Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03067:Rpl9'

409743

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpl9

Ensembl Gene

ENSMUSG00000047215

Gene Name

ribosomal protein L9

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL03067

Quality Score

Status

Chromosome

Chromosomal Location

65545707-65548774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65548191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 18 (I18T)

Ref Sequence

ENSEMBL: ENSMUSP00000115577 (fasta)

Gene Model

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

AlphaFold

P51410

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: I18T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000109399
Gene: ENSMUSG00000047215
AA Change: I18T

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
AA Change: I18T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113391
Gene: ENSMUSG00000047215
AA Change: I18T

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: I18T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113704
Gene: ENSMUSG00000047215
AA Change: I18T

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

possibly damaging
Transcript: ENSMUST00000127874
AA Change: I18T

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115577
Gene: ENSMUSG00000047215
AA Change: I18T

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

Predicted Effect

unknown
Transcript: ENSMUST00000196667
AA Change: I16T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128074

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: ENSMUST00000150815

Coding Region Coverage

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 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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,900,909 (GRCm39)	D1162E	probably benign	Het
Abhd2	T	C	7: 79,009,782 (GRCm39)	F386L	probably benign	Het
Adamts6	C	T	13: 104,433,783 (GRCm39)	R71W	probably damaging	Het
Adgrv1	T	C	13: 81,590,599 (GRCm39)	Y4403C	probably damaging	Het
Aldoart1	A	T	4: 72,770,194 (GRCm39)	C205S	possibly damaging	Het
Ap2a1	C	A	7: 44,552,935 (GRCm39)	A711S	probably benign	Het
Arhgef28	A	G	13: 98,124,794 (GRCm39)	I496T	probably benign	Het
Cyp27a1	A	G	1: 74,771,068 (GRCm39)		probably null	Het
Cyp2c69	C	T	19: 39,869,537 (GRCm39)	G161S	probably benign	Het
Dpy19l1	A	G	9: 24,349,956 (GRCm39)	V428A	probably benign	Het
Foxk2	C	T	11: 121,176,394 (GRCm39)	T180M	possibly damaging	Het
Gm3402	C	A	5: 146,451,399 (GRCm39)	H86N	possibly damaging	Het
Gm3543	A	G	14: 41,802,830 (GRCm39)		probably benign	Het
Gnai3	T	C	3: 108,025,609 (GRCm39)		probably benign	Het
Hmcn2	C	T	2: 31,236,642 (GRCm39)	P395L	probably damaging	Het
Igsf10	T	C	3: 59,226,339 (GRCm39)	I2445V	probably benign	Het
Il10ra	T	C	9: 45,167,157 (GRCm39)	T465A	probably benign	Het
Itpr2	G	A	6: 146,226,680 (GRCm39)	L1322F	probably damaging	Het
Man1b1	T	C	2: 25,239,344 (GRCm39)	Y536H	probably benign	Het
P3h1	A	G	4: 119,092,477 (GRCm39)	H170R	probably damaging	Het
Pakap	A	T	4: 57,648,038 (GRCm39)	T59S	probably benign	Het
Parp14	A	G	16: 35,676,878 (GRCm39)	V1030A	probably benign	Het
Pdzd2	A	G	15: 12,388,628 (GRCm39)		probably null	Het
Pilra	T	C	5: 137,821,843 (GRCm39)	Y264C	probably damaging	Het
Ptprf	A	G	4: 118,067,910 (GRCm39)	V1799A	possibly damaging	Het
Rap1gap2	A	G	11: 74,284,238 (GRCm39)	S649P	possibly damaging	Het
Rasgrf2	T	C	13: 92,159,413 (GRCm39)	M426V	probably damaging	Het
Slc6a19	C	A	13: 73,837,849 (GRCm39)	E217*	probably null	Het
Smtn	C	A	11: 3,480,165 (GRCm39)	R352L	possibly damaging	Het
Supv3l1	C	A	10: 62,265,600 (GRCm39)	D647Y	probably damaging	Het
Sv2a	A	G	3: 96,092,498 (GRCm39)	Y66C	probably damaging	Het
Upk1b	A	G	16: 38,605,272 (GRCm39)	I107T	probably damaging	Het
Yif1a	T	C	19: 5,139,813 (GRCm39)	V86A	possibly damaging	Het
Zfp820	T	C	17: 22,038,801 (GRCm39)	T176A	possibly damaging	Het

Other mutations in Rpl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5910:Rpl9	UTSW	5	65,546,044 (GRCm39)	unclassified	probably benign
R7467:Rpl9	UTSW	5	65,548,310 (GRCm39)	missense	probably benign

Posted On

2016-08-02