Incidental Mutation 'R5247:Rps19'
ID 486807
Institutional Source Beutler Lab
Gene Symbol Rps19
Ensembl Gene ENSMUSG00000040952
Gene Name ribosomal protein S19
Synonyms Dsk3
MMRRC Submission 042818-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5247 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 24584013-24589236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24584878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 36 (S36T)
Ref Sequence ENSEMBL: ENSMUSP00000120774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108428] [ENSMUST00000108429] [ENSMUST00000108430] [ENSMUST00000124035] [ENSMUST00000129847] [ENSMUST00000153451] [ENSMUST00000156372]
AlphaFold Q9CZX8
Predicted Effect probably benign
Transcript: ENSMUST00000108428
AA Change: S25T

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104066
Gene: ENSMUSG00000040952
AA Change: S25T

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
AA Change: S25T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104067
Gene: ENSMUSG00000040952
AA Change: S25T

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 4 143 2.9e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108430
AA Change: S25T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104068
Gene: ENSMUSG00000040952
AA Change: S25T

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 4 143 2.9e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124035
AA Change: S61T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116311
Gene: ENSMUSG00000040952
AA Change: S61T

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 40 177 1.4e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129847
AA Change: S25T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138466
Gene: ENSMUSG00000040952
AA Change: S25T

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 4 59 8.2e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130335
Predicted Effect probably benign
Transcript: ENSMUST00000153451
AA Change: S25T

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114949
Gene: ENSMUSG00000040952
AA Change: S25T

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 4 72 2.7e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156372
AA Change: S36T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120774
Gene: ENSMUSG00000040952
AA Change: S36T

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 16 138 1.5e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146004
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar A T 1: 72,719,343 (GRCm39) V502E probably benign Het
Atad2 A T 15: 57,967,874 (GRCm39) L585* probably null Het
Atp6v0a2 T C 5: 124,790,241 (GRCm39) S475P probably damaging Het
Cacng1 T C 11: 107,607,105 (GRCm39) H38R probably benign Het
Ccdc168 A C 1: 44,096,166 (GRCm39) L1644* probably null Het
Celsr2 A G 3: 108,304,946 (GRCm39) V2168A probably benign Het
Cnot4 C T 6: 35,028,351 (GRCm39) V422I probably damaging Het
Col1a1 T C 11: 94,838,013 (GRCm39) probably null Het
Cspg4b A T 13: 113,455,993 (GRCm39) I680F probably damaging Het
Ctcfl A T 2: 172,955,402 (GRCm39) C287S probably damaging Het
Eps8l1 T A 7: 4,473,401 (GRCm39) D133E probably damaging Het
Fam161b A G 12: 84,404,524 (GRCm39) L52P probably damaging Het
Fam98c T C 7: 28,855,126 (GRCm39) E99G possibly damaging Het
Fmn2 A T 1: 174,648,794 (GRCm39) I1574L probably benign Het
Gabrb3 T A 7: 57,240,339 (GRCm39) L8Q possibly damaging Het
Hck A T 2: 152,976,615 (GRCm39) K250* probably null Het
Herc1 A G 9: 66,341,833 (GRCm39) E1874G probably benign Het
Igf2 G T 7: 142,207,668 (GRCm39) A143D possibly damaging Het
Isg20l2 A G 3: 87,838,920 (GRCm39) N44D possibly damaging Het
Kdm7a T A 6: 39,121,390 (GRCm39) Q855L probably benign Het
Kif15 T C 9: 122,815,507 (GRCm39) S434P possibly damaging Het
Klrc3 A T 6: 129,618,425 (GRCm39) N119K probably damaging Het
L3mbtl3 T C 10: 26,203,706 (GRCm39) M375V unknown Het
Lpcat4 A G 2: 112,072,860 (GRCm39) H173R possibly damaging Het
Mapk13 A T 17: 28,996,725 (GRCm39) Q264L probably benign Het
Mrps18c C G 5: 100,946,659 (GRCm39) C8W probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nlrp4b T A 7: 10,448,145 (GRCm39) I116N probably benign Het
Or10h1 A G 17: 33,418,504 (GRCm39) T161A probably benign Het
Or5b124 T A 19: 13,610,778 (GRCm39) F101Y probably damaging Het
Prdm1 A T 10: 44,316,098 (GRCm39) H679Q probably damaging Het
Prickle2 T A 6: 92,352,950 (GRCm39) S839C probably damaging Het
Serpinb1a T A 13: 33,034,389 (GRCm39) M1L probably damaging Het
Slc16a7 A T 10: 125,067,183 (GRCm39) M152K probably damaging Het
Srpk3 C T X: 72,818,555 (GRCm39) R82* probably null Het
Stx18 A T 5: 38,263,977 (GRCm39) Y141F probably damaging Het
Tgfb2 A T 1: 186,382,111 (GRCm39) probably null Het
Tle7 T C 8: 110,837,209 (GRCm39) F299S probably damaging Het
Tmem151b A T 17: 45,856,571 (GRCm39) Y290N probably damaging Het
Ttn G A 2: 76,558,766 (GRCm39) T29705M probably damaging Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Usp19 T G 9: 108,373,264 (GRCm39) probably null 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
R2209:Rps19 UTSW 7 24,584,552 (GRCm39) missense probably benign 0.23
R4633:Rps19 UTSW 7 24,588,595 (GRCm39) unclassified probably benign
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 PCR Primer
(F):5'- TGTTGGAACTGAGGCCTGAC -3'
(R):5'- TTCAATAATGAGGTCTGTCTCCTGG -3'

Sequencing Primer
(F):5'- GTGACCCCAATGTGTCATTAATC -3'
(R):5'- ATAATGAGGTCTGTCTCCTGGTGTAG -3'
Posted On 2017-08-17