Mutagenetix > Incidental Mutation

Incidental Mutation 'R6459:Mrps28'

517833

Institutional Source

Beutler Lab

Gene Symbol

Mrps28

Ensembl Gene

ENSMUSG00000040269

Gene Name

mitochondrial ribosomal protein S28

Synonyms

1500012D08Rik

MMRRC Submission

044594-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

R6459 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8867206-8988917 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 8965040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042148]

AlphaFold

Q9CY16

Predicted Effect

probably null
Transcript: ENSMUST00000042148

SMART Domains

Protein: ENSMUSP00000038305
Gene: ENSMUSG00000040269

Domain	Start	End	E-Value	Type
S1	94	158	1.69e0	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has been called mitochondrial ribosomal protein S35 in the literature. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	C	A	11: 76,315,815 (GRCm39)	R583L	probably damaging	Het
Acss1	A	G	2: 150,509,840 (GRCm39)	I93T	probably damaging	Het
Ank3	C	T	10: 69,827,577 (GRCm39)		probably benign	Het
Aoah	A	G	13: 21,184,112 (GRCm39)	Y392C	probably damaging	Het
Atl3	A	T	19: 7,498,163 (GRCm39)	E186D	probably benign	Het
Atp4a	A	G	7: 30,411,887 (GRCm39)	K41E	probably benign	Het
Atp9a	G	A	2: 168,509,933 (GRCm39)	P500L	probably damaging	Het
Ccdc88b	A	T	19: 6,832,246 (GRCm39)	V363D	possibly damaging	Het
Cftr	T	C	6: 18,258,235 (GRCm39)	V532A	probably damaging	Het
Cldn13	T	C	5: 134,943,769 (GRCm39)	T139A	possibly damaging	Het
Cnksr3	T	C	10: 7,076,820 (GRCm39)	Y124C	probably benign	Het
Cyb5r2	T	C	7: 107,352,462 (GRCm39)	K161E	possibly damaging	Het
Epop	T	C	11: 97,519,333 (GRCm39)	S259G	possibly damaging	Het
Fhl2	G	A	1: 43,162,813 (GRCm39)	T234I	possibly damaging	Het
Fnip2	T	C	3: 79,388,941 (GRCm39)	T567A	possibly damaging	Het
Frmd4b	A	G	6: 97,464,601 (GRCm39)	C39R	probably damaging	Het
Grhl3	T	C	4: 135,284,744 (GRCm39)	N116S	possibly damaging	Het
Igkv14-111	A	T	6: 68,233,725 (GRCm39)	R75S	probably benign	Het
Il16	A	T	7: 83,371,529 (GRCm39)	D92E	probably damaging	Het
Il16	C	A	7: 83,371,536 (GRCm39)	G90V	probably damaging	Het
Ipo11	T	C	13: 107,002,277 (GRCm39)		probably null	Het
Kng2	A	G	16: 22,830,865 (GRCm39)	I148T	probably damaging	Het
Lrrc41	T	C	4: 115,945,977 (GRCm39)	S231P	possibly damaging	Het
Maneal	C	T	4: 124,750,635 (GRCm39)	V374I	possibly damaging	Het
Mgat4c	T	A	10: 102,220,988 (GRCm39)	L90Q	probably damaging	Het
Ncapd3	A	G	9: 26,963,051 (GRCm39)	D452G	probably benign	Het
Nefh	T	C	11: 4,889,551 (GRCm39)	T1023A	unknown	Het
Nipa1	A	G	7: 55,629,354 (GRCm39)	V253A	probably benign	Het
Or5ac17	C	T	16: 59,036,383 (GRCm39)	V198M	probably benign	Het
Or5b97	G	T	19: 12,878,369 (GRCm39)	F258L	possibly damaging	Het
Or5m11	G	T	2: 85,781,862 (GRCm39)	G152C	probably damaging	Het
Or8d23	A	G	9: 38,841,961 (GRCm39)	S165G	probably benign	Het
Or8k41	T	A	2: 86,313,573 (GRCm39)	H171L	probably benign	Het
Pak1	A	G	7: 97,557,088 (GRCm39)	D495G	probably benign	Het
Pcm1	G	A	8: 41,714,073 (GRCm39)	R213H	probably damaging	Het
Prg4	T	C	1: 150,330,052 (GRCm39)		probably benign	Het
Proser1	C	T	3: 53,385,750 (GRCm39)	T544M	possibly damaging	Het
Rftn1	T	C	17: 50,354,334 (GRCm39)	M343V	probably benign	Het
Ryr1	T	C	7: 28,715,079 (GRCm39)	I4656V	probably benign	Het
Scg2	T	A	1: 79,414,007 (GRCm39)	N239Y	probably damaging	Het
Sec16a	C	A	2: 26,313,512 (GRCm39)	M1949I	probably benign	Het
Sipa1l2	A	G	8: 126,171,223 (GRCm39)		probably null	Het
Slc10a2	A	C	8: 5,148,581 (GRCm39)		probably null	Het
Slc25a16	C	T	10: 62,773,256 (GRCm39)	Q164*	probably null	Het
Specc1l	T	C	10: 75,082,001 (GRCm39)	Y483H	probably damaging	Het
Ston1	T	C	17: 88,943,896 (GRCm39)	V434A	probably benign	Het
Tarbp2	A	G	15: 102,426,914 (GRCm39)		probably benign	Het
Trappc8	C	T	18: 20,969,925 (GRCm39)	V1022M	probably benign	Het
Tsen54	T	C	11: 115,712,506 (GRCm39)	V269A	probably damaging	Het
Vps13a	A	T	19: 16,641,382 (GRCm39)	M78K	possibly damaging	Het
Vwa5b2	A	G	16: 20,413,429 (GRCm39)	T215A	probably damaging	Het
Zc3h7a	A	G	16: 10,971,025 (GRCm39)	Y335H	probably damaging	Het
Zfp994	T	A	17: 22,419,527 (GRCm39)	Q474L	possibly damaging	Het

