Mutagenetix > Incidental Mutation

Incidental Mutation 'R0577:Rps11'

56262

Institutional Source

Beutler Lab

Gene Symbol

Rps11

Ensembl Gene

ENSMUSG00000003429

Gene Name

ribosomal protein S11

Synonyms

MMRRC Submission

038767-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R0577 (G1)

Quality Score

139

Status

Validated

Chromosome

Chromosomal Location

44771812-44773813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44772274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 111 (V111A)

Ref Sequence

ENSEMBL: ENSMUSP00000147630 (fasta)

Gene Model

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

AlphaFold

P62281

Predicted Effect

probably benign
Transcript: ENSMUST00000003521
AA Change: V111A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000003521
Gene: ENSMUSG00000003429
AA Change: V111A

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: V87A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209626

Predicted Effect

probably benign
Transcript: ENSMUST00000209815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210073

Predicted Effect

probably benign
Transcript: ENSMUST00000209711

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209967

Predicted Effect

probably benign
Transcript: ENSMUST00000209927

Predicted Effect

probably benign
Transcript: ENSMUST00000209467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198528

Predicted Effect

probably benign
Transcript: ENSMUST00000209212

Predicted Effect

probably benign
Transcript: ENSMUST00000209812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209965

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: V111A

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000210191

Predicted Effect

probably benign
Transcript: ENSMUST00000210967

Predicted Effect

probably benign
Transcript: ENSMUST00000211037

Predicted Effect

probably benign
Transcript: ENSMUST00000210918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211438

Predicted Effect

probably benign
Transcript: ENSMUST00000210931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211583

Meta Mutation Damage Score

0.2760

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

97% (30/31)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,769,910 (GRCm39)	H336Q	probably benign	Het
Abcc2	A	T	19: 43,807,840 (GRCm39)	D827V	probably damaging	Het
Asph	G	T	4: 9,604,620 (GRCm39)	A139E	probably benign	Het
Bag3	T	C	7: 128,125,611 (GRCm39)	M10T	probably benign	Het
Bod1l	T	C	5: 41,952,230 (GRCm39)	D2894G	probably damaging	Het
Cdk12	T	C	11: 98,094,332 (GRCm39)	S47P	probably damaging	Het
Dchs1	C	T	7: 105,413,462 (GRCm39)	V1118I	possibly damaging	Het
Ddi2	A	T	4: 141,411,818 (GRCm39)	C365S	possibly damaging	Het
Eef1g	A	G	19: 8,950,406 (GRCm39)	D264G	probably benign	Het
Fbxw17	T	C	13: 50,585,619 (GRCm39)	L274P	probably benign	Het
Gpc6	A	G	14: 117,673,420 (GRCm39)	T226A	probably benign	Het
Klf12	T	A	14: 100,260,585 (GRCm39)	Y48F	probably damaging	Het
Klhdc4	C	T	8: 122,548,090 (GRCm39)	A67T	probably damaging	Het
Macir	C	T	1: 97,589,551 (GRCm39)		probably null	Het
Madd	C	T	2: 90,968,740 (GRCm39)	E1596K	possibly damaging	Het
Mov10l1	A	G	15: 88,889,930 (GRCm39)	Y533C	probably damaging	Het
Mtif2	G	T	11: 29,490,862 (GRCm39)		probably null	Het
Mtmr6	G	A	14: 60,534,087 (GRCm39)	V442I	possibly damaging	Het
Or4k15b	C	T	14: 50,272,249 (GRCm39)	G204R	probably damaging	Het
Or5ac23	A	T	16: 59,149,061 (GRCm39)	D270E	probably benign	Het
Or9i16	T	C	19: 13,865,167 (GRCm39)	T136A	probably damaging	Het
Pdcd11	A	G	19: 47,087,271 (GRCm39)	N277S	probably benign	Het
Pias2	A	T	18: 77,184,977 (GRCm39)	L12F	probably damaging	Het
Potefam1	G	T	2: 111,024,694 (GRCm39)	Q57K	probably benign	Het
Rnf213	G	T	11: 119,334,106 (GRCm39)	R3105L	probably damaging	Het
Rrs1	C	A	1: 9,616,026 (GRCm39)		probably null	Het
Thsd7a	T	C	6: 12,321,047 (GRCm39)	T1543A	possibly damaging	Het
Vmn2r86	C	A	10: 130,288,444 (GRCm39)	R352S	probably benign	Het
Zfp141	T	C	7: 42,125,938 (GRCm39)	N178S	probably benign	Het
Zfp955a	A	T	17: 33,461,068 (GRCm39)	F355I	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
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

Predicted Primers

PCR Primer
(F):5'- CACATTGAATCGCACAGTCTTGCTC -3'
(R):5'- GCCAGTTGACAAAGCTGATGCC -3'

Sequencing Primer
(F):5'- AACTGTGACAATGTCTCCGATCTG -3'
(R):5'- GTTGACAAAGCTGATGCCATAAATG -3'

Posted On

2013-07-11