Mutagenetix > Incidental Mutation

Incidental Mutation 'R4633:Rps19'

349345

Institutional Source

Beutler Lab

Gene Symbol

Rps19

Ensembl Gene

ENSMUSG00000040952

Gene Name

ribosomal protein S19

Synonyms

Dsk3

MMRRC Submission

041898-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4633 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

24584013-24589236 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 24588595 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

unknown
Transcript: ENSMUST00000108428
AA Change: R207L

SMART Domains

Protein: ENSMUSP00000104066
Gene: ENSMUSG00000040952
AA Change: R207L

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

noncoding transcript
Transcript: ENSMUST00000130335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146004

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

95% (73/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,606,503 (GRCm39)	L786Q	probably null	Het
Abcb6	A	T	1: 75,154,426 (GRCm39)		probably benign	Het
Alg10b	T	C	15: 90,112,497 (GRCm39)	V447A	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
B4galt7	A	G	13: 55,756,563 (GRCm39)	H203R	probably damaging	Het
Cd44	T	G	2: 102,683,392 (GRCm39)	D214A	possibly damaging	Het
Ces1c	T	C	8: 93,845,014 (GRCm39)	D275G	probably benign	Het
Cnot11	G	T	1: 39,575,299 (GRCm39)	W127L	probably benign	Het
Csmd1	A	G	8: 16,052,620 (GRCm39)	I2168T	probably damaging	Het
Cyp3a59	T	C	5: 146,031,248 (GRCm39)	F137S	probably damaging	Het
Dst	T	A	1: 34,209,515 (GRCm39)	L1234Q	probably damaging	Het
Erbb2	T	A	11: 98,323,814 (GRCm39)	I676N	possibly damaging	Het
Erlin1	G	A	19: 44,029,204 (GRCm39)	R243C	probably damaging	Het
Fanci	T	C	7: 79,076,990 (GRCm39)	L576P	probably damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Glg1	C	T	8: 111,904,276 (GRCm39)		probably null	Het
Gpr139	A	T	7: 118,743,628 (GRCm39)	I319N	probably damaging	Het
Hectd4	C	A	5: 121,487,279 (GRCm39)	H3425N	probably benign	Het
Itga10	A	G	3: 96,555,020 (GRCm39)	D118G	possibly damaging	Het
Klra13-ps	T	G	6: 130,268,136 (GRCm39)		noncoding transcript	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Krt5	T	A	15: 101,620,042 (GRCm39)	D225V	probably damaging	Het
Krtap4-9	G	T	11: 99,676,380 (GRCm39)		probably benign	Het
Lama1	C	A	17: 68,105,579 (GRCm39)	A2029E	probably damaging	Het
Lrp2	T	A	2: 69,291,761 (GRCm39)	T3473S	probably benign	Het
Lrrc37	A	T	11: 103,509,957 (GRCm39)		probably benign	Het
Lrriq1	G	A	10: 103,036,424 (GRCm39)	R910*	probably null	Het
Map1b	C	T	13: 99,571,450 (GRCm39)	V424M	probably damaging	Het
Mrtfb	T	C	16: 13,197,737 (GRCm39)	I85T	possibly damaging	Het
Mylk2	T	C	2: 152,759,335 (GRCm39)	S369P	probably benign	Het
Myom3	T	G	4: 135,503,010 (GRCm39)	F362L	probably benign	Het
Nomo1	A	G	7: 45,699,684 (GRCm39)		probably benign	Het
Or10s1	T	A	9: 39,985,630 (GRCm39)	V13E	probably damaging	Het
Or1p1	T	G	11: 74,180,120 (GRCm39)	M216R	probably benign	Het
Or2l13b	C	T	16: 19,349,034 (GRCm39)	G212D	possibly damaging	Het
Or2w4	A	G	13: 21,795,398 (GRCm39)	V247A	probably damaging	Het
Parp4	C	T	14: 56,885,048 (GRCm39)	L1376F	unknown	Het
Phykpl	C	A	11: 51,484,435 (GRCm39)	A208E	probably damaging	Het
Pla2g15	T	C	8: 106,886,887 (GRCm39)	F126S	probably damaging	Het
Polq	T	G	16: 36,868,904 (GRCm39)	M479R	probably damaging	Het
Prpf4b	A	G	13: 35,084,425 (GRCm39)	T938A	probably damaging	Het
Psma1	A	G	7: 113,870,369 (GRCm39)	M63T	probably damaging	Het
Rbpms2	T	C	9: 65,558,918 (GRCm39)	S174P	probably benign	Het
Rcc1	G	T	4: 132,063,080 (GRCm39)	S162R	probably damaging	Het
Rev3l	T	G	10: 39,722,182 (GRCm39)	L2520R	probably damaging	Het
Rhobtb1	T	A	10: 69,085,443 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Selenof	C	T	3: 144,302,622 (GRCm39)	R116*	probably null	Het
Slc16a11	T	C	11: 70,107,205 (GRCm39)		probably null	Het
Stk3	A	G	15: 34,959,074 (GRCm39)	V296A	probably damaging	Het
Taar8b	C	A	10: 23,968,150 (GRCm39)	E15*	probably null	Het
Tas2r102	T	A	6: 132,739,642 (GRCm39)	N183K	possibly damaging	Het
Tet2	T	A	3: 133,191,310 (GRCm39)	E1041D	probably benign	Het
Tm9sf1	A	G	14: 55,878,660 (GRCm39)	V244A	probably damaging	Het
Trgc4	G	T	13: 19,536,457 (GRCm39)	V172F	probably benign	Het
Trim24	T	A	6: 37,933,371 (GRCm39)	I650K	probably damaging	Het
Trim59	G	T	3: 68,944,747 (GRCm39)	Q198K	probably benign	Het
Ttc28	C	T	5: 111,371,867 (GRCm39)	T772I	probably damaging	Het
Tvp23a	C	T	16: 10,244,909 (GRCm39)	V146M	probably benign	Het
Usp17la	A	T	7: 104,509,428 (GRCm39)	D11V	possibly damaging	Het
Usp48	A	G	4: 137,362,211 (GRCm39)	K32R	probably damaging	Het
Uspl1	A	G	5: 149,151,202 (GRCm39)	K801E	probably damaging	Het
Utp20	T	C	10: 88,588,814 (GRCm39)	I2452V	probably benign	Het
Vps18	T	C	2: 119,123,757 (GRCm39)	L228P	probably damaging	Het
Yju2b	T	C	8: 84,987,024 (GRCm39)	T158A	probably benign	Het
Zfp410	A	T	12: 84,372,510 (GRCm39)	D112V	probably damaging	Het
Zfp872	G	T	9: 22,108,490 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,768,891 (GRCm39)	E1110G	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CAGGTGAGAGGTGCACGTTATG -3'
(R):5'- AAAGTCTGGGCCTGAACCTG -3'

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

Posted On

2015-10-08