Mutagenetix > Incidental Mutation

Incidental Mutation 'R0082:Rpl9'

19714

Institutional Source

Beutler Lab

Gene Symbol

Rpl9

Ensembl Gene

ENSMUSG00000047215

Gene Name

ribosomal protein L9

Synonyms

MMRRC Submission

038369-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

R0082 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

65545707-65548774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65545995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 167 (V167A)

Ref Sequence

ENSEMBL: ENSMUSP00000113704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031096] [ENSMUST00000031101] [ENSMUST00000057885] [ENSMUST00000118543] [ENSMUST00000120094] [ENSMUST00000122026] [ENSMUST00000127874] [ENSMUST00000200374]

AlphaFold

P51410

Predicted Effect

probably benign
Transcript: ENSMUST00000031096

SMART Domains

Protein: ENSMUSP00000031096
Gene: ENSMUSG00000029195

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_1	77	385	8.8e-96	PFAM
Pfam:Glyco_hydro_1	374	506	1.7e-31	PFAM
Pfam:Glyco_hydro_1	515	965	6.3e-80	PFAM
transmembrane domain	995	1017	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000031101

SMART Domains

Protein: ENSMUSP00000031101
Gene: ENSMUSG00000029199

Domain	Start	End	E-Value	Type
Pfam:LIAS_N	4	110	5.8e-49	PFAM
Elp3	126	332	1.42e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000057885
AA Change: V167A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000109399
Gene: ENSMUSG00000047215
AA Change: V167A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L6	12	87	8.1e-18	PFAM
Pfam:Ribosomal_L6	99	178	7.4e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118543

SMART Domains

Protein: ENSMUSP00000113391
Gene: ENSMUSG00000047215

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L6	12	87	1.1e-19	PFAM
Pfam:Ribosomal_L6	99	165	1.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120094
AA Change: V167A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000113704
Gene: ENSMUSG00000047215
AA Change: V167A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L6	12	87	3e-17	PFAM
Pfam:Ribosomal_L6	99	178	2.9e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122026

SMART Domains

Protein: ENSMUSP00000113228
Gene: ENSMUSG00000029199

Domain	Start	End	E-Value	Type
Elp3	42	248	1.42e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126036

Predicted Effect

unknown
Transcript: ENSMUST00000196667
AA Change: V165A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147966

Predicted Effect

probably benign
Transcript: ENSMUST00000127874

SMART Domains

Protein: ENSMUSP00000115577
Gene: ENSMUSG00000047215

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L6	12	80	3.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150815

Predicted Effect

probably benign
Transcript: ENSMUST00000200374

SMART Domains

Protein: ENSMUSP00000143152
Gene: ENSMUSG00000029199

Domain	Start	End	E-Value	Type
Blast:Elp3	2	54	5e-18	BLAST

Meta Mutation Damage Score

0.2686

Coding Region Coverage

1x: 98.9%
3x: 97.3%
10x: 91.7%
20x: 73.7%

Validation Efficiency

94% (136/144)

