Incidental Mutation 'RF013:Rps19'
ID 603334
Institutional Source Beutler Lab
Gene Symbol Rps19
Ensembl Gene ENSMUSG00000040952
Gene Name ribosomal protein S19
Synonyms Dsk3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF013 (G1)
Quality Score 175.485
Status Not validated
Chromosome 7
Chromosomal Location 24884371-24889806 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) A to AGAAAAT at 24889180 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000104066
Gene: ENSMUSG00000040952

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

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

Pfam:Ribosomal_S19e 4 143 2.9e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124035
SMART Domains Protein: ENSMUSP00000116311
Gene: ENSMUSG00000040952

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

Pfam:Ribosomal_S19e 4 59 8.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153451
SMART Domains Protein: ENSMUSP00000114949
Gene: ENSMUSG00000040952

Pfam:Ribosomal_S19e 4 72 2.7e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156372
SMART Domains Protein: ENSMUSP00000120774
Gene: ENSMUSG00000040952

Pfam:Ribosomal_S19e 16 138 1.5e-55 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019N19Rik A G 19: 58,789,294 (GRCm38) F28S probably damaging Het
4930435E12Rik T C 16: 38,828,001 (GRCm38) T249A probably benign Het
4932438A13Rik TTAT TTATTATTATTATTAGTAT 3: 37,050,757 (GRCm38) probably benign Het
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,905,096 (GRCm38) probably benign Het
Adamts9 A G 6: 92,943,145 (GRCm38) V4A possibly damaging Het
AI837181 GGC GGCTGC 19: 5,425,232 (GRCm38) probably benign Het
Alk A G 17: 71,895,936 (GRCm38) Y1135H probably damaging Het
Ankhd1 CGGCGG CGGCGGAGGCGG 18: 36,560,926 (GRCm38) probably benign Het
Ano3 A C 2: 110,697,036 (GRCm38) L609R probably benign Het
Bicc1 A G 10: 70,935,830 (GRCm38) probably null Het
Card6 T C 15: 5,100,142 (GRCm38) I591V probably benign Het
Ccdc18 A G 5: 108,220,716 (GRCm38) N1235D probably benign Het
Cd109 TTAT TTATTTATTTATCTAT 9: 78,712,531 (GRCm38) probably benign Het
Cnpy3 CCT CCTGCT 17: 46,736,744 (GRCm38) probably benign Het
Col6a5 GCAGTC GCAGTCTCCAGTC 9: 105,878,597 (GRCm38) probably null Het
Cyp8b1 A T 9: 121,915,495 (GRCm38) M257K possibly damaging Het
Dbf4 A T 5: 8,397,985 (GRCm38) H408Q possibly damaging Het
Defb22 TTGCGGCA TTGCGGCAGAGCTGGCCTGTGCGGCA 2: 152,485,831 (GRCm38) probably benign Het
Ercc6l2 A T 13: 63,853,017 (GRCm38) T417S probably benign Het
Exd2 AGCCACAG A 12: 80,475,932 (GRCm38) probably null Het
Fam171b GC GCAGCATC 2: 83,812,895 (GRCm38) probably benign Het
Flvcr2 T A 12: 85,747,186 (GRCm38) L112Q probably damaging Het
Flywch1 GTG GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG 17: 23,762,175 (GRCm38) probably null Het
Gabre TCAGGCTCAGGCT TCAGGCTCAGGCTCAGGCT X: 72,270,416 (GRCm38) probably benign Het
Gm4884 C A 7: 41,040,809 (GRCm38) P43Q probably damaging Het
Gm6588 T A 5: 112,450,071 (GRCm38) N161K probably benign Het
Grm8 A G 6: 27,363,780 (GRCm38) W579R probably damaging Het
Hsdl2 AG AGCAGCAGCCACAGCTGCCG 4: 59,610,657 (GRCm38) probably benign Het
Ivl CTGCTGCTGCTGCTGT C 3: 92,572,343 (GRCm38) probably benign Het
Kif18b T C 11: 102,912,366 (GRCm38) D506G probably benign Het
Krtap28-10 AGCCAC AGCCACGGCCAC 1: 83,042,135 (GRCm38) probably benign Het
