Mutagenetix > Incidental Mutation

Incidental Mutation 'R5095:Rps28'

395849

Institutional Source

Beutler Lab

Gene Symbol

Rps28

Ensembl Gene

ENSMUSG00000067288

Gene Name

ribosomal protein S28

Synonyms

MMRRC Submission

042684-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34042010-34043536 bp(-) (GRCm39)

Type of Mutation

splice site (286 bp from exon)

DNA Base Change (assembly)

C to T at 34042177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048249] [ENSMUST00000048560] [ENSMUST00000087342] [ENSMUST00000166693] [ENSMUST00000172649] [ENSMUST00000173019] [ENSMUST00000173132] [ENSMUST00000173879] [ENSMUST00000173789] [ENSMUST00000173844]

AlphaFold

P62858

Predicted Effect

probably benign
Transcript: ENSMUST00000048249

SMART Domains

Protein: ENSMUSP00000039692
Gene: ENSMUSG00000041881

Domain	Start	End	E-Value	Type
Pfam:CI-B14_5a	5	102	2.1e-40	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000048560

SMART Domains

Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
Pfam:KN_motif	32	73	9.1e-24	PFAM
low complexity region	105	125	N/A	INTRINSIC
low complexity region	138	150	N/A	INTRINSIC
coiled coil region	180	229	N/A	INTRINSIC
low complexity region	317	362	N/A	INTRINSIC
low complexity region	369	385	N/A	INTRINSIC
low complexity region	460	478	N/A	INTRINSIC
low complexity region	485	498	N/A	INTRINSIC
ANK	606	636	3.46e-4	SMART
ANK	640	674	2.88e2	SMART
ANK	679	708	5.41e-6	SMART
ANK	712	742	2.73e-2	SMART
Blast:ANK	746	775	4e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000087342

SMART Domains

Protein: ENSMUSP00000110013
Gene: ENSMUSG00000067288

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S28e	1	69	3.6e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166693

SMART Domains

Protein: ENSMUSP00000133642
Gene: ENSMUSG00000067288

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S28e	1	69	3.6e-37	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000172649

SMART Domains

Protein: ENSMUSP00000133760
Gene: ENSMUSG00000042099

Domain	Start	End	E-Value	Type
coiled coil region	8	41	N/A	INTRINSIC
low complexity region	129	174	N/A	INTRINSIC
low complexity region	181	197	N/A	INTRINSIC
low complexity region	272	290	N/A	INTRINSIC
low complexity region	297	310	N/A	INTRINSIC
ANK	418	448	3.46e-4	SMART
ANK	452	486	2.88e2	SMART
ANK	491	520	5.41e-6	SMART
ANK	524	554	2.73e-2	SMART
Blast:ANK	558	587	3e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173019

SMART Domains

Protein: ENSMUSP00000134615
Gene: ENSMUSG00000067288

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S28e	1	69	3.6e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173649

Predicted Effect

probably benign
Transcript: ENSMUST00000173879

SMART Domains

Protein: ENSMUSP00000134240
Gene: ENSMUSG00000067288

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S28e	1	56	2.5e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000173789

SMART Domains

Protein: ENSMUSP00000133625
Gene: ENSMUSG00000042099

Domain	Start	End	E-Value	Type
ANK	22	56	2.88e2	SMART
ANK	61	90	5.41e-6	SMART
ANK	94	124	2.73e-2	SMART
Blast:ANK	128	157	7e-10	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000174608

SMART Domains

Protein: ENSMUSP00000134656
Gene: ENSMUSG00000042099

Domain	Start	End	E-Value	Type
SCOP:d1bd8__	2	47	9e-5	SMART
PDB:4HBD\|A	8	48	1e-6	PDB
Blast:ANK	23	52	3e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173844

SMART Domains

Protein: ENSMUSP00000133357
Gene: ENSMUSG00000067288

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S28e	1	69	3.6e-37	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (59/60)

