Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00817:Rps11'

277989

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rps11

Ensembl Gene

ENSMUSG00000003429

Gene Name

ribosomal protein S11

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

IGL00817

Quality Score

Status

Chromosome

Chromosomal Location

44771812-44773813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44772925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 22 (R22Q)

Ref Sequence

ENSEMBL: ENSMUSP00000003521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003521] [ENSMUST00000209927] [ENSMUST00000209711] [ENSMUST00000209815] [ENSMUST00000209467] [ENSMUST00000209212] [ENSMUST00000209812] [ENSMUST00000150350] [ENSMUST00000211725] [ENSMUST00000210918] [ENSMUST00000210191] [ENSMUST00000211037] [ENSMUST00000210967] [ENSMUST00000210931]

AlphaFold

P62281

Predicted Effect

probably benign
Transcript: ENSMUST00000003521
AA Change: R22Q

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

SMART Domains

Protein: ENSMUSP00000003521
Gene: ENSMUSG00000003429
AA Change: R22Q

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17_N	5	73	1.9e-40	PFAM
Pfam:Ribosomal_S17	75	144	1.4e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083944

Predicted Effect

unknown
Transcript: ENSMUST00000209838
AA Change: R9Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198528

Predicted Effect

probably benign
Transcript: ENSMUST00000209927

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209626

Predicted Effect

probably benign
Transcript: ENSMUST00000209711

Predicted Effect

probably benign
Transcript: ENSMUST00000209815

Predicted Effect

probably benign
Transcript: ENSMUST00000209467

Predicted Effect

probably benign
Transcript: ENSMUST00000209212

Predicted Effect

probably benign
Transcript: ENSMUST00000209812

Predicted Effect

probably benign
Transcript: ENSMUST00000150350

SMART Domains

Protein: ENSMUSP00000115722
Gene: ENSMUSG00000074129

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L13	6	122	7e-27	PFAM
low complexity region	169	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211725
AA Change: R22Q

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210134

Predicted Effect

probably benign
Transcript: ENSMUST00000210918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211438

Predicted Effect

probably benign
Transcript: ENSMUST00000210191

Predicted Effect

probably benign
Transcript: ENSMUST00000211037

Predicted Effect

probably benign
Transcript: ENSMUST00000210967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211583

Predicted Effect

probably benign
Transcript: ENSMUST00000210931

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 member of the S17P family of ribosomal proteins that is a component of the 40S subunit. This gene is co-transcribed with the small nucleolar RNA gene U35B, which is located in the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abracl	A	T	10: 17,887,379 (GRCm39)		probably benign	Het
Bcl9	T	C	3: 97,112,460 (GRCm39)	M1332V	probably damaging	Het
Cebpz	T	C	17: 79,242,259 (GRCm39)	Y465C	probably damaging	Het
Dock9	G	T	14: 121,935,703 (GRCm39)	T8K	probably damaging	Het
Emcn	A	G	3: 137,085,638 (GRCm39)	T79A	probably benign	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Homez	G	A	14: 55,094,575 (GRCm39)	R27*	probably null	Het
Ifnlr1	A	G	4: 135,431,596 (GRCm39)	T262A	probably benign	Het
Kif1c	A	G	11: 70,596,079 (GRCm39)	D231G	probably benign	Het
Lipe	T	C	7: 25,087,874 (GRCm39)	D62G	probably damaging	Het
Mtss1	G	A	15: 58,815,481 (GRCm39)		probably null	Het
Myo1e	A	G	9: 70,249,430 (GRCm39)	K510R	probably benign	Het
Neb	T	C	2: 52,133,207 (GRCm39)	K3444E	probably damaging	Het
Pcdha12	C	A	18: 37,154,986 (GRCm39)	H568Q	probably benign	Het
Pck1	T	C	2: 172,995,225 (GRCm39)	V15A	possibly damaging	Het
Polr2h	T	C	16: 20,540,655 (GRCm39)		probably benign	Het
Psmb8	G	A	17: 34,419,703 (GRCm39)	V186I	probably damaging	Het
Psme4	T	C	11: 30,770,129 (GRCm39)	Y750H	probably benign	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Trim67	T	C	8: 125,541,799 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,225,013 (GRCm39)	D540E	probably benign	Het
Wdr4	A	G	17: 31,720,232 (GRCm39)	L240P	possibly damaging	Het

Other mutations in Rps11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Rps11	APN	7	44,772,925 (GRCm39)	missense	probably benign	0.03
R0577:Rps11	UTSW	7	44,772,274 (GRCm39)	missense	probably benign	0.22
R0594:Rps11	UTSW	7	44,773,706 (GRCm39)	splice site	probably benign
R4302:Rps11	UTSW	7	44,772,368 (GRCm39)	missense	probably benign	0.05
R8722:Rps11	UTSW	7	44,772,616 (GRCm39)	missense	probably benign	0.04
R9308:Rps11	UTSW	7	44,772,614 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16