Mutagenetix > Incidental Mutation

Incidental Mutation 'R5008:Rps18'

390319

Institutional Source

Beutler Lab

Gene Symbol

Rps18

Ensembl Gene

ENSMUSG00000008668

Gene Name

ribosomal protein S18

Synonyms

H-2Ke3, H2-Ke3

MMRRC Submission

042599-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5008 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34170972-34174639 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 34171258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008812] [ENSMUST00000025170] [ENSMUST00000025178] [ENSMUST00000087543] [ENSMUST00000173196] [ENSMUST00000174609]

AlphaFold

P62270

Predicted Effect

probably damaging
Transcript: ENSMUST00000008812
AA Change: L107Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000008812
Gene: ENSMUSG00000008668
AA Change: L107Q

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S13	14	142	2.2e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025170

SMART Domains

Protein: ENSMUSP00000025170
Gene: ENSMUSG00000024312

Domain	Start	End	E-Value	Type
coiled coil region	126	155	N/A	INTRINSIC
low complexity region	204	217	N/A	INTRINSIC
WD40	225	262	1.02e2	SMART
WD40	267	302	3.3e1	SMART
Blast:WD40	305	344	8e-19	BLAST
WD40	347	386	9.52e-6	SMART
Blast:WD40	392	426	3e-14	BLAST
BING4CT	439	517	8.85e-53	SMART
low complexity region	542	556	N/A	INTRINSIC
low complexity region	586	593	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000025178

SMART Domains

Protein: ENSMUSP00000025178
Gene: ENSMUSG00000024319

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
low complexity region	24	45	N/A	INTRINSIC
Pfam:Sec3_C	79	244	4.6e-13	PFAM
Pfam:Vps52	94	601	5.1e-233	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087543

SMART Domains

Protein: ENSMUSP00000084823
Gene: ENSMUSG00000067370

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
Pfam:Galactosyl_T	85	302	1.3e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172799

Predicted Effect

probably null
Transcript: ENSMUST00000173196

SMART Domains

Protein: ENSMUSP00000133926
Gene: ENSMUSG00000024319

Domain	Start	End	E-Value	Type
low complexity region	18	39	N/A	INTRINSIC
Pfam:Vps52	88	120	2.7e-6	PFAM
Pfam:Vps52	116	527	3e-181	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174620

Predicted Effect

probably benign
Transcript: ENSMUST00000174609
AA Change: C101S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138296
Gene: ENSMUSG00000008668
AA Change: C101S

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S13	14	107	2.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174662

Meta Mutation Damage Score

0.8388

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (73/75)

