Mutagenetix > Incidental Mutation

Incidental Mutation 'R7895:Rps19'

609596

Institutional Source

Beutler Lab

Gene Symbol

Rps19

Ensembl Gene

ENSMUSG00000040952

Gene Name

ribosomal protein S19

Synonyms

Dsk3

MMRRC Submission

045947-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7895 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24584013-24589236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24587764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 77 (K77M)

Ref Sequence

ENSEMBL: ENSMUSP00000104066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108428] [ENSMUST00000108429] [ENSMUST00000108430] [ENSMUST00000124035] [ENSMUST00000129847] [ENSMUST00000153451] [ENSMUST00000156372]

AlphaFold

Q9CZX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108428
AA Change: K77M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104066
Gene: ENSMUSG00000040952
AA Change: K77M

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

possibly damaging
Transcript: ENSMUST00000108429
AA Change: K77M

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104067
Gene: ENSMUSG00000040952
AA Change: K77M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108430
AA Change: K77M

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104068
Gene: ENSMUSG00000040952
AA Change: K77M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124035
AA Change: K113M

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116311
Gene: ENSMUSG00000040952
AA Change: K113M

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

possibly damaging
Transcript: ENSMUST00000153451
AA Change: K77M

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114949
Gene: ENSMUSG00000040952
AA Change: K77M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156372
AA Change: K88M

