Mutagenetix > Incidental Mutation

Incidental Mutation 'R5910:Rpl9'

460910

Institutional Source

Beutler Lab

Gene Symbol

Rpl9

Ensembl Gene

ENSMUSG00000047215

Gene Name

ribosomal protein L9

Synonyms

MMRRC Submission

044107-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.320) question?

Stock #

R5910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65545707-65548774 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 65546044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143152 (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

SMART Domains

Protein: ENSMUSP00000109399
Gene: ENSMUSG00000047215

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

SMART Domains

Protein: ENSMUSP00000113704
Gene: ENSMUSG00000047215

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

noncoding transcript
Transcript: ENSMUST00000147660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128074

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196667

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

95% (93/98)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,645,076 (GRCm39)	N976D	probably damaging	Het
Adamts1	G	A	16: 85,599,037 (GRCm39)	R188W	probably benign	Het
Adcy4	A	T	14: 56,016,470 (GRCm39)	V327D	probably damaging	Het
Alg8	T	C	7: 97,039,493 (GRCm39)	I408T	possibly damaging	Het
Ankib1	T	C	5: 3,743,217 (GRCm39)	S933G	probably benign	Het
Ap2a2	A	G	7: 141,178,691 (GRCm39)	D106G	probably damaging	Het
Arhgap22	A	T	14: 33,088,572 (GRCm39)	H351L	probably damaging	Het
Arhgef2	A	G	3: 88,542,327 (GRCm39)	Y310C	probably damaging	Het
Atm	A	T	9: 53,359,380 (GRCm39)	S2804R	probably damaging	Het
Baz2b	A	G	2: 59,807,770 (GRCm39)	L163P	possibly damaging	Het
Bcl2l12	C	T	7: 44,645,967 (GRCm39)		probably null	Het
Cdh23	A	G	10: 60,213,600 (GRCm39)	V1495A	possibly damaging	Het
Cep78	A	G	19: 15,946,492 (GRCm39)	S447P	possibly damaging	Het
Cfap43	G	A	19: 47,768,710 (GRCm39)	T778I	possibly damaging	Het
Cfap54	A	T	10: 92,901,043 (GRCm39)	N170K	probably damaging	Het
Cmya5	A	T	13: 93,229,151 (GRCm39)	L1979Q	probably damaging	Het
Col15a1	A	T	4: 47,289,514 (GRCm39)	E846D	probably damaging	Het
Col5a1	A	G	2: 27,926,900 (GRCm39)	K308E	possibly damaging	Het
Dcst1	T	A	3: 89,257,731 (GRCm39)	T680S	possibly damaging	Het
Dsp	T	C	13: 38,376,445 (GRCm39)	L1410P	possibly damaging	Het
Edem3	T	A	1: 151,646,578 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,581,760 (GRCm39)	E34V	probably benign	Het
Eif4e2	T	A	1: 87,148,696 (GRCm39)	Y64N	probably damaging	Het
Fcgbp	C	T	7: 27,784,928 (GRCm39)		probably benign	Het
Gm7275	A	T	16: 47,893,826 (GRCm39)		noncoding transcript	Het
Grin3b	G	T	10: 79,808,855 (GRCm39)	V202L	probably benign	Het
Gsdmc4	G	A	15: 63,767,101 (GRCm39)	S223F	possibly damaging	Het
H2bc14	A	G	13: 21,906,470 (GRCm39)	N68S	probably benign	Het
Hbp1	T	C	12: 31,987,651 (GRCm39)	H183R	probably benign	Het
Hectd3	A	G	4: 116,859,331 (GRCm39)	M652V	probably benign	Het
Hmgxb4	T	C	8: 75,726,193 (GRCm39)	F13L	probably benign	Het
Hnrnpab	T	C	11: 51,492,281 (GRCm39)	K271R	probably benign	Het
Ilvbl	A	T	10: 78,412,947 (GRCm39)	K156N	probably benign	Het