Other mutations in Mrps28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01604:Mrps28	APN	3	8,965,130 (GRCm39)	missense	probably damaging	1.00
IGL01895:Mrps28	APN	3	8,965,119 (GRCm39)	missense	probably damaging	1.00
R1423:Mrps28	UTSW	3	8,965,184 (GRCm39)	missense	probably benign	0.00
R1462:Mrps28	UTSW	3	8,965,184 (GRCm39)	missense	possibly damaging	0.50
R1462:Mrps28	UTSW	3	8,965,184 (GRCm39)	missense	possibly damaging	0.50
R3034:Mrps28	UTSW	3	8,988,675 (GRCm39)	missense	probably benign	0.03
R4917:Mrps28	UTSW	3	8,947,614 (GRCm39)	intron	probably benign
R4918:Mrps28	UTSW	3	8,947,614 (GRCm39)	intron	probably benign
R5119:Mrps28	UTSW	3	8,988,756 (GRCm39)	missense	possibly damaging	0.77
R6012:Mrps28	UTSW	3	8,965,044 (GRCm39)	critical splice donor site	probably null
R6029:Mrps28	UTSW	3	8,988,805 (GRCm39)	missense	possibly damaging	0.56
R6229:Mrps28	UTSW	3	8,965,097 (GRCm39)	missense	probably damaging	1.00
R7845:Mrps28	UTSW	3	8,988,775 (GRCm39)	missense	possibly damaging	0.48
R9075:Mrps28	UTSW	3	8,867,312 (GRCm39)	missense	probably benign	0.01
R9079:Mrps28	UTSW	3	8,867,308 (GRCm39)	makesense	probably null
R9645:Mrps28	UTSW	3	8,867,389 (GRCm39)	missense	probably damaging	1.00
Z1177:Mrps28	UTSW	3	8,988,806 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAACACTGAATGTCATTTCTTTCGG -3'
(R):5'- TCTCCAAAACCTGTGGAGTCC -3'

Sequencing Primer
(F):5'- TTATCAGGCTGGCCTCGAAATCAG -3'
(R):5'- AAAACCTGTGGAGTCCTTCGC -3'

Posted On

2018-05-21