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120774
Gene: ENSMUSG00000040952
AA Change: K88M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (92/93)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,106,295 (GRCm39)	S143T	probably benign	Het
9030624G23Rik	A	T	12: 24,094,724 (GRCm39)	M149K	unknown	Het
Aadacl4fm4	A	T	4: 144,396,913 (GRCm39)	I273K	possibly damaging	Het
Agpat3	T	A	10: 78,119,034 (GRCm39)	I187F	probably benign	Het
Ahcyl1	C	T	3: 107,576,467 (GRCm39)	A332T	probably damaging	Het
Aldh3b3	A	G	19: 4,014,871 (GRCm39)	I123V	possibly damaging	Het
Ap5z1	T	A	5: 142,456,313 (GRCm39)		probably null	Het
Apob	A	T	12: 8,061,933 (GRCm39)	I3472F	probably benign	Het
Arhgef33	C	T	17: 80,680,914 (GRCm39)	P685S	probably benign	Het
Arhgef4	T	C	1: 34,845,478 (GRCm39)	I130T	probably damaging	Het
Arnt2	A	T	7: 83,954,406 (GRCm39)	F263I	probably benign	Het
Bbof1	A	G	12: 84,466,763 (GRCm39)	R177G	probably damaging	Het
Bbs2	C	A	8: 94,807,764 (GRCm39)	G372W	probably damaging	Het
Blmh	T	A	11: 76,836,721 (GRCm39)		probably null	Het
Ccdc30	A	T	4: 119,209,910 (GRCm39)		probably null	Het
Cdca7l	G	T	12: 117,837,467 (GRCm39)	L219F	probably damaging	Het
Cenpu	C	A	8: 47,015,499 (GRCm39)	A138E	probably benign	Het
Cfap65	T	A	1: 74,972,321 (GRCm39)	T13S	probably benign	Het
Clasp2	A	G	9: 113,733,016 (GRCm39)	M951V	probably benign	Het
Clca4a	A	G	3: 144,674,166 (GRCm39)	S190P	probably benign	Het
Clcn4	A	G	7: 7,298,167 (GRCm39)	V74A	probably benign	Het
Cntln	C	T	4: 84,981,561 (GRCm39)	T913M	possibly damaging	Het
Cntnap4	T	A	8: 113,478,829 (GRCm39)	V185E	probably damaging	Het
Col26a1	C	T	5: 136,777,031 (GRCm39)		probably null	Het
Ctcf	A	T	8: 106,390,690 (GRCm39)	Q99L	possibly damaging	Het
Dgke	T	C	11: 88,931,682 (GRCm39)	Q524R	probably damaging	Het
Dhrs7	A	T	12: 72,699,234 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,289,110 (GRCm39)	Y2969H	probably damaging	Het
Dync1h1	T	G	12: 110,582,891 (GRCm39)	I358S	probably damaging	Het
Efcab3	A	C	11: 105,008,150 (GRCm39)	D410A	probably benign	Het
Emilin2	T	C	17: 71,580,908 (GRCm39)	D606G	probably benign	Het
Ermard	C	T	17: 15,283,875 (GRCm39)	T622I	possibly damaging	Het
Exo1	A	G	1: 175,728,562 (GRCm39)	D542G	probably benign	Het
Fgd5	A	T	6: 91,964,262 (GRCm39)	D165V	probably benign	Het
Gdap1	T	C	1: 17,231,368 (GRCm39)	W238R	probably damaging	Het
Gm11096	T	G	17: 81,749,328 (GRCm39)	I7M	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gmppb	A	T	9: 107,927,770 (GRCm39)	M175L	probably benign	Het
Gorasp2	G	A	2: 70,514,442 (GRCm39)	S273N	probably benign	Het
Gtf3c1	T	C	7: 125,271,994 (GRCm39)	M642V	possibly damaging	Het
Hmx2	T	A	7: 131,157,600 (GRCm39)	L238Q	probably damaging	Het
Kif13b	A	G	14: 64,973,598 (GRCm39)	D316G	probably damaging	Het
Kmt2c	A	G	5: 25,578,174 (GRCm39)	S701P	possibly damaging	Het
Lama4	T	A	10: 38,964,325 (GRCm39)	N1332K	probably damaging	Het
Lrp2	T	C	2: 69,288,823 (GRCm39)	D3681G	probably damaging	Het
Maml3	G	T	3: 51,605,143 (GRCm39)	P722Q	probably damaging	Het
Mier2	C	A	10: 79,377,719 (GRCm39)		probably benign	Het
Ms4a15	A	T	19: 10,956,694 (GRCm39)		probably null	Het
Msh5	T	C	17: 35,263,355 (GRCm39)	M158V	probably benign	Het
Nova2	A	T	7: 18,676,270 (GRCm39)	K136I		Het
Npm1	A	T	11: 33,106,001 (GRCm39)		probably null	Het
Nr4a3	T	A	4: 48,051,390 (GRCm39)	M48K	probably benign	Het
Nrap	T	G	19: 56,342,584 (GRCm39)	T806P	probably benign	Het
Ntf3	G	A	6: 126,079,203 (GRCm39)	T101M	probably benign	Het
Or2aj4	G	A	16: 19,385,472 (GRCm39)	R54*	probably null	Het
Paxbp1	T	A	16: 90,822,166 (GRCm39)	D648V	probably damaging	Het
Pcdhb18	T	A	18: 37,623,520 (GRCm39)	D283E	probably benign	Het
Phrf1	C	A	7: 140,839,288 (GRCm39)	Q828K	unknown	Het
Pigq	A	T	17: 26,156,299 (GRCm39)	I43N	probably benign	Het
Pou6f2	G	T	13: 18,300,033 (GRCm39)	T542K		Het
Ppfibp2	T	A	7: 107,320,524 (GRCm39)		probably null	Het
Rab1b	A	T	19: 5,150,524 (GRCm39)	M163K	probably benign	Het
Ralgapa1	A	G	12: 55,793,934 (GRCm39)	M567T	probably benign	Het
Reck	T	C	4: 43,890,970 (GRCm39)	V36A	probably benign	Het
Resp18	C	T	1: 75,254,846 (GRCm39)	D36N	probably null	Het
Rint1	A	C	5: 24,005,720 (GRCm39)	H134P	probably damaging	Het
Sec24b	A	T	3: 129,789,598 (GRCm39)	S808T	probably benign	Het
Sema4c	A	C	1: 36,592,199 (GRCm39)	V216G	probably damaging	Het
Septin10	T	A	10: 59,016,871 (GRCm39)	T218S	probably benign	Het
Septin3	A	T	15: 82,170,020 (GRCm39)	H182L	probably benign	Het
Sipa1	A	G	19: 5,702,690 (GRCm39)	S836P	probably benign	Het
Slc9a5	A	G	8: 106,089,998 (GRCm39)	K652R	probably damaging	Het
Slco5a1	T	A	1: 13,059,927 (GRCm39)	I265F	possibly damaging	Het
Snapc5	T	A	9: 64,086,614 (GRCm39)	M1K	probably null	Het
Snx5	T	A	2: 144,095,740 (GRCm39)	D307V	possibly damaging	Het
Srebf2	A	T	15: 82,061,441 (GRCm39)	M381L	probably benign	Het
Ssh2	G	C	11: 77,345,452 (GRCm39)	E1146Q	probably benign	Het
Suco	A	T	1: 161,672,937 (GRCm39)		probably null	Het
Tanc2	T	A	11: 105,812,651 (GRCm39)	L1365Q	probably damaging	Het
Tas1r3	A	G	4: 155,947,005 (GRCm39)	L200P	probably damaging	Het
Thbs2	T	G	17: 14,896,483 (GRCm39)	D802A	probably damaging	Het
Trav3-1	G	A	14: 52,818,550 (GRCm39)	V75M	probably benign	Het
Trim9	G	A	12: 70,301,961 (GRCm39)	P559L	probably benign	Het
Trpc6	G	A	9: 8,655,219 (GRCm39)	G683D	probably damaging	Het
Unc5b	C	A	10: 60,615,509 (GRCm39)	V164L	possibly damaging	Het
Usf3	A	T	16: 44,036,565 (GRCm39)	R348S	possibly damaging	Het
Vmn1r236	T	C	17: 21,507,728 (GRCm39)	V282A	possibly damaging	Het
Vmn2r1	A	G	3: 63,997,130 (GRCm39)	E262G	possibly damaging	Het
Xirp2	A	G	2: 67,339,841 (GRCm39)	E694G	probably damaging	Het
Xpo4	T	A	14: 57,840,048 (GRCm39)	H572L	probably benign	Het
Zfhx4	A	G	3: 5,307,259 (GRCm39)	T162A	probably benign	Het
Zfp110	T	A	7: 12,571,020 (GRCm39)	H59Q	possibly 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
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
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'- TTGGTGAGGGGCAAAGATCC -3'
(R):5'- ACCTTCATTTATAGGGAGGTCCAAC -3'

Sequencing Primer
(F):5'- GCAAAGATCCAGGGGTGTC -3'
(R):5'- TTTATAGGGAGGTCCAACAACCC -3'

Posted On

2019-12-20