Incidental Mutation 'IGL01590:Rps19'
ID91564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps19
Ensembl Gene ENSMUSG00000040952
Gene Nameribosomal protein S19
SynonymsDsk3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01590
Quality Score
Status
Chromosome7
Chromosomal Location24884371-24889806 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 24888456 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 152 (D152V)
Ref Sequence ENSEMBL: ENSMUSP00000116311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108428] [ENSMUST00000108429] [ENSMUST00000108430] [ENSMUST00000124035] [ENSMUST00000129847] [ENSMUST00000153451] [ENSMUST00000156372]
Predicted Effect possibly damaging
Transcript: ENSMUST00000108428
AA Change: D116V

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104066
Gene: ENSMUSG00000040952
AA Change: D116V

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: D116V

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104067
Gene: ENSMUSG00000040952
AA Change: D116V

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 4 143 2.9e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108430
AA Change: D116V

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104068
Gene: ENSMUSG00000040952
AA Change: D116V

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 4 143 2.9e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124035
AA Change: D152V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116311
Gene: ENSMUSG00000040952
AA Change: D152V

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 noncoding transcript
Transcript: ENSMUST00000146004
Predicted Effect probably benign
Transcript: ENSMUST00000153451
AA Change: D116V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000114949
Gene: ENSMUSG00000040952
AA Change: D116V

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 4 72 2.7e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000156372
AA Change: D127V

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120774
Gene: ENSMUSG00000040952
AA Change: D127V

DomainStartEndE-ValueType
Pfam:Ribosomal_S19e 16 138 1.5e-55 PFAM
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,477,779 probably benign Het
Adgrb2 T G 4: 130,013,813 probably benign Het
Apcs C T 1: 172,894,467 G104D probably damaging Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Cep250 A T 2: 155,992,317 Q2054L possibly damaging Het
Dennd6a T G 14: 26,619,352 V207G probably benign Het
Ehbp1 C A 11: 22,095,611 D688Y possibly damaging Het
Fam83a C A 15: 58,009,777 S334Y probably damaging Het
Fam83e T A 7: 45,723,936 F242Y probably null Het
Fnip1 A T 11: 54,493,300 D341V probably damaging Het
Gm17359 A C 3: 79,449,340 N150T probably damaging Het
Gm5286 G A 3: 94,198,367 probably benign Het
Gpatch3 A G 4: 133,580,717 probably benign Het
Gpc2 C A 5: 138,274,378 V558F probably damaging Het
H2-M10.6 A G 17: 36,812,749 N112D probably benign Het
Hs6st1 A T 1: 36,103,704 D240V probably damaging Het
Inpp5f T A 7: 128,664,307 probably null Het
Itga8 G T 2: 12,160,333 H822N probably damaging Het
Kif20b T A 19: 34,954,726 N1263K possibly damaging Het
Krt28 A G 11: 99,374,394 probably null Het
Muc5ac A T 7: 141,798,893 M706L probably benign Het
Olfr340 A T 2: 36,452,992 M136L probably benign Het
Olfr651 A C 7: 104,553,575 I219L probably benign Het
Prox2 A G 12: 85,088,071 W479R probably damaging Het
Slc20a1 G A 2: 129,209,226 probably benign Het
Slc7a2 C T 8: 40,914,100 P564S probably damaging Het
Slco1a5 C A 6: 142,250,319 M319I probably benign Het
Tanc1 A G 2: 59,785,473 T275A probably benign Het
Tenm3 A G 8: 48,228,802 S2598P probably damaging Het
Tiparp G A 3: 65,531,976 E56K probably benign Het
Trpm5 G A 7: 143,082,734 R489C probably damaging Het
Vmn2r84 C A 10: 130,386,095 G752V probably damaging Het
Wnt5b T A 6: 119,440,554 T130S possibly damaging Het
Other mutations in Rps19
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4589:Rps19 UTSW 7 24889182 unclassified probably benign
FR4976:Rps19 UTSW 7 24888996 unclassified probably benign
R2209:Rps19 UTSW 7 24885127 missense probably benign 0.23
R4633:Rps19 UTSW 7 24889170 unclassified probably benign
R5247:Rps19 UTSW 7 24885453 missense probably damaging 1.00
R7343:Rps19 UTSW 7 24885146 missense probably damaging 0.98
R7469:Rps19 UTSW 7 24889765 makesense probably null
R7895:Rps19 UTSW 7 24888339 missense possibly damaging 0.96
R7978:Rps19 UTSW 7 24888339 missense possibly damaging 0.96
RF013:Rps19 UTSW 7 24889180 unclassified probably benign
RF061:Rps19 UTSW 7 24889180 unclassified probably benign
Z1088:Rps19 UTSW 7 24886107 intron probably benign
Posted On2013-12-09