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 40S subunit. The protein belongs to the S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,278,192 (GRCm39)	T242R	probably damaging	Het
2310057N15Rik	A	G	16: 88,570,663 (GRCm39)	Y126H	probably damaging	Het
Catsperg1	A	T	7: 28,894,859 (GRCm39)	Y579*	probably null	Het
Chchd5	A	T	2: 128,972,319 (GRCm39)		probably null	Het
Chd1l	T	C	3: 97,491,224 (GRCm39)	N423D	probably damaging	Het
Cntnap1	G	A	11: 101,079,567 (GRCm39)	W1268*	probably null	Het
Col2a1	G	A	15: 97,877,550 (GRCm39)	A1011V	probably benign	Het
Cst11	A	G	2: 148,612,325 (GRCm39)	I104T	probably benign	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dnaaf4	T	C	9: 72,879,600 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 118,001,403 (GRCm39)	F847L	probably benign	Het
Dspp	A	T	5: 104,323,439 (GRCm39)	H194L	possibly damaging	Het
Dync2i2	C	A	2: 29,922,781 (GRCm39)	R322L	probably benign	Het
Frmd5	C	A	2: 121,379,341 (GRCm39)	R414L	probably damaging	Het
Galnt3	C	A	2: 65,915,585 (GRCm39)	R592L	probably benign	Het
Gm38706	T	A	6: 130,461,580 (GRCm39)		noncoding transcript	Het
Gm38706	T	A	6: 130,461,983 (GRCm39)		noncoding transcript	Het
Hivep3	A	G	4: 119,956,114 (GRCm39)	K1477E	probably benign	Het
Igsf3	C	T	3: 101,358,233 (GRCm39)	T708M	probably damaging	Het
Ikzf4	T	G	10: 128,477,119 (GRCm39)	E64A	probably benign	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Krt87	T	A	15: 101,389,105 (GRCm39)	I76F	probably damaging	Het
Lat2	A	G	5: 134,631,991 (GRCm39)	V152A	probably benign	Het
Lrp12	C	T	15: 39,741,852 (GRCm39)	D288N	probably damaging	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Myh4	T	A	11: 67,144,358 (GRCm39)	S1243T	probably benign	Het
Myo3b	T	A	2: 70,088,412 (GRCm39)	F892I	probably damaging	Het
Nckap5l	T	C	15: 99,323,731 (GRCm39)	N924S	possibly damaging	Het
Npnt	C	T	3: 132,612,218 (GRCm39)	C218Y	probably damaging	Het
Or2a20	T	A	6: 43,193,991 (GRCm39)	I48N	probably damaging	Het
Or2d2b	A	T	7: 106,705,288 (GRCm39)	M260K	probably damaging	Het
Or7a42	T	A	10: 78,791,905 (GRCm39)	F289I	probably damaging	Het
Pfkm	G	A	15: 98,020,570 (GRCm39)	C233Y	probably benign	Het
Pigq	A	G	17: 26,153,177 (GRCm39)	V338A	probably benign	Het
Pld4	A	T	12: 112,734,484 (GRCm39)	N415I	possibly damaging	Het
Pmm1	A	T	15: 81,842,095 (GRCm39)		probably null	Het
Polg	G	T	7: 79,109,822 (GRCm39)	P394T	probably damaging	Het
Polq	A	T	16: 36,882,749 (GRCm39)	I1359L	probably benign	Het
Pramel30	A	G	4: 144,057,836 (GRCm39)	S148G	probably benign	Het
Pros1	A	G	16: 62,748,548 (GRCm39)	N674D	possibly damaging	Het
Psme4	T	A	11: 30,806,896 (GRCm39)		probably benign	Het
Rasa3	A	T	8: 13,634,959 (GRCm39)	C453*	probably null	Het
Repin1	T	C	6: 48,573,542 (GRCm39)	V101A	probably damaging	Het
Rnf186	A	T	4: 138,694,540 (GRCm39)	M27L	probably benign	Het
Rpa1	A	G	11: 75,204,125 (GRCm39)		probably null	Het
Rph3a	G	T	5: 121,083,454 (GRCm39)	N605K	probably damaging	Het
Scgn	A	G	13: 24,174,958 (GRCm39)	I20T	probably damaging	Het
Skint6	A	T	4: 112,848,452 (GRCm39)	V652E	possibly damaging	Het
Slc23a2	T	C	2: 131,943,414 (GRCm39)	H29R	probably damaging	Het
Slc34a3	C	T	2: 25,120,854 (GRCm39)	V383I	possibly damaging	Het
Slc5a1	A	G	5: 33,309,917 (GRCm39)	M382V	possibly damaging	Het
Slc5a3	T	A	16: 91,874,169 (GRCm39)	S75R	probably damaging	Het
Stat5b	G	C	11: 100,693,309 (GRCm39)	H111D	probably benign	Het
Tanc2	G	A	11: 105,515,886 (GRCm39)	M1I	probably null	Het
Tbcel	C	T	9: 42,327,419 (GRCm39)	G328E	probably damaging	Het
Tecta	C	A	9: 42,284,358 (GRCm39)	R909L	possibly damaging	Het
Tnip1	A	T	11: 54,828,810 (GRCm39)	M119K	probably benign	Het
Zbbx	A	C	3: 75,058,755 (GRCm39)	S51A	possibly damaging	Het
Zc3h12c	T	C	9: 52,028,000 (GRCm39)	N454S	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het

Other mutations in Rps18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02216:Rps18	APN	17	34,171,015 (GRCm39)	utr 3 prime	probably benign
R1658:Rps18	UTSW	17	34,171,392 (GRCm39)	missense	probably benign	0.03
R3622:Rps18	UTSW	17	34,171,247 (GRCm39)	splice site	probably null
R6220:Rps18	UTSW	17	34,174,110 (GRCm39)	missense	probably damaging	0.97
R8110:Rps18	UTSW	17	34,174,110 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- TGGATACACCCACAGTTCGG -3'
(R):5'- AGATCCCAGACTGGTTCCTGAAC -3'

Sequencing Primer
(F):5'- TGACCGCGGACACGAAG -3'
(R):5'- ACTGGTTCCTGAACAGACAG -3'

Posted On

2016-06-06