Iqce	A	T	5: 140,687,973 (GRCm39)		probably benign	Het
Itpr2	C	A	6: 146,231,069 (GRCm39)	V1194L	probably benign	Het
Kif18b	A	G	11: 102,804,370 (GRCm39)	F384L	probably benign	Het
Klf14	A	G	6: 30,934,774 (GRCm39)	Y287H	probably benign	Het
Klhl6	A	G	16: 19,775,844 (GRCm39)	M238T	probably benign	Het
Lbp	G	A	2: 158,166,477 (GRCm39)	V344I	probably benign	Het
Lrp12	T	C	15: 39,739,439 (GRCm39)		probably null	Het
Mapk7	T	A	11: 61,384,447 (GRCm39)	M1L	probably benign	Het
Muc5b	A	G	7: 141,415,048 (GRCm39)	T2665A	possibly damaging	Het
Ncln	A	T	10: 81,331,912 (GRCm39)		probably null	Het
Nfxl1	T	C	5: 72,697,708 (GRCm39)	R347G	probably benign	Het
Npnt	C	A	3: 132,612,179 (GRCm39)	C231F	probably damaging	Het
Nrap	T	A	19: 56,330,743 (GRCm39)	H1070L	probably benign	Het
Nrxn1	G	T	17: 91,011,746 (GRCm39)	Y294*	probably null	Het
Or4c126	A	G	2: 89,823,782 (GRCm39)	D15G	probably benign	Het
Or9s27	T	C	1: 92,516,429 (GRCm39)	Y126H	probably damaging	Het
Otog	A	G	7: 45,948,022 (GRCm39)	H2341R	possibly damaging	Het
Paqr3	T	C	5: 97,243,887 (GRCm39)		probably null	Het
Pcdhb11	T	C	18: 37,556,796 (GRCm39)	F709L	probably benign	Het
Phf12	G	A	11: 77,918,224 (GRCm39)	R812Q	probably damaging	Het
Polr2a	A	T	11: 69,637,696 (GRCm39)	L216Q	probably damaging	Het
Polrmt	A	G	10: 79,579,331 (GRCm39)	L140P	probably benign	Het
Pou2f3	C	T	9: 43,045,769 (GRCm39)		probably null	Het
Prkcd	A	T	14: 30,317,938 (GRCm39)	N548K	probably benign	Het
Pygb	A	G	2: 150,657,620 (GRCm39)	D361G	probably benign	Het
Rubcnl	A	T	14: 75,272,912 (GRCm39)	T211S	probably benign	Het
Rusc1	C	T	3: 88,999,027 (GRCm39)	G252S	probably benign	Het
Scnn1g	A	G	7: 121,337,318 (GRCm39)	T60A	probably damaging	Het
Sipa1l2	T	G	8: 126,218,423 (GRCm39)	T305P	probably benign	Het
Slc18b1	T	A	10: 23,700,565 (GRCm39)		probably benign	Het
Sp100	G	A	1: 85,608,861 (GRCm39)		probably null	Het
Tekt5	A	T	16: 10,205,017 (GRCm39)		probably null	Het
Tlnrd1	T	A	7: 83,533,693 (GRCm39)		probably benign	Het
Tpcn1	A	G	5: 120,685,462 (GRCm39)		probably benign	Het
Tpcn2	T	C	7: 144,814,719 (GRCm39)	I461V	probably benign	Het
Traf3ip1	A	G	1: 91,455,467 (GRCm39)	K643E	probably damaging	Het
Trim33	T	C	3: 103,251,892 (GRCm39)	C914R	probably damaging	Het
Trip11	G	A	12: 101,849,738 (GRCm39)	T1442I	probably damaging	Het
Ttll6	A	G	11: 96,026,415 (GRCm39)	M107V	possibly damaging	Het
Uap1l1	A	G	2: 25,253,445 (GRCm39)		probably benign	Het
Ube3b	T	A	5: 114,553,370 (GRCm39)	I914N	possibly damaging	Het
Usp24	A	G	4: 106,237,665 (GRCm39)	T1107A	probably damaging	Het
Usp40	A	T	1: 87,896,122 (GRCm39)	C811*	probably null	Het
Vps11	T	C	9: 44,270,432 (GRCm39)		probably null	Het
Wdr91	A	T	6: 34,868,422 (GRCm39)	I433N	possibly damaging	Het
Zfp770	G	C	2: 114,026,713 (GRCm39)	S452*	probably null	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
R0082:Rpl9	UTSW	5	65,545,995 (GRCm39)	missense	probably benign	0.01
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
R7467:Rpl9	UTSW	5	65,548,310 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCAATATTCCTGCTCAGAAAG -3'
(R):5'- AATTGGGTGGCACATGGCTG -3'

Sequencing Primer
(F):5'- TGTGCTCATCCGAAGCAGTCAG -3'
(R):5'- GGCACATGGCTGGCTTG -3'

Posted On

2017-02-28