Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01557:Mrps9'

90743

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrps9

Ensembl Gene

ENSMUSG00000060679

Gene Name

mitochondrial ribosomal protein S9

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.933) question?

Stock #

IGL01557

Quality Score

Status

Chromosome

Chromosomal Location

42851233-42905683 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42851350 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 20 (V20A)

Ref Sequence

ENSEMBL: ENSMUSP00000056855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057208]

Predicted Effect

probably benign
Transcript: ENSMUST00000057208
AA Change: V20A

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

SMART Domains

Protein: ENSMUSP00000056855
Gene: ENSMUSG00000060679
AA Change: V20A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	194	207	N/A	INTRINSIC
Pfam:Ribosomal_S9	268	390	7.3e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188174

Coding Region Coverage

Validation Efficiency

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 58,968,720		probably null	Het
Arl9	T	G	5: 77,004,101		probably null	Het
Ces3a	C	A	8: 105,057,751	T439K	probably damaging	Het
Cyp3a25	A	G	5: 145,984,901	W408R	probably damaging	Het
Defb22	T	G	2: 152,486,079	D62A	possibly damaging	Het
Dnah17	C	T	11: 118,073,686	R2422Q	probably damaging	Het
Ehd3	A	G	17: 73,805,280	K13R	probably benign	Het
Fndc1	T	C	17: 7,756,389	E1406G	probably damaging	Het
Gak	A	C	5: 108,584,337	Y762D	probably damaging	Het
Igf2r	A	G	17: 12,704,635	S1187P	possibly damaging	Het
Ighmbp2	T	C	19: 3,281,472	E68G	probably benign	Het
Itpr2	T	C	6: 146,158,976	T2448A	probably damaging	Het
Lrrk2	T	G	15: 91,699,989	C317W	probably damaging	Het
Morc1	T	A	16: 48,498,766	S278T	probably damaging	Het
Nutm1	A	T	2: 112,251,818	N304K	probably benign	Het
Olfr761	G	A	17: 37,952,851	P58S	probably damaging	Het
Pcdhb9	T	C	18: 37,403,047	V698A	probably damaging	Het
Pitrm1	C	A	13: 6,552,684	D70E	probably benign	Het
Pkhd1	T	C	1: 20,116,979	T3702A	possibly damaging	Het
Ppm1h	A	T	10: 122,782,181		probably null	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Ptpn5	T	C	7: 47,081,888	Y411C	probably damaging	Het
Spon2	G	A	5: 33,216,703	A112V	probably damaging	Het
Zfp648	T	A	1: 154,204,680	V195D	probably benign	Het

Other mutations in Mrps9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Mrps9	APN	1	42905459	missense	probably damaging	1.00
IGL01134:Mrps9	APN	1	42903397	missense	probably damaging	0.97
IGL02541:Mrps9	APN	1	42862654	splice site	probably null
PIT4402001:Mrps9	UTSW	1	42896098	missense	probably benign	0.10
R0598:Mrps9	UTSW	1	42905417	missense	probably damaging	1.00
R1718:Mrps9	UTSW	1	42903399	missense	probably damaging	1.00
R4195:Mrps9	UTSW	1	42901094	intron	probably benign
R4196:Mrps9	UTSW	1	42901094	intron	probably benign
R4695:Mrps9	UTSW	1	42862515	missense	possibly damaging	0.59
R4840:Mrps9	UTSW	1	42898415	intron	probably benign
R5033:Mrps9	UTSW	1	42895331	intron	probably null
R5489:Mrps9	UTSW	1	42898433	splice site	probably benign
R5876:Mrps9	UTSW	1	42895378	missense	probably damaging	0.99
R6891:Mrps9	UTSW	1	42905413	missense	probably damaging	1.00
R7015:Mrps9	UTSW	1	42898546	missense	probably benign	0.04

Posted On

2013-12-09