Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Rps19'

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

Chromosomal Location

24584013-24589236 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to AGAAAAT 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

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

SMART Domains

Protein: ENSMUSP00000104067
Gene: ENSMUSG00000040952

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S19e	4	143	2.9e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108430

SMART Domains

Protein: ENSMUSP00000104068
Gene: ENSMUSG00000040952

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S19e	4	143	2.9e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124035

SMART Domains

Protein: ENSMUSP00000116311
Gene: ENSMUSG00000040952

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

probably benign
Transcript: ENSMUST00000153451

SMART Domains

Protein: ENSMUSP00000114949
Gene: ENSMUSG00000040952

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156372

SMART Domains

Protein: ENSMUSP00000120774
Gene: ENSMUSG00000040952

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Adamts9	A	G	6: 92,920,126 (GRCm39)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,475,260 (GRCm39)		probably benign	Het
Alk	A	G	17: 72,202,931 (GRCm39)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,693,979 (GRCm39)		probably benign	Het
Ano3	A	C	2: 110,527,381 (GRCm39)	L609R	probably benign	Het
Bicc1	A	G	10: 70,771,660 (GRCm39)		probably null	Het
Bltp1	TTAT	TTATTATTATTATTAGTAT	3: 37,104,906 (GRCm39)		probably benign	Het
Card6	T	C	15: 5,129,624 (GRCm39)	I591V	probably benign	Het
Ccdc121rt2	T	A	5: 112,597,937 (GRCm39)	N161K	probably benign	Het
Ccdc18	A	G	5: 108,368,582 (GRCm39)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,619,813 (GRCm39)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 47,047,670 (GRCm39)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,755,796 (GRCm39)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 86,922,485 (GRCm39)		probably benign	Het
Cyp8b1	A	T	9: 121,744,561 (GRCm39)	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,447,985 (GRCm39)	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,327,751 (GRCm39)		probably benign	Het
Ercc6l2	A	T	13: 64,000,831 (GRCm39)	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,522,706 (GRCm39)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,643,239 (GRCm39)		probably benign	Het
Flvcr2	T	A	12: 85,793,960 (GRCm39)	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,981,149 (GRCm39)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 71,314,022 (GRCm39)		probably benign	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm4884	C	A	7: 40,690,233 (GRCm39)	P43Q	probably damaging	Het
Grm8	A	G	6: 27,363,779 (GRCm39)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm39)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,479,650 (GRCm39)		probably benign	Het
Kif18b	T	C	11: 102,803,192 (GRCm39)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,019,856 (GRCm39)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,019,995 (GRCm39)		probably benign	Het
Lama1	C	A	17: 68,088,057 (GRCm39)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 122,969,059 (GRCm39)		probably null	Het
Lmna	A	G	3: 88,391,361 (GRCm39)	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,295,542 (GRCm39)		probably null	Het
Mboat7	T	A	7: 3,694,856 (GRCm39)	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,183,387 (GRCm39)		probably benign	Het
Morc2a	T	A	11: 3,626,191 (GRCm39)	M225K	probably benign	Het
Mpdz	G	A	4: 81,211,829 (GRCm39)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,455,924 (GRCm39)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,984 (GRCm39)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,799,565 (GRCm39)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,329,409 (GRCm39)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,342,751 (GRCm39)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,891,032 (GRCm39)		probably benign	Het
Numa1	T	C	7: 101,648,987 (GRCm39)	L906P	probably damaging	Het
Or6s1	G	A	14: 51,308,469 (GRCm39)	A127V	probably damaging	Het
Or7h8	T	C	9: 20,124,190 (GRCm39)	S182P	probably benign	Het
Otop2	G	T	11: 115,214,492 (GRCm39)	R83L	probably benign	Het
Pmm1	T	A	15: 81,842,014 (GRCm39)	Q62L	probably damaging	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,301,514 (GRCm39)	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,756,800 (GRCm39)		probably benign	Het
Rsrp1	T	A	4: 134,651,266 (GRCm39)	V10E	unknown	Het
Sh2d6	C	T	6: 72,493,371 (GRCm39)		probably null	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Slc6a15	T	A	10: 103,236,077 (GRCm39)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,089,493 (GRCm39)		probably benign	Het
Sost	A	T	11: 101,854,958 (GRCm39)	I117N	probably damaging	Het
Spmip5	A	G	19: 58,777,726 (GRCm39)	F28S	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,183,975 (GRCm39)		probably null	Het
Tcaf1	C	T	6: 42,656,107 (GRCm39)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,968,815 (GRCm39)		probably benign	Het
Tex55	T	C	16: 38,648,363 (GRCm39)	T249A	probably benign	Het
Tgfbr1	A	G	4: 47,353,354 (GRCm39)	I15V	unknown	Het
Tmem241	A	T	18: 12,116,618 (GRCm39)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,032,270 (GRCm39)	V100G	probably benign	Het
Trim66	A	G	7: 109,059,960 (GRCm39)	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,394,464 (GRCm39)	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,406,795 (GRCm39)	V220A	probably benign	Het
Zan	T	A	5: 137,389,982 (GRCm39)	Q4830L	unknown	Het

Other mutations in Rps19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CAGGTGAGAGGTGCACGTTATG -3'
(R):5'- CTGAACCTGTCTGCCACATC -3'

Sequencing Primer
(F):5'- TGTTGAAACAGAGCGGGG -3'
(R):5'- GAACCTGTCTGCCACATCTCTAC -3'

Posted On

2019-12-04