Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01590:Rps19'

91564

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rps19

Ensembl Gene

ENSMUSG00000040952

Gene Name

ribosomal protein S19

Synonyms

Dsk3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01590

Quality Score

Status

Chromosome

Chromosomal Location

24584013-24589236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24587881 bp (GRCm39)

Zygosity

Heterozygous

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] [ENSMUST00000156372] [ENSMUST00000153451]

AlphaFold

Q9CZX8

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S19e	40	177	1.4e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129847

SMART Domains

Protein: ENSMUSP00000138466
Gene: ENSMUSG00000040952

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S19e	4	59	8.2e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138662

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

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S19e	16	138	1.5e-55	PFAM

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

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S19e	4	72	2.7e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146004

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,482,590 (GRCm39)		probably benign	Het
Adgrb2	T	G	4: 129,907,606 (GRCm39)		probably benign	Het
Apcs	C	T	1: 172,722,034 (GRCm39)	G104D	probably damaging	Het
Atp10b	G	A	11: 43,063,548 (GRCm39)	R161H	probably benign	Het
Cep250	A	T	2: 155,834,237 (GRCm39)	Q2054L	possibly damaging	Het
Dennd6a	T	G	14: 26,340,507 (GRCm39)	V207G	probably benign	Het
Ehbp1	C	A	11: 22,045,611 (GRCm39)	D688Y	possibly damaging	Het
Fam83a	C	A	15: 57,873,173 (GRCm39)	S334Y	probably damaging	Het
Fam83e	T	A	7: 45,373,360 (GRCm39)	F242Y	probably null	Het
Fnip1	A	T	11: 54,384,126 (GRCm39)	D341V	probably damaging	Het
Gpatch3	A	G	4: 133,308,028 (GRCm39)		probably benign	Het
Gpc2	C	A	5: 138,272,640 (GRCm39)	V558F	probably damaging	Het
H2-M10.6	A	G	17: 37,123,641 (GRCm39)	N112D	probably benign	Het
Hs6st1	A	T	1: 36,142,785 (GRCm39)	D240V	probably damaging	Het
Inpp5f	T	A	7: 128,266,031 (GRCm39)		probably null	Het
Itga8	G	T	2: 12,165,144 (GRCm39)	H822N	probably damaging	Het
Kif20b	T	A	19: 34,932,126 (GRCm39)	N1263K	possibly damaging	Het
Krt28	A	G	11: 99,265,220 (GRCm39)		probably null	Het
Muc5ac	A	T	7: 141,352,630 (GRCm39)	M706L	probably benign	Het
Or1j12	A	T	2: 36,343,004 (GRCm39)	M136L	probably benign	Het
Or52h9	A	C	7: 104,202,782 (GRCm39)	I219L	probably benign	Het
Prox2	A	G	12: 85,134,845 (GRCm39)	W479R	probably damaging	Het
Slc20a1	G	A	2: 129,051,146 (GRCm39)		probably benign	Het
Slc7a2	C	T	8: 41,367,137 (GRCm39)	P564S	probably damaging	Het
Slco1a5	C	A	6: 142,196,045 (GRCm39)	M319I	probably benign	Het
Spmip2	A	C	3: 79,356,647 (GRCm39)	N150T	probably damaging	Het
Spopfm3	G	A	3: 94,105,674 (GRCm39)		probably benign	Het
Tanc1	A	G	2: 59,615,817 (GRCm39)	T275A	probably benign	Het
Tenm3	A	G	8: 48,681,837 (GRCm39)	S2598P	probably damaging	Het
Tiparp	G	A	3: 65,439,397 (GRCm39)	E56K	probably benign	Het
Trpm5	G	A	7: 142,636,471 (GRCm39)	R489C	probably damaging	Het
Vmn2r84	C	A	10: 130,221,964 (GRCm39)	G752V	probably damaging	Het
Wnt5b	T	A	6: 119,417,515 (GRCm39)	T130S	possibly damaging	Het

Other mutations in Rps19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
RF061:Rps19	UTSW	7	24,588,605 (GRCm39)	unclassified	probably benign
Z1088:Rps19	UTSW	7	24,585,532 (GRCm39)	intron	probably benign

Posted On

2013-12-09