1218S probably damaging Het
Zfp84 T A 7: 29,476,607 (GRCm39) I433N probably damaging Het
Other mutations in Rps19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Rps19 APN 7 24,587,881 (GRCm39) missense probably damaging 0.98
FR4589:Rps19 UTSW 7 24,588,607 (GRCm39) unclassified probably benign
FR4976:Rps19 UTSW 7 24,588,421 (GRCm39) unclassified probably benign
R4633:Rps19 UTSW 7 24,588,595 (GRCm39) unclassified probably benign
R5247:Rps19 UTSW 7 24,584,878 (GRCm39) missense probably damaging 1.00
R7343:Rps19 UTSW 7 24,584,571 (GRCm39) missense probably damaging 0.98
R7469:Rps19 UTSW 7 24,589,190 (GRCm39) makesense probably null
R7895:Rps19 UTSW 7 24,587,764 (GRCm39) missense possibly damaging 0.96
R8407:Rps19 UTSW 7 24,588,517 (GRCm39) missense unknown
RF013:Rps19 UTSW 7 24,588,605 (GRCm39) unclassified probably benign
RF061:Rps19 UTSW 7 24,588,605 (GRCm39) unclassified probably benign
Z1088:Rps19 UTSW 7 24,585,532 (GRCm39) intron probably benign
Predicted Primers
Posted On 2014-10-15