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 S28E 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. [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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021A07Rik	G	C	10: 21,301,492 (GRCm39)		noncoding transcript	Het
Adgrv1	C	T	13: 81,243,606 (GRCm39)	V6265I	probably benign	Het
Agbl1	G	A	7: 76,369,881 (GRCm39)	G660D	probably damaging	Het
Arap2	A	G	5: 62,811,392 (GRCm39)	Y1140H	probably damaging	Het
Atp6v1c1	T	C	15: 38,679,657 (GRCm39)		probably null	Het
C1rb	A	T	6: 124,557,272 (GRCm39)	R470W	possibly damaging	Het
Caskin2	T	C	11: 115,691,564 (GRCm39)	T1074A	probably benign	Het
Cdh19	T	A	1: 110,882,391 (GRCm39)	T34S	probably benign	Het
Csnk1a1	T	A	18: 61,708,547 (GRCm39)	Y175N	probably damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Flt4	T	A	11: 49,517,986 (GRCm39)	V342D	possibly damaging	Het
Frmd5	A	T	2: 121,379,402 (GRCm39)	C394S	possibly damaging	Het
Gm5414	T	G	15: 101,532,473 (GRCm39)	N550T	probably benign	Het
Hcn3	C	A	3: 89,057,230 (GRCm39)	R456L	probably damaging	Het
Htt	T	C	5: 34,981,739 (GRCm39)	V893A	possibly damaging	Het
Ift46	A	G	9: 44,698,146 (GRCm39)	D203G	probably damaging	Het
Itga10	G	T	3: 96,555,480 (GRCm39)	V145L	probably benign	Het
Kcnh6	A	G	11: 105,908,080 (GRCm39)	D232G	possibly damaging	Het
Mbtd1	T	C	11: 93,820,497 (GRCm39)	S431P	probably damaging	Het
Mmp27	T	A	9: 7,572,159 (GRCm39)	W120R	probably damaging	Het
Mmp27	A	T	9: 7,579,001 (GRCm39)	D418V	probably damaging	Het
Myo5a	A	G	9: 75,059,302 (GRCm39)	D510G	probably damaging	Het
Myo5a	A	T	9: 75,091,671 (GRCm39)	K1179*	probably null	Het
Neto1	T	C	18: 86,416,406 (GRCm39)	S38P	probably benign	Het
Nos3	A	G	5: 24,573,916 (GRCm39)		probably benign	Het
Nuggc	C	T	14: 65,872,539 (GRCm39)	R512*	probably null	Het
Oas1e	T	A	5: 120,932,329 (GRCm39)	K105*	probably null	Het
Omd	T	A	13: 49,743,174 (GRCm39)	S75T	possibly damaging	Het
Or10a3m	T	C	7: 108,313,019 (GRCm39)	F141S	probably damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Pbrm1	A	G	14: 30,754,487 (GRCm39)	N190S	probably benign	Het
Picalm	T	C	7: 89,819,841 (GRCm39)	F85L	probably damaging	Het
Polg	A	G	7: 79,110,048 (GRCm39)	V360A	possibly damaging	Het
Prex1	T	C	2: 166,423,841 (GRCm39)	D1017G	probably damaging	Het
Prss56	G	C	1: 87,115,833 (GRCm39)	R569P	probably damaging	Het
Rab6b	G	A	9: 103,017,583 (GRCm39)	G25R	probably damaging	Het
Rdh10	A	G	1: 16,201,609 (GRCm39)	T332A	probably benign	Het
Rheb	A	T	5: 25,012,639 (GRCm39)	M115K	probably benign	Het
Rnf149	A	T	1: 39,594,737 (GRCm39)	D321E	probably benign	Het
Slc6a20b	A	G	9: 123,424,119 (GRCm39)	V616A	probably benign	Het
Smarcc2	A	G	10: 128,305,169 (GRCm39)	K300R	probably damaging	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Spata31h1	G	T	10: 82,119,501 (GRCm39)	A4503E	probably damaging	Het
Srp68	C	T	11: 116,139,573 (GRCm39)	V459M	probably damaging	Het
Stxbp4	C	T	11: 90,439,801 (GRCm39)	V346I	probably benign	Het
Syne2	A	G	12: 75,999,600 (GRCm39)	D2331G	probably damaging	Het
Ttn	A	T	2: 76,564,536 (GRCm39)	Y28534N	probably damaging	Het
Usp44	A	T	10: 93,682,707 (GRCm39)	I386F	possibly damaging	Het
Vmn2r15	T	C	5: 109,436,317 (GRCm39)		probably null	Het
Vmn2r72	T	A	7: 85,387,061 (GRCm39)	L834F	probably damaging	Het
Vps13b	T	A	15: 35,923,348 (GRCm39)	I3741K	probably damaging	Het
Zdbf2	A	G	1: 63,348,232 (GRCm39)	T2204A	possibly damaging	Het
Zfp607b	T	A	7: 27,393,061 (GRCm39)		probably benign	Het

Predicted Primers

PCR Primer
(F):5'- AGAGTGCATGGTCACTGGAG -3'
(R):5'- TTCCACCCCACTAGTAAGTAGC -3'

Sequencing Primer
(F):5'- TTTATAAAGCCAAGACGCTGCTGG -3'
(R):5'- AGCAGCATTTAACTCTTGTATTGGGC -3'

Posted On

2016-06-21