Mutagenetix > Incidental Mutation

Incidental Mutation 'R4302:Rps11'

322456

Institutional Source

Beutler Lab

Gene Symbol

Rps11

Ensembl Gene

ENSMUSG00000003429

Gene Name

ribosomal protein S11

Synonyms

MMRRC Submission

041089-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R4302 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44771812-44773813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44772368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 80 (M80V)

Ref Sequence

ENSEMBL: ENSMUSP00000003521 (fasta)

Gene Model

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

AlphaFold

P62281

Predicted Effect

probably benign
Transcript: ENSMUST00000003521
AA Change: M80V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000003521
Gene: ENSMUSG00000003429
AA Change: M80V

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: M56V

Predicted Effect

probably benign
Transcript: ENSMUST00000209927

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209340

Predicted Effect

probably benign
Transcript: ENSMUST00000209815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209965

Predicted Effect

probably benign
Transcript: ENSMUST00000209212

Predicted Effect

probably benign
Transcript: ENSMUST00000209467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210073

Predicted Effect

probably benign
Transcript: ENSMUST00000209812

Predicted Effect

probably benign
Transcript: ENSMUST00000209711

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: M80V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000210918

Predicted Effect

probably benign
Transcript: ENSMUST00000210967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210792

Predicted Effect

probably benign
Transcript: ENSMUST00000210931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211494

Predicted Effect

probably benign
Transcript: ENSMUST00000210191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211438

Predicted Effect

probably benign
Transcript: ENSMUST00000211037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210134

Meta Mutation Damage Score

0.1034

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (42/42)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,540,279 (GRCm39)	Y1445C	probably damaging	Het
Arhgef12	G	A	9: 42,929,645 (GRCm39)	Q217*	probably null	Het
Bcas1	A	G	2: 170,260,547 (GRCm39)	V44A	probably benign	Het
Cfap251	T	C	5: 123,431,873 (GRCm39)	I549T	probably benign	Het
Clic4	A	G	4: 134,953,350 (GRCm39)	V98A	probably benign	Het
Col6a3	A	T	1: 90,735,336 (GRCm39)	I771N	probably damaging	Het
Creb3l1	T	C	2: 91,823,664 (GRCm39)	I183V	probably damaging	Het
Dnhd1	T	A	7: 105,343,161 (GRCm39)	W1502R	probably damaging	Het
Dync2h1	A	T	9: 7,077,880 (GRCm39)	S2941T	probably benign	Het
Gm973	A	G	1: 59,590,399 (GRCm39)	Y302C	possibly damaging	Het
Hcfc1	A	G	X: 72,992,972 (GRCm39)	S1398P	probably benign	Het
Igsf10	T	C	3: 59,226,171 (GRCm39)	I2501V	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Loxl4	T	A	19: 42,596,030 (GRCm39)	Y141F	probably benign	Het
Man2a2	T	A	7: 80,001,487 (GRCm39)	E1140V	possibly damaging	Het
Mgam	A	G	6: 40,740,019 (GRCm39)	D1664G	probably benign	Het
Mill2	A	T	7: 18,590,456 (GRCm39)	T179S	probably damaging	Het
Ncf4	T	C	15: 78,144,962 (GRCm39)		probably benign	Het
Nol12	T	C	15: 78,824,341 (GRCm39)	S154P	probably damaging	Het
Nup58	A	G	14: 60,484,875 (GRCm39)	S50P	probably benign	Het
Or11j4	T	C	14: 50,630,903 (GRCm39)	I230T	probably benign	Het
Or12d16-ps1	T	A	17: 37,706,377 (GRCm39)	N315K	probably benign	Het
Or7g30	A	G	9: 19,352,295 (GRCm39)	T29A	probably benign	Het
Pdss1	T	C	2: 22,805,517 (GRCm39)	I265T	probably damaging	Het
Piezo2	T	C	18: 63,257,801 (GRCm39)		probably null	Het
Rad50	T	A	11: 53,592,832 (GRCm39)	N106I	probably benign	Het
Rhpn2	A	G	7: 35,090,270 (GRCm39)	T631A	probably benign	Het
Rrm1	T	C	7: 102,097,031 (GRCm39)	Y104H	probably benign	Het
Sgsm3	T	A	15: 80,894,502 (GRCm39)		probably benign	Het
Slc9c1	A	T	16: 45,365,154 (GRCm39)	L162F	probably benign	Het
Son	A	G	16: 91,455,299 (GRCm39)	T1349A	possibly damaging	Het
Stk24	A	G	14: 121,529,494 (GRCm39)	L386S	probably benign	Het
Tfcp2	G	T	15: 100,412,730 (GRCm39)	N307K	possibly damaging	Het
Trbv21	T	A	6: 41,179,702 (GRCm39)	V6D	probably benign	Het
Trip11	A	T	12: 101,860,027 (GRCm39)	D282E	probably damaging	Het
Ttn	G	T	2: 76,706,811 (GRCm39)		probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r38	A	G	7: 9,100,562 (GRCm39)		probably null	Het
Vps8	T	A	16: 21,314,664 (GRCm39)	L158Q	probably damaging	Het

Other mutations in Rps11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Rps11	APN	7	44,772,925 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCAGTGACTGTCTTGTC -3'
(R):5'- TAACGTCTCCATCCGAGGTC -3'

Sequencing Primer
(F):5'- GTCTAGAGTCATTATCCCAAGCTAC -3'
(R):5'- GTTCTAGGTTCCTGCGTCCAG -3'

Posted On

2015-06-20