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 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	C	12: 21,379,049 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,099,497 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Ankrd33b	T	C	15: 31,297,935 (GRCm39)	N274S	probably benign	Het
Antkmt	T	C	17: 26,010,548 (GRCm39)	I89V	probably benign	Het
Arhgef1	C	T	7: 24,612,030 (GRCm39)	Q100*	probably null	Het
Ccdc180	A	G	4: 45,896,205 (GRCm39)	D118G	probably null	Het
Cdh23	T	C	10: 60,148,366 (GRCm39)	D2667G	probably damaging	Het
Cdh4	A	T	2: 179,535,981 (GRCm39)	N844I	possibly damaging	Het
Cep57	T	C	9: 13,722,172 (GRCm39)		probably benign	Het
Dnah7a	A	T	1: 53,557,867 (GRCm39)	D2182E	probably damaging	Het
Dync1h1	A	G	12: 110,602,880 (GRCm39)	T2174A	probably benign	Het
Eef1akmt2	T	A	7: 132,453,201 (GRCm39)	R44*	probably null	Het
Evpl	T	A	11: 116,125,829 (GRCm39)	I43F	probably damaging	Het
F13a1	G	T	13: 37,172,927 (GRCm39)	P151Q	probably damaging	Het
Galnt5	A	T	2: 57,889,047 (GRCm39)	I216F	possibly damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gpr139	T	A	7: 118,744,268 (GRCm39)	T106S	probably benign	Het
Hoatz	T	C	9: 51,013,102 (GRCm39)	T57A	probably benign	Het
Hoxb3	A	G	11: 96,235,097 (GRCm39)	D8G	probably damaging	Het
Hpse	T	C	5: 100,840,128 (GRCm39)	K330E	possibly damaging	Het
Kcmf1	G	T	6: 72,827,470 (GRCm39)		probably null	Het
Klra2	T	C	6: 131,197,210 (GRCm39)	N263S	possibly damaging	Het
Klra8	T	C	6: 130,102,018 (GRCm39)	D139G	probably benign	Het
Lrrc46	A	C	11: 96,931,903 (GRCm39)		probably benign	Het
Ly86	A	T	13: 37,602,513 (GRCm39)		probably null	Het
Mmp20	C	T	9: 7,642,808 (GRCm39)	T214M	probably benign	Het
Or4k5	A	T	14: 50,385,512 (GRCm39)	I273K	probably damaging	Het
Or52s1b	G	T	7: 102,822,409 (GRCm39)	A145E	probably benign	Het
Or6c1b	T	C	10: 129,273,140 (GRCm39)	I153T	possibly damaging	Het
Or6c209	G	A	10: 129,483,522 (GRCm39)	C175Y	probably benign	Het
Pigg	A	G	5: 108,460,751 (GRCm39)		probably benign	Het
Polq	C	A	16: 36,837,619 (GRCm39)	T177K	probably benign	Het
Pomgnt2	A	T	9: 121,811,326 (GRCm39)	V485E	probably damaging	Het
Ppip5k2	A	T	1: 97,687,057 (GRCm39)	C49*	probably null	Het
Prkrip1	T	C	5: 136,226,682 (GRCm39)	N53D	possibly damaging	Het
Prrc2b	T	C	2: 32,102,310 (GRCm39)		probably benign	Het
Qprt	T	C	7: 126,707,358 (GRCm39)	E246G	probably damaging	Het
Rskr	T	C	11: 78,184,384 (GRCm39)	S244P	probably damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,436,702 (GRCm39)	I43V	probably benign	Het
Slc38a7	A	G	8: 96,567,109 (GRCm39)		probably benign	Het
Slc8b1	A	G	5: 120,662,265 (GRCm39)		probably benign	Het
Sp2	T	C	11: 96,852,525 (GRCm39)	Y133C	probably damaging	Het
Spdye4b	A	T	5: 143,181,430 (GRCm39)	D95V	probably damaging	Het
Srek1	T	C	13: 103,880,194 (GRCm39)	T455A	unknown	Het
Stox2	A	T	8: 47,656,317 (GRCm39)		probably benign	Het
Synrg	T	A	11: 83,878,736 (GRCm39)		probably benign	Het
Tie1	T	A	4: 118,341,550 (GRCm39)	E254V	probably damaging	Het
Tmem97	G	T	11: 78,433,414 (GRCm39)	F160L	probably damaging	Het
Utp6	A	T	11: 79,844,457 (GRCm39)	H189Q	possibly damaging	Het
Vip	T	A	10: 5,594,953 (GRCm39)	*172R	probably null	Het
Wdr91	T	C	6: 34,883,620 (GRCm39)	R132G	possibly damaging	Het
Wipi1	T	C	11: 109,469,110 (GRCm39)		probably benign	Het
Zfp445	A	G	9: 122,681,421 (GRCm39)	V840A	probably damaging	Het

Other mutations in Rpl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03067:Rpl9	APN	5	65,548,191 (GRCm39)	missense	possibly damaging	0.67
R2005:Rpl9	UTSW	5	65,546,878 (GRCm39)	missense	probably benign	0.05
R5620:Rpl9	UTSW	5	65,546,468 (GRCm39)	missense	probably benign	0.03
R5910:Rpl9	UTSW	5	65,546,044 (GRCm39)	unclassified	probably benign
R7467:Rpl9	UTSW	5	65,548,310 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCAAAGTCAAGCACCTCTAGGACC -3'
(R):5'- GCCACTGCTCAGATGAGATCCAAG -3'

Sequencing Primer
(F):5'- AAGCCAATTGTTTCCACGGG -3'
(R):5'- CTCAGATGAGATCCAAGGACAGTG -3'

Posted On

2013-04-11