Krtap28-10 GCCACAGCCACCACA GCCACAGCCACCACATCCACAGCCACCACA 1: 83,042,274 (GRCm38) probably benign Het
Lama1 C A 17: 67,781,062 (GRCm38) S1558R Het
Lcmt1 C CCGCGGGGCTT 7: 123,369,836 (GRCm38) probably null Het
Lmna A G 3: 88,484,054 (GRCm38) V494A probably benign Het
Mapk6 CCAC CCACCTCAC 9: 75,388,260 (GRCm38) probably null Het
Mboat7 T A 7: 3,691,857 (GRCm38) H52L probably damaging Het
Med12l CAG CAGAAG 3: 59,275,966 (GRCm38) probably benign Het
Morc2a T A 11: 3,676,191 (GRCm38) M225K probably benign Het
Mpdz G A 4: 81,293,592 (GRCm38) A1566V possibly damaging Het
Mpi T C 9: 57,548,641 (GRCm38) D186G probably benign Het
Mtmr12 C A 15: 12,261,898 (GRCm38) N386K probably damaging Het
Myh3 ATTAC ATTACTTAC 11: 67,086,356 (GRCm38) probably null Het
Myo10 T A 15: 25,799,479 (GRCm38) M1376K probably damaging Het
Nbas C T 12: 13,279,408 (GRCm38) T118I possibly damaging Het
Nedd4l C T 18: 65,209,680 (GRCm38) R755C probably damaging Het
Numa1 T C 7: 101,999,780 (GRCm38) L906P probably damaging Het
Olfr750 G A 14: 51,071,012 (GRCm38) A127V probably damaging Het
Olfr871 T C 9: 20,212,894 (GRCm38) S182P probably benign Het
Otop2 G T 11: 115,323,666 (GRCm38) R83L probably benign Het
Pmm1 T A 15: 81,957,813 (GRCm38) Q62L probably damaging Het
Pramef25 C G 4: 143,948,908 (GRCm38) Q449H probably damaging Het
Ptprj A T 2: 90,471,170 (GRCm38) L206* probably null Het
Rassf6 TC TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC 5: 90,608,941 (GRCm38) probably benign Het
Rsrp1 T A 4: 134,923,955 (GRCm38) V10E unknown Het
Sh2d6 C T 6: 72,516,388 (GRCm38) probably null Het
Six4 TG T 12: 73,103,582 (GRCm38) probably null Het
Slc6a15 T A 10: 103,400,216 (GRCm38) V264D probably damaging Het
Snapc5 ATGGAAGAAGAGG A 9: 64,182,211 (GRCm38) probably benign Het
Sost A T 11: 101,964,132 (GRCm38) I117N probably damaging Het
Tbc1d22a AGGTGTGTG A 15: 86,299,774 (GRCm38) probably null Het
Tcaf1 C T 6: 42,679,173 (GRCm38) V290I probably benign Het
Tcof1 GCA GCACCA 18: 60,835,743 (GRCm38) probably benign Het
Tgfbr1 A G 4: 47,353,354 (GRCm38) I15V unknown Het
Tmem241 A T 18: 11,983,561 (GRCm38) L288Q probably damaging Het
Tnfrsf13b T G 11: 61,141,444 (GRCm38) V100G probably benign Het
Trim66 A G 7: 109,460,753 (GRCm38) S809P probably damaging Het
Tubb4a C G 17: 57,087,464 (GRCm38) G17A possibly damaging Het
Txndc16 A G 14: 45,169,338 (GRCm38) V220A probably benign Het
Zan T A 5: 137,391,720 (GRCm38) Q4830L unknown Het
Other mutations in Rps19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Rps19 APN 7 24,888,456 (GRCm38) missense probably damaging 0.98
FR4589:Rps19 UTSW 7 24,889,182 (GRCm38) unclassified probably benign
FR4976:Rps19 UTSW 7 24,888,996 (GRCm38) unclassified probably benign
R2209:Rps19 UTSW 7 24,885,127 (GRCm38) missense probably benign 0.23
R4633:Rps19 UTSW 7 24,889,170 (GRCm38) unclassified probably benign
R5247:Rps19 UTSW 7 24,885,453 (GRCm38) missense probably damaging 1.00
R7343:Rps19 UTSW 7 24,885,146 (GRCm38) missense probably damaging 0.98
R7469:Rps19 UTSW 7 24,889,765 (GRCm38) makesense probably null
R7895:Rps19 UTSW 7 24,888,339 (GRCm38) missense possibly damaging 0.96
R8407:Rps19 UTSW 7 24,889,092 (GRCm38) missense unknown
RF061:Rps19 UTSW 7 24,889,180 (GRCm38) unclassified probably benign
Z1088:Rps19 UTSW 7 24,886,107 (GRCm38) intron probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-12-04