Incidental Mutation 'RF061:Rps19'
ID 605408
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 # RF061 (G1)
Quality Score 214.463
Status Not validated
Chromosome 7
Chromosomal Location 24584013-24589236 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) AAAAAAT to AAAAAATAAAAAT at 24588605 bp (GRCm39)
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

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
SMART Domains Protein: ENSMUSP00000116311
Gene: ENSMUSG00000040952

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 probably benign
Transcript: ENSMUST00000153451
SMART Domains Protein: ENSMUSP00000114949
Gene: ENSMUSG00000040952

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

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 16 138 1.5e-55 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.7%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik ACTT ACTTACTT 8: 125,566,570 (GRCm39) probably null Het
Abi3bp GCCCACGACCC GCCCACGACCCACGACCC 16: 56,447,950 (GRCm39) probably null Het
Ankhd1 GGCGGC GGCGGCCGCGGC 18: 36,693,974 (GRCm39) probably benign Het
Ankrd24 GAGGC GAGGCGGAGGCATAGGC 10: 81,479,401 (GRCm39) probably null Het
Bpifb4 A ACCTCCAC 2: 153,799,048 (GRCm39) probably benign Het
Chga CAG CAGAAG 12: 102,527,672 (GRCm39) probably benign Het
Chga G GCAC 12: 102,527,686 (GRCm39) probably benign Het
Cyb5r4 ACACTGCCCAGGGA ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA 9: 86,922,488 (GRCm39) probably benign Het
Dnmt1 CAGTTCCTACCTCGTT CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT 9: 20,821,426 (GRCm39) probably null Het
Fbrsl1 GTGCTGGTGCGT GTGCTGGTGCGTCTGCTGGTGCGT 5: 110,525,997 (GRCm39) probably benign Het
Gabre GCTCCG GCTCCGACTCCG X: 71,313,654 (GRCm39) probably benign Het
Hsdl2 AG AGCAGCAGCCACAGCTGCTG 4: 59,610,657 (GRCm39) probably benign Het
Il2 GGG GGGGCTTGAAGTGGG 3: 37,179,990 (GRCm39) probably benign Het
Krtap28-10 CCACCACAGC CCACCACAGCCACAGACACCACAGC 1: 83,020,002 (GRCm39) probably benign Het
Lrch1 GCTGGTGGT G 14: 75,184,995 (GRCm39) probably null Het
Lrch1 GGTGGTGTTG GG 14: 75,185,007 (GRCm39) probably null Het
Mamld1 AGC AGCCGC X: 70,162,456 (GRCm39) probably benign Het
Map1a TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCCGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC 2: 121,136,768 (GRCm39) probably benign Het
Or10n7-ps1 GA GATATA 9: 39,598,049 (GRCm39) probably null Het
Pdcd11 AGGAGGAGG AG 19: 47,101,884 (GRCm39) probably null Het
Pknox2 ACACACACACACACACTCAC ACAC 9: 36,820,905 (GRCm39) probably benign Het
Rfx5 A T 3: 94,863,070 (GRCm39) K54I probably damaging Het
Rragd CATGCCTTTCATTCTA C 4: 32,995,150 (GRCm39) probably benign Het
Sbp GACAACA GACAACACAGATGCTAACAACA 17: 24,164,351 (GRCm39) probably benign Het
Stab2 CTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 10: 86,702,622 (GRCm39) probably benign Het
Tfeb CAG CAGGAG 17: 48,097,017 (GRCm39) probably benign Het
Trim33 GGCCCCCGC GGC 3: 103,187,533 (GRCm39) probably benign Het
Zfp598 ACAACCAC ACAACCACAACCAC 17: 24,899,744 (GRCm39) probably benign 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
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
Z1088:Rps19 UTSW 7 24,585,532 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- CAGGTGAGAGGTGCACGTTATG -3'
(R):5'- TCACTCTACAAAGTCTGGGCCTG -3'

Sequencing Primer
(F):5'- TGTTGAAACAGAGCGGGG -3'
(R):5'- TACAAAGTCTGGGCCTGAACCTG -3'
Posted On 